Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ADH4	127	broad.mit.edu	37	4	100062705	100062705	+	Silent	SNP	G	G	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr4:100062705G>T	ENST00000508393.1	-	4	471	c.306C>A	c.(304-306)acC>acA	p.T102T	ADH4_ENST00000423445.1_Silent_p.T102T|ADH4_ENST00000265512.7_Silent_p.T83T|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Silent_p.T102T			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	83					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	GTTTGACGTTGGTCACTCCTG	0.398000													21	42					0.00395357	0.00412362	1	1	0
NOTCH3	4854	broad.mit.edu	37	19	15302992	15302992	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr19:15302992C>T	ENST00000263388.2	-	4	533	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	153	EGF-like 3.		Missing (in CADASIL).|R -> C (in CADASIL).		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCGGCAGCTGCGGCCCTGGTA	0.687000													12	23					0	0	1	0	0
MIR379	494328	broad.mit.edu	37	14	101488430	101488430	+	RNA	SNP	G	G	A	rs115827677	by1000genomes	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:101488430G>A	ENST00000362218.3	+	0	65					NR_029871.1																						GAACGTAGGCGTTATGATTTC	0.517000													4	36					0	0	1	0	0
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	PH.		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).		activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612000	E17K(KU1919_URINARY_TRACT)	1	Mis		"""breast, colorectal, ovarian, NSCLC"""								8	19					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79697996	79697996	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:79697996C>T	ENST00000275034.4	-	21	2557	c.2390G>A	c.(2389-2391)cGt>cAt	p.R797H		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	797					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	p.R797H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AGATCTTGTACGATAATTGTG	0.338000													5	101					0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47110036	47110036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr18:47110036G>A	ENST00000261292.4	+	8	1546	c.1268G>A	c.(1267-1269)tGg>tAg	p.W423*	LIPG_ENST00000427224.2_Nonsense_Mutation_p.W349*	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	423	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TCTCAGTCTTGGTACAACCTG	0.582000													24	73					0	0	1	0	0
MLF2	8079	broad.mit.edu	37	12	6859160	6859160	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:6859160C>T	ENST00000203630.5	-	7	1057	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	MLF2_ENST00000539187.1_Missense_Mutation_p.R138Q|MLF2_ENST00000542154.1_Missense_Mutation_p.R138Q|MLF2_ENST00000435120.1_Missense_Mutation_p.R138Q			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	138					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						AACAGTCCTCCGTGTCTCCCG	0.582000													15	64					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702649	27702649	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr10:27702649C>T	ENST00000438700.3	-	1	648	c.531G>A	c.(529-531)ccG>ccA	p.P177P		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	177					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCGCCTTGGCCGGGCTCCCCA	0.637000													44	150					0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43804269	43804269	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:43804269G>A	ENST00000372470.3	+	3	311	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	MPL_ENST00000413998.2_Missense_Mutation_p.R90Q	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	90					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTGGAACCCGATACGTGTGC	0.572000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						23	84					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112																											AGCAATCTCCTCACTCAGCTG	0.672000													8	34					0	0	1	0	0
UCHL3	7347	broad.mit.edu	37	13	76134943	76134943	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr13:76134943A>G	ENST00000377595.3	+	3	139	c.109A>G	c.(109-111)Atg>Gtg	p.M37V	RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.3	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	37					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		TGTATATGGAATGGATCCTGA	0.338000													25	75					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16957319	16957319	+	RNA	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:16957319C>T	ENST00000412962.1	-	0	294																											CCACCCCCACCTGGAGGGCGC	0.667000													3	5					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125204332	125204332	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:125204332G>T	ENST00000431078.1	+	6	1100	c.736G>T	c.(736-738)Gac>Tac	p.D246Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	246	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTCACAGGTGACAGCAAAGC	0.567000													15	53					1.67942e-08	1.81004e-08	1	1	0
OR4N4	283694	broad.mit.edu	37	15	22383350	22383350	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr15:22383350A>G	ENST00000328795.4	+	1	969	c.878A>G	c.(877-879)gAa>gGa	p.E293G	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CGCAACCAGGAAGTGAAAACT	0.408000													16	140					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	63					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854765	53854765	+	Silent	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr19:53854765C>A	ENST00000458035.1	+	4	954	c.837C>A	c.(835-837)acC>acA	p.T279T	ZNF845_ENST00000595091.1_Silent_p.T279T	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTGGCAAGACCTTCAGTCAGG	0.423000													18	58					2.48551e-13	2.7712e-13	1	1	0
