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
IQGAP2	10788	broad.mit.edu	37	5	75954283	75954283	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:75954283G>A	ENST00000274364.6	+	21	2617		c.e21-1		IQGAP2_ENST00000396234.3_Splice_Site|IQGAP2_ENST00000379730.3_Splice_Site|IQGAP2_ENST00000502745.1_Splice_Site	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2						small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGTCACTGCAGTTGGCTCTGA	0.368000													43	66					0	0	0.013114	0	0
LGR5	8549	broad.mit.edu	37	12	71976280	71976280	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:71976280C>T	ENST00000266674.5	+	17	1908	c.1597C>T	c.(1597-1599)Ctg>Ttg	p.L533L	LGR5_ENST00000540815.2_Silent_p.L509L|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000536515.1_Silent_p.L461L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	533						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGAGGAAGACCTGAAAGCCCT	0.458000													42	85					0	0	0.011902	0	0
ATP2B4	493	broad.mit.edu	37	1	203667458	203667458	+	Missense_Mutation	SNP	C	C	T	rs148385288	by1000genomes	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:203667458C>T	ENST00000357681.5	+	3	1490	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	ATP2B4_ENST00000367219.3_Missense_Mutation_p.R123C|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R123C|ATP2B4_ENST00000391954.2_Missense_Mutation_p.R123C|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R123C	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	123					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTCCTTTTATCGCCCTGCTGG	0.483000													38	74					0	0	0.008740	0	0
OR6C6	283365	broad.mit.edu	37	12	55688823	55688823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:55688823G>A	ENST00000358433.2	-	1	193	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTCCAAAAAGGAGAAATTACG	0.393000													18	31					0	0	0.006122	0	0
DDX59	83479	broad.mit.edu	37	1	200613540	200613540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:200613540C>T	ENST00000331314.6	-	8	1915	c.1702G>A	c.(1702-1704)Gga>Aga	p.G568R	DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	568	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						AGAATGGATCCTGTGGGCTTT	0.378000													50	104					0	0	0.014410	0	0
GFPT2	9945	broad.mit.edu	37	5	179757801	179757801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:179757801C>T	ENST00000253778.8	-	6	602	c.433G>A	c.(433-435)Gat>Aat	p.D145N		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	145	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GTCTCTGTATCTGTTTCTGAC	0.463000													22	39					0	0	0.010504	0	0
OPCML	4978	broad.mit.edu	37	11	132306634	132306634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:132306634G>A	ENST00000331898.7	-	5	1282	c.704C>T	c.(703-705)tCa>tTa	p.S235L	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.S194L|OPCML_ENST00000541867.1_Missense_Mutation_p.S235L|OPCML_ENST00000524381.1_Missense_Mutation_p.S228L	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	235	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CTGACCGACTGAAACACCAGT	0.498000													24	34					0	0	0.002780	0	0
CARD6	84674	broad.mit.edu	37	5	40854198	40854198	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:40854198G>A	ENST00000254691.5	+	3	2963	c.2764G>A	c.(2764-2766)Ggt>Agt	p.G922S	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	922					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GAAGACACAAGGTGGGGCTTC	0.498000													57	103					0	0	0.014410	0	0
KCND3	3752	broad.mit.edu	37	1	112524979	112524979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:112524979G>A	ENST00000369697.1	-	1	439	c.370C>T	c.(370-372)Ctc>Ttc	p.L124F	KCND3_ENST00000302127.4_Missense_Mutation_p.L124F|KCND3_ENST00000315987.2_Missense_Mutation_p.L124F			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	124						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ATCTCCGGGAGGATGCCGTAG	0.612000													26	43					0	0	0.004656	0	0
CTSG	1511	broad.mit.edu	37	14	25043947	25043947