DOK3	79930	broad.mit.edu	37	5	176935517	176935517	+	Silent	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:176935517C>A	ENST00000312943.6	-	3	253	c.93G>T	c.(91-93)ctG>ctT	p.L31L	DOK3_ENST00000501403.2_Silent_p.L31L|DOK3_ENST00000357198.4_Silent_p.L87L|DOK3_ENST00000377112.4_Intron	NM_001144875.1	NP_001138347.1	Q7L591	DOK3_HUMAN	docking protein 3	87						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)			CTGCATACAGCAGAGCCCACA	0.677000													3	11					0.150653	0.150653	1	1	0
KLF10	7071	broad.mit.edu	37	8	103664557	103664557	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr8:103664557C>T	ENST00000395884.3	-	2	974	c.72G>A	c.(70-72)gaG>gaA	p.E24E	KLF10_ENST00000285407.6_Silent_p.E35E	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	35					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			AATCACTTTTCTCTGCAGTTT	0.358000													53	130					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43777409	43777409	+	Silent	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:43777409G>A	ENST00000372476.3	+	10	1480	c.1401G>A	c.(1399-1401)ccG>ccA	p.P467P	TIE1_ENST00000433781.2_Silent_p.P112P	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	467	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGTCTCCCCGCTGGTCTCGT	0.647000													23	60					0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31112526	31112526	+	Missense_Mutation	SNP	C	C	T	rs150749093	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:31112526C>T	ENST00000396268.3	-	15	2293	c.2105G>A	c.(2104-2106)cGg>cAg	p.R702Q	CCHCR1_ENST00000451521.2_Missense_Mutation_p.R666Q|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R560Q|CCHCR1_ENST00000376266.5_Missense_Mutation_p.R613Q	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	613					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GAGTTGCTCCCGCAGCCGAGT	0.597000													53	106					0	0	1	0	0
PAQR6	79957	broad.mit.edu	37	1	156214599	156214599	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:156214599G>T	ENST00000335852.1	-	6	1010	c.395C>A	c.(394-396)gCc>gAc	p.A132D	PAQR6_ENST00000292291.5_Missense_Mutation_p.A238D|PAQR6_ENST00000360733.2_Missense_Mutation_p.A132D|PAQR6_ENST00000540423.1_Missense_Mutation_p.A235D|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000368270.1_Missense_Mutation_p.A214D|PAQR6_ENST00000356983.2_Missense_Mutation_p.A132D	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	238						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					CAGGTGGGAGGCGAAGAGGAA	0.672000													15	42					0.00400662	0.0041345	1	1	0
KRT83	3889	broad.mit.edu	37	12	52710276	52710276	+	Silent	SNP	G	G	A	rs143467763	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:52710276G>A	ENST00000293670.3	-	6	1079	c.1017C>T	c.(1015-1017)gcC>gcT	p.A339A		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	339	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTCCACCTCGGCTGTCAGCC	0.597000													33	50					0	0	1	0	0
CBX8	57332	broad.mit.edu	37	17	77769025	77769025	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:77769025C>T	ENST00000269385.4	-	5	696	c.579G>A	c.(577-579)ggG>ggA	p.G193G		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	193					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCGAGCTGTCCCCCGGTGAGC	0.662000													3	19					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27015218	27015218	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:27015218C>T	ENST00000314616.6	+	24	3399	c.3116C>T	c.(3115-3117)aCg>aTg	p.T1039M	SUPT6H_ENST00000347486.4_Missense_Mutation_p.T1039M	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1039					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AAGATCGACACGGCCTCCCTG	0.577000													54	168					0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118263536	118263536	+	Silent	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:118263536G>A	ENST00000252108.3	+	19	3131	c.3000G>A	c.(2998-3000)ctG>ctA	p.L1000L	UBE4A_ENST00000431736.2_Silent_p.L1007L|UBE4A_ENST00000545354.1_Silent_p.L472L	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	1000	U-box.				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)		TGAGCACACTGATGTGTGACC	0.483000													56	86					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4944867	4944867	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:4944867C>A	ENST00000321961.2	-	1	770	c.703G>T	c.(703-705)Gag>Tag	p.E235*	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGAGTCGCTCCTGGTGGGAG	0.552000													26	68					3.69857e-22	4.22072e-22	1	1	0
ZCCHC8	55596	broad.mit.edu	37	12	122975114	122975114	+	Splice_Site	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:122975114C>T	ENST00000336229.4	-	4	448	c.317_splice	c.e4-1	p.K106_splice	ZCCHC8_ENST00000543897.1_5'UTR|ZCCHC8_ENST00000536306.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	106						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GATGATATTGCCTGTGTAAGA	0.328000													5	10					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T	rs143671051	by1000genomes	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:142168890C>T	ENST00000454561.2	-	0	155																											GGGCTTGGTCCTCCTGGGGAA	0.592000													4	34					0	0	1	0	0
IFNGR1	3459	broad.mit.edu	37	6	137527279	137527279	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:137527279G>A	ENST00000367739.4	-	3	488	c.367C>T	c.(367-369)Cga>Tga	p.R123*	IFNGR1_ENST00000543628.1_Nonsense_Mutation_p.R95*|IFNGR1_ENST00000367735.2_Nonsense_Mutation_p.R113*	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	123					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TCACCATCTCGGCATACAGCA	0.348000													7	118					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804538	27804538	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:27804538G>A	ENST00000408964.2	+	1	5150	c.5099G>A	c.(5098-5100)aGg>aAg	p.R1700K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1700	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									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)					CCCTCTCAGAGGAGCCATCGT	0.587000													8	237					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12334328	12334328	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:12334328C>T	ENST00000261349.4	-	6	1098	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	LRP6_ENST00000543091.1_Missense_Mutation_p.R341H	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	341	Beta-propeller 2.				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 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|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.R341H(1)		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)				CAAAGAAATGCGTCTCAAGTC	0.403000													34	81					0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1704289	1704289	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:1704289C>T	ENST00000305513.7	-	5	566	c.399G>A	c.(397-399)caG>caA	p.Q133Q		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	133							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						ACCCATGTGTCTGTGCTCTGT	0.443000													53	155					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95155227	95155227	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr4:95155227C>T	ENST00000354268.4	+	4	564	c.491C>T	c.(490-492)aCt>aTt	p.T164I	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.T164I			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	164	CUE 1.				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)		aaacttcagactttgaaggaa	0.373000													19	29					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21973915	21973915	+	Silent	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr8:21973915G>A	ENST00000381418.4	-	18	4885	c.3405C>T	c.(3403-3405)agC>agT	p.S1135S	HR_ENST00000312841.8_Silent_p.S1080S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1135	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCTGAGTGACGCTGACTGTGC	0.627000													9	26					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148012531	148012531	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:148012531C>T	ENST00000369219.1	-	12	1444	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5.					cytoplasm		p.K476K(2)|p.K476N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGCCAACATGCTTTTCCTCCA	0.443000													3	14					0	0	1	0	0
SEPHS2	22928	broad.mit.edu	37	16	30455654	30455654	+	Silent	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr16:30455654G>A	ENST00000478753.2	-	1	1848	c.1395C>T	c.(1393-1395)atC>atT	p.I465I	SEPHS2_ENST00000542752.1_3'UTR			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	0					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AACCATCCGTGATTGTGGACA	0.473000													17	30					0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31997106	31997106	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:31997106G>A	ENST00000435363.2	+	28	3751	c.3667G>A	c.(3667-3669)Gag>Aag	p.E1223K	C4B_ENST00000425700.2_Missense_Mutation_p.E1223K	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1223					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										AATGGCCCAGGAGACTGGAGG	0.642000													9	55					0	0	1	0	0
LPCAT2	54947	broad.mit.edu	37	16	55579722	55579722	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr16:55579722A>G	ENST00000262134.5	+	9	1112	c.928A>G	c.(928-930)Atg>Gtg	p.M310V		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	310					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CCGGAATTTAATGGCAGAGTA	0.299000													7	77					0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13410506	13410506	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:13410506C>A	ENST00000278174.5	-	9	1545	c.1300G>T	c.(1300-1302)Gac>Tac	p.D434Y	BTBD10_ENST00000530907.1_Missense_Mutation_p.D442Y|BTBD10_ENST00000528120.1_Missense_Mutation_p.D386Y	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	434						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TGGGGAATGTCTGCTGCAGCT	0.488000													48	77					2.6635e-43	3.07571e-43	1	1	0
ASMT	438	broad.mit.edu	37	X	1755398	1755398	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chrX:1755398G>C	ENST00000381241.3	+	8	1054	c.855G>C	c.(853-855)tgG>tgC	p.W285C	ASMT_ENST00000381229.4_Missense_Mutation_p.W257C|ASMT_ENST00000381233.3_Missense_Mutation_p.W210C	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	257					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		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)				TCCATGACTGGGCAGACGGAA	0.567000													56	143					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65267841	65267841	+	RNA	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:65267841G>A	ENST00000534336.1	+	0	2609					NR_002819.2																						TAAATCCTGAGGACTAGCATT	0.388000													4	52					0	0	1	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857876	101857876	+	Silent	SNP	T	T	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chrX:101857876T>G	ENST00000604957.1	+	1	3429	c.807T>G	c.(805-807)ccT>ccG	p.P269P	RP4-769N13.7_ENST00000602441.1_RNA|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000536530.1_Silent_p.P269P|ARMCX5_ENST00000372742.1_Silent_p.P269P|ARMCX5_ENST00000541409.1_Silent_p.P269P|ARMCX5_ENST00000537008.1_Silent_p.P269P|ARMCX5_ENST00000246174.2_Silent_p.P269P	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	269							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AGATCCCACCTTATCATGGGC	0.488000													45	42					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	878568	878568	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:878568C>T	ENST00000323510.4	-	8	884	c.885G>A	c.(883-885)tcG>tcA	p.S295S	BRD9_ENST00000467963.1_Silent_p.S391S|BRD9_ENST00000388890.4_Silent_p.S275S|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000483173.1_Silent_p.S338S			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	391							nucleic acid binding	p.S295S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TATTCTGCATCGAAAGCGCAG	0.567000													9	124					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11778325	11778325	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:11778325C>T	ENST00000262442.3	+	53	10370	c.10302C>T	c.(10300-10302)gaC>gaT	p.D3434D	DNAH9_ENST00000454412.2_Silent_p.D3434D|RP11-628O18.1_ENST00000579621.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3434	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGATGCTGACGTGGCTGCCT	0.592000													35	83					0	0	1	0	0
SUV39H2	79723	broad.mit.edu	37	10	14923625	14923625	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr10:14923625G>A	ENST00000378325.3	+	2	184	c.158G>A	c.(157-159)tGt>tAt	p.C53Y	SUV39H2_ENST00000313519.5_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.C53Y	NM_001193426.1|NM_001193427.1	NP_001180355.1|NP_001180356.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	53	Chromo.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						GAATACTTGTGTGACTACAAG	0.338000													5	106					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15699542	15699542	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:15699542C>A	ENST00000281171.4	+	13	2534	c.2204C>A	c.(2203-2205)aCc>aAc	p.T735N	PTPRO_ENST00000544244.1_5'UTR|PTPRO_ENST00000445537.2_5'UTR|PTPRO_ENST00000542557.1_5'UTR|PTPRO_ENST00000348962.2_Missense_Mutation_p.T735N|PTPRO_ENST00000442921.2_5'UTR	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	735	Fibronectin type-III 8.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GTGAACAAAACCCAGACTTCA	0.388000													5	21					0.000602214	0.000634943	1	1	0
BTBD7	55727	broad.mit.edu	37	14	93760396	93760396	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:93760396A>G	ENST00000334746.5	-	3	1277	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	BTBD7_ENST00000393170.2_5'UTR|BTBD7_ENST00000298896.3_Missense_Mutation_p.Y324H|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Missense_Mutation_p.Y324H	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	324	BTB 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACTGTTGCATATTTTTTTGGT	0.418000													4	68					0	0	1	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858146	149858146	+	Silent	SNP	G	G	C			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:149858146G>C	ENST00000369155.2	-	1	86	c.45C>G	c.(43-45)tcC>tcG	p.S15S		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	15					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGGCTTTCTTGGAGCCCTTTT	0.537000													35	77					0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65303482	65303482	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:65303482C>A	ENST00000524944.1	+	11	1478	c.1445C>A	c.(1444-1446)cCg>cAg	p.P482Q	SCYL1_ENST00000279270.6_Missense_Mutation_p.P482Q|SCYL1_ENST00000270176.5_Missense_Mutation_p.P482Q|SCYL1_ENST00000533862.1_Missense_Mutation_p.P482Q|SCYL1_ENST00000420247.2_Missense_Mutation_p.P482Q|SCYL1_ENST00000527630.1_Missense_Mutation_p.P482Q|SCYL1_ENST00000525364.1_Missense_Mutation_p.P482Q|SCYL1_ENST00000527009.1_Missense_Mutation_p.P339Q			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	482					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CCGTTTGCACCGTCCCGGGTT	0.597000													18	63					4.72057e-08	5.03182e-08	1	1	0
BTN2A3P	54718	broad.mit.edu	37	6	26431040	26431040	+	RNA	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:26431040A>G	ENST00000466808.2	+	0	1447																											GGACAAAAGAAGTGTGACATT	0.547000													22	50					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265211	39265211	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr13:39265211A>T	ENST00000280481.7	+	1	3946	c.3730A>T	c.(3730-3732)Aat>Tat	p.N1244Y		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1244					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)		TCAGCTGATAAATGGCACGGT	0.438000													65	178					0	0	1	0	0
RMND5A	64795	broad.mit.edu	37	2	86947840	86947840	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:86947840A>T	ENST00000283632.4	+	1	545	c.50A>T	c.(49-51)aAg>aTg	p.K17M	RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	17										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						GTGCTGCACAAGTTCTCAGGC	0.687000													4	1					0	0	1	0	0
MT-ND5	4540	broad.mit.edu	37	MT	13208	13208	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chrM:13208G>C	ENST00000361567.2	+	1	872	c.872G>C	c.(871-873)tGc>tCc	p.C291S				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	291					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	CGCAGCAGTCTGCGCCCTTAC	0.453000													30	104					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152763322	152763322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:152763322G>A	ENST00000367255.5	-	31	4497	c.3896C>T	c.(3895-3897)gCg>gTg	p.A1299V	SYNE1_ENST00000341594.5_Missense_Mutation_p.A1365V|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1299V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1299V|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1289V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1306V|SYNE1_ENST00000413186.2_Missense_Mutation_p.A1299V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1306V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1299					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCCTGCTGCGCCTGCGCGAT	0.567000										HNSCC(10;0.0054)			22	91					0	0	1	0	0
TMEM198	130612	broad.mit.edu	37	2	220412472	220412472	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:220412472C>T	ENST00000344458.2	+	4	996	c.411C>T	c.(409-411)tcC>tcT	p.S137S	TMEM198_ENST00000373883.3_Silent_p.S137S			Q66K66	TM198_HUMAN	transmembrane protein 198	137	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGCTGGGCTCCGCACCCTACT	0.716000													12	32					0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39658663	39658663	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:39658663C>T	ENST00000246635.3	-	6	1253	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	KRT13_ENST00000587544.1_Missense_Mutation_p.A403T|KRT13_ENST00000336861.3_Missense_Mutation_p.A403T	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	403	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)				CGGTAGGTGGCGATCTCCTGC	0.597000													48	103					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62631039	62631039	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr20:62631039G>A	ENST00000535781.1	+	8	1061	c.950G>A	c.(949-951)cGc>cAc	p.R317H	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	317					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GCATCAGCCCGCCTGGAAGAA	0.557000													20	28					0	0	1	0	0
CMTM5	116173	broad.mit.edu	37	14	23846483	23846483	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:23846483G>A	ENST00000359320.3	+	1	467	c.23G>A	c.(22-24)cGg>cAg	p.R8Q	CMTM5_ENST00000339180.4_Missense_Mutation_p.R8Q|CMTM5_ENST00000555731.1_Missense_Mutation_p.R8Q|CMTM5_ENST00000382809.2_Missense_Mutation_p.R8Q|CMTM5_ENST00000342473.4_Missense_Mutation_p.R8Q|CMTM5_ENST00000397227.3_Missense_Mutation_p.R8Q	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	8					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CGAGATCGCCGGGACCGGCAC	0.607000													26	77					0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176024594	176024594	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:176024594C>T	ENST00000303991.4	-	2	2419	c.2242G>A	c.(2242-2244)Gtg>Atg	p.V748M		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	748						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCGGCTCCACGCGGCCTTCA	0.687000													7	19					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103214639	103214639	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:103214639C>T	ENST00000428762.1	-	30	4570	c.4411G>A	c.(4411-4413)Gga>Aga	p.G1471R	RELN_ENST00000424685.2_Missense_Mutation_p.G1471R|RELN_ENST00000343529.5_Missense_Mutation_p.G1471R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1471					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)		CAGCCAGTTCCAACCTGGGCA	0.512000													8	123					0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73951452	73951452	+	Splice_Site	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:73951452C>A	ENST00000370384.3	-	5	1015		c.e5-1		RP11-257K9.8_ENST00000423730.3_Intron|KHDC1_ENST00000257765.5_Splice_Site	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1							integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						ATCTCCAGGCCTGCAAAATAA	0.587000													19	42					6.94344e-10	7.65357e-10	1	1	0
C7orf57	136288	broad.mit.edu	37	7	48081064	48081064	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:48081064A>G	ENST00000348904.3	+	3	401	c.189A>G	c.(187-189)atA>atG	p.I63M	C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.I108M|C7orf57_ENST00000420324.1_Missense_Mutation_p.I108M|C7orf57_ENST00000539619.1_Missense_Mutation_p.I63M	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	63										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GATACTGGATAAAAGAAACAG	0.592000													13	18					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141598619	141598619	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:141598619C>T	ENST00000389484.3	-	30	5953	c.4982G>A	c.(4981-4983)cGt>cAt	p.R1661H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1661					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)		GTATAAATTACGTGACACCCA	0.373000										TSP Lung(27;0.18)			24	80					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769728	37769728	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr22:37769728C>T	ENST00000402918.1	-	3	2632	c.1847G>A	c.(1846-1848)cGc>cAc	p.R616H	ELFN2_ENST00000349653.3_Missense_Mutation_p.R616H|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	616						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GCTCAGCTGGCGCTGTAGTGG	0.682000													7	8					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142103391	142103391	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr3:142103391G>T	ENST00000264951.4	-	21	2593	c.2476C>A	c.(2476-2478)Cct>Act	p.P826T	XRN1_ENST00000392981.2_Missense_Mutation_p.P826T	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	826					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA 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						TAAACAAAAGGAACAACTTGT	0.308000													26	89					1.85244e-09	2.01895e-09	1	1	0
OR2M3	127062	broad.mit.edu	37	1	248366532	248366532	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:248366532C>A	ENST00000456743.1	+	1	201	c.163C>A	c.(163-165)Ctc>Atc	p.L55I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGACACCCAGCTCCACACCCC	0.557000													114	271					1.54771e-57	1.80877e-57	1	1	0
MORC1	27136	broad.mit.edu	37	3	108773723	108773723	+	Silent	SNP	G	G	A	rs7631480	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr3:108773723G>A	ENST00000232603.5	-	14	1264	c.1182C>T	c.(1180-1182)ggC>ggT	p.G394G	MORC1_ENST00000483760.1_Silent_p.G394G	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	394					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.G394G(1)		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						CCACGCCTGCGCCAAGTCTGA	0.303000													22	57					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135003312	135003312	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr10:135003312G>A	ENST00000304613.3	+	9	1591	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	KNDC1_ENST00000368572.2_Missense_Mutation_p.E524K|KNDC1_ENST00000368571.2_Missense_Mutation_p.E459K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	524	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCTGGTAACTGAAAAGGTACC	0.642000													5	25					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34824125	34824125	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:34824125C>T	ENST00000265109.3	+	15	2465	c.2178C>T	c.(2176-2178)aaC>aaT	p.N726N	RAI14_ENST00000515799.1_Silent_p.N729N|RAI14_ENST00000512629.1_Silent_p.N697N|RAI14_ENST00000397449.1_Silent_p.N719N|RAI14_ENST00000506376.1_Silent_p.N718N|RAI14_ENST00000428746.2_Silent_p.N726N|RAI14_ENST00000503673.1_Silent_p.N726N	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	726						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AAAAAGAGAACTCTGTCTCTA	0.408000													25	33					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125175049	125175049	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:125175049C>G	ENST00000431078.1	+	4	775	c.411C>G	c.(409-411)agC>agG	p.S137R		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	137	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATGCTGACAGCGTGGTGCACC	0.488000													11	25					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38023338	38023338	+	Splice_Site	SNP	G	G	C			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr4:38023338G>C	ENST00000261439.4	+	6	1564	c.1210_splice	c.e6+1	p.E403_splice	TBC1D1_ENST00000508802.1_Splice_Site_p.E403_splice	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	403	PID.					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						AGAGGATAGAGGGTGAGTAGG	0.552000													3	20					0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140058119	140058119	+	Splice_Site	SNP	C	C	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr9:140058119C>G	ENST00000371561.3	+	17	3539	c.2443_splice	c.e17+1	p.A814_splice	GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Splice_Site_p.A835_splice|GRIN1_ENST00000315048.3_Splice_Site_p.A814_splice|GRIN1_ENST00000350902.5_Splice_Site_p.A814_splice|GRIN1_ENST00000371553.3_Splice_Site_p.A835_splice|GRIN1_ENST00000371550.4_Splice_Site_p.A814_splice|GRIN1_ENST00000371555.4_Splice_Site_p.A835_splice|GRIN1_ENST00000371559.4_Splice_Site_p.A814_splice|GRIN1_ENST00000371560.3_Splice_Site_p.A835_splice	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	814					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	AGAACATGGCCGGTGCGTTCT	0.597000													13	40					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347107	71347107	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr4:71347107C>A	ENST00000413702.1	+	4	934	c.646C>A	c.(646-648)Ccc>Acc	p.P216T	MUC7_ENST00000304887.5_Missense_Mutation_p.P216T|MUC7_ENST00000456088.1_Missense_Mutation_p.P216T	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	216	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGCTGCCCCACCCACACCTCC	0.597000													4	43					0.150653	0.150653	1	1	0
ADAM20	8748	broad.mit.edu	37	14	70989374	70989374	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:70989374G>A	ENST00000256389.3	-	2	2495	c.2251C>T	c.(2251-2253)Cct>Tct	p.P751S	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	701					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GCAACCAAAGGAAGAAGGCAC	0.383000													36	74					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43821897	43821897	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr15:43821897C>T	ENST00000382031.1	+	6	8830	c.8799C>T	c.(8797-8799)ctC>ctT	p.L2933L	MAP1A_ENST00000300231.5_Silent_p.L2695L|MAP1A_ENST00000399453.1_Silent_p.L2695L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2695						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ATGTGGATCTCGCCTACATCC	0.517000													28	89					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33549375	33549375	+	Silent	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:33549375G>A	ENST00000504830.1	-	21	4574	c.4239C>T	c.(4237-4239)ccC>ccT	p.P1413P	ADAMTS12_ENST00000352040.3_Silent_p.P1328P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1413	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1413P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCTCAATGGGGGAGGAATGC	0.612000										HNSCC(64;0.19)			24	59					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2297758	2297758	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr20:2297758C>T	ENST00000381458.5	+	6	777	c.714C>T	c.(712-714)agC>agT	p.S238S	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	238					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GGAATTGGAGCGGCACTTACA	0.532000													32	91					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85420460	85420460	+	Silent	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:85420460A>G	ENST00000359152.5	-	6	4451	c.4452T>C	c.(4450-4452)taT>taC	p.Y1484Y	SYTL2_ENST00000525702.1_Silent_p.Y80Y|SYTL2_ENST00000527523.1_Silent_p.Y606Y|SYTL2_ENST00000389960.4_Silent_p.Y614Y|SYTL2_ENST00000354566.3_Silent_p.Y976Y|SYTL2_ENST00000389958.3_Silent_p.Y69Y|SYTL2_ENST00000524452.1_Silent_p.Y614Y|SYTL2_ENST00000525423.1_Silent_p.Y960Y|SYTL2_ENST00000528231.1_Silent_p.Y638Y|SYTL2_ENST00000529581.1_Silent_p.Y80Y|SYTL2_ENST00000533892.1_Silent_p.Y40Y|SYTL2_ENST00000316356.4_Silent_p.Y639Y	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	638					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GTGACTCCACATATTCAATTG	0.408000													6	121					0	0	1	0	0
FOXO3	2309	broad.mit.edu	37	6	108984910	108984910	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:108984910C>T	ENST00000406360.1	+	2	1217	c.874C>T	c.(874-876)Cct>Tct	p.P292S	FOXO3_ENST00000343882.6_Missense_Mutation_p.P292S|FOXO3_ENST00000540898.1_Missense_Mutation_p.P72S	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	292				PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860).	antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CTCCAAGTGGCCTGGCAGCCC	0.622000													4	32					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142563798	142563798	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:142563798G>A	ENST00000392957.2	+	9	1973	c.1186G>A	c.(1186-1188)Ggg>Agg	p.G396R	EPHB6_ENST00000411471.2_Missense_Mutation_p.G119R|EPHB6_ENST00000442129.1_Missense_Mutation_p.G396R	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	396	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCGGGAGCTGGGGGGTCGAGG	0.652000													7	19					0	0	1	0	0
RCE1	9986	broad.mit.edu	37	11	66612399	66612399	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:66612399G>A	ENST00000309657.3	+	5	555	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	RCE1_ENST00000524506.1_Missense_Mutation_p.A171T|RCE1_ENST00000525356.1_Missense_Mutation_p.A48T	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	171					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CCAAGTGATCGCCCCGCTGAC	0.632000													15	28					0	0	1	0	0
MS4A15	219995	broad.mit.edu	37	11	60531293	60531293	+	Silent	SNP	G	G	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:60531293G>T	ENST00000405633.3	+	2	166	c.87G>T	c.(85-87)ctG>ctT	p.L29L	MS4A15_ENST00000528170.1_Silent_p.L29L|MS4A15_ENST00000337911.4_Intron	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	29						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						CGGCCATTCTGCCCACATCCA	0.617000													37	88					1.00953e-15	1.13866e-15	1	1	0
ESPNP	284729	broad.mit.edu	37	1	17038456	17038459	+	RNA	DEL	CCTC	CCTC	-	rs66935947		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:17038456_17038459delCCTC	ENST00000492551.1	-	0	194					NR_026567.1																						TGTCCCTCTGCCTCCCTCCCTCCC	0.608													4	3	---	---	---	---					
AC144450.1	0	broad.mit.edu	37	2	1601146	1601147	+	RNA	DEL	AC	AC	-			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:1601146_1601147delAC	ENST00000438247.1	-	0	515																											CACAGATCAGacacacacacac	0.495													2	4	---	---	---	---					
EMX1	2016	broad.mit.edu	37	2	73145275	73145276	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:73145275_73145276insT	ENST00000258106.6	+	1	672_673	c.294_295insT	c.(292-297)ggtcccfs	p.P99fs	EMX1_ENST00000394111.5_Intron	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	66						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(3)	6						TCGTGAGTGGCTTCCCTgccgc	0.757													5	8	---	---	---	---					
RBMS3-AS3	100873979	broad.mit.edu	37	3	29308455	29308456	+	RNA	INS	-	-	ACACAC	rs35874448	by1000genomes	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr3:29308455_29308456insACACAC	ENST00000413430.1	-	0	49																											TAAGAGTTGGGacacacacaca	0.426													2	4	---	---	---	---					
SLC22A16	85413	broad.mit.edu	37	6	110763501	110763509	+	In_Frame_Del	DEL	AAAACGAGT	AAAACGAGT	-	rs149948718	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:110763501_110763509delAAAACGAGT	ENST00000368919.3	-	4	1187_1195	c.1121_1129delACTCGTTTT	c.(1120-1131)tcc>t	p.YSFS374del	SLC22A16_ENST00000439654.1_In_Frame_Del_p.YSFS374del|SLC22A16_ENST00000330550.4_In_Frame_Del_p.YSFS340del	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	374					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)		GAATTCAAGGAAAACGAGTAGAATCCCAA	0.378													13	76	---	---	---	---					
EPHB4	2050	broad.mit.edu	37	7	100403283	100403284	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:100403283_100403284insC	ENST00000358173.3	-	15	2985_2986	c.2517_2518insG	c.(2515-2520)ctccccfs	p.LP839fs	EPHB4_ENST00000360620.3_Frame_Shift_Ins_p.LP839fs	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	839	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGGGCGGGGGCAGCCGGTAGT	0.614													25	95	---	---	---	---					
COL26A1	136227	broad.mit.edu	37	7	101119424	101119425	+	RNA	DEL	TG	TG	-	rs138940285		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:101119424_101119425delTG	ENST00000313669.7	+	0	577				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		cccagctaattgtgtgtgtgtg	0.530													2	4	---	---	---	---					
RP11-114L10.2	0	broad.mit.edu	37	7	142588377	142588378	+	RNA	INS	-	-	CA	rs59168085		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:142588377_142588378insCA	ENST00000438839.1	+	0	99																											acaccccataccacacacacac	0.515													3	6	---	---	---	---					
RP11-513H8.1	0	broad.mit.edu	37	8	135234457	135234458	+	RNA	INS	-	-	AC			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr8:135234457_135234458insAC	ENST00000523317.1	-	0	84																											ataaagatcatacacacacaca	0.371													3	3	---	---	---	---					
LOC101928381	101928381	broad.mit.edu	37	9	70117457	70117458	+	RNA	INS	-	-	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr9:70117457_70117458insG	ENST00000588215.1	-	0	82																											aagaaagaaaaaGAGAGAGAGA	0.465													2	4	---	---	---	---					
AGAP11	119385	broad.mit.edu	37	10	88767686	88767686	+	RNA	DEL	T	T	-	rs71019446		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr10:88767686delT	ENST00000444431.1	+	0	2711				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AAAATGTATCttttttttttt	0.413													2	4	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)del	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713													25	17	---	---	---	---					
KRTAP5-10	387273	broad.mit.edu	37	11	71276657	71276658	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCCGGCTGTGGG	rs71049990		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:71276657_71276658insGGCTGTGGCTCCGGCTGTGGG	ENST00000398531.1	+	1	49_50	c.24_25insGGCTGTGGCTCCGGCTGTGGG	c.(22-27)gggctg>ggGGCTGTGGCTCCGGCTGTGGGgctg	p.7_8insGAVAPAV	KRTAP5-10_ENST00000376536.4_In_Frame_Ins_p.7_8insGAVAPAV	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	7						keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGCTCCGGAGGCTGTGGCTC	0.668													46	96	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89409121	89409121	+	RNA	DEL	C	C	-	rs111654563		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:89409121delC	ENST00000532352.1	+	0	1197							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TCTTTCAAAGCAGCTCTTTTA	0.294													3	5	---	---	---	---					
RP11-370I10.2	0	broad.mit.edu	37	12	48661150	48661151	+	RNA	INS	-	-	CTTCCTTCCTTCCTTC			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:48661150_48661151insCTTCCTTCCTTCCTTC	ENST00000547523.1	-	0	269																											ttccttccttccttccttcctt	0.386													2	4	---	---	---	---					
RP11-148E17.1	0	broad.mit.edu	37	14	29485098	29485105	+	RNA	DEL	TGTGTATA	TGTGTATA	-	rs1307773		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:29485098_29485105delTGTGTATA	ENST00000551227.1	+	0	418																											tgtgtgtgtgtgtgtatatatatatata	0.317													4	4	---	---	---	---					
SAMD4A	23034	broad.mit.edu	37	14	55227104	55227114	+	Frame_Shift_Del	DEL	AGCGGGGGGCT	AGCGGGGGGCT	-			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:55227104_55227114delAGCGGGGGGCT	ENST00000251091.5	+	5	1443_1453	c.1138_1148delAGCGGGGGGCT	c.(1138-1149)cfs	p.SGGL380fs	SAMD4A_ENST00000357634.3_Frame_Shift_Del_p.SGGL467fs|SAMD4A_ENST00000554335.1_Frame_Shift_Del_p.SGGL468fs|SAMD4A_ENST00000555192.1_Frame_Shift_Del_p.SGGL59fs|SAMD4A_ENST00000392067.3_Frame_Shift_Del_p.SGGL468fs	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	468	SAM.				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	p.L470fs*44(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GGCCGGGGCCAGCGGGGGGCTCCAGCCGCAC	0.739													7	18	---	---	---	---					
HERC2P9	440248	broad.mit.edu	37	15	28900331	28900331	+	RNA	DEL	A	A	-			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr15:28900331delA	ENST00000528584.1	+	0	14					NR_036443.1																						actctgtctcaaaaaaaaaaa	0.413													3	3	---	---	---	---					
MYO9A	4649	broad.mit.edu	37	15	72186069	72186071	+	In_Frame_Del	DEL	TCT	TCT	-	rs150726107	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr15:72186069_72186071delTCT	ENST00000356056.5	-	26	5563_5565	c.5091_5093delAGA	c.(5089-5094)gat>ga	p.ED1697del	MYO9A_ENST00000564571.1_In_Frame_Del_p.ED1697del|MYO9A_ENST00000424560.1_In_Frame_Del_p.ED1697del|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_In_Frame_Del_p.ED1678del	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1697	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGCTGGTTCATCTTCTTTATGGA	0.355													20	55	---	---	---	---					
RAB40B	10966	broad.mit.edu	37	17	80615785	80615786	+	Frame_Shift_Ins	INS	-	-	G	rs111549422		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:80615785_80615786insG	ENST00000571995.1	-	6	921_922	c.790_791insC	c.(790-792)gagfs	p.E264fs	RAB40B_ENST00000538809.2_IGR|RAB40B_ENST00000269347.6_Frame_Shift_Ins_p.E85fs	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	264					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.Q264P(1)|p.Q264fs*>15(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GGGGGGGCTCTGGGGGGGGCGG	0.569													14	220	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11061211	11061212	+	RNA	DEL	AA	AA	-	rs139574825		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr21:11061211_11061212delAA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tataaaaattaaaaaaaaaaaa	0.351													3	3	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11067986	11067986	+	RNA	DEL	C	C	-	rs112970011		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr21:11067986delC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACTCAGCTTCTTAAAAGTTT	0.299													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11090317	11090318	+	RNA	DEL	AA	AA	-	rs147784248		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr21:11090317_11090318delAA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		actgcatctcaaaaaaaaaaaa	0.450													2	4	---	---	---	---					
AP001347.6	0	broad.mit.edu	37	21	15470565	15470566	+	RNA	INS	-	-	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr21:15470565_15470566insA	ENST00000428809.1	+	0	372																											ccaccatcaccaccatcaccat	0.470													3	6	---	---	---	---					
CRELD2	79174	broad.mit.edu	37	22	50315936	50315973	+	Splice_Site	DEL	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	-	rs71805922	by1000genomes	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr22:50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	ENST00000404488.3	+	6	727_756	c.592_splice	c.e6-1	p.198_splice	CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000444954.1_Intron|CRELD2_ENST00000328268.4_Intron|CRELD2_ENST00000407217.3_Intron	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	197						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTTACGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCTTGCTGTC	0.622													7	14	---	---	---	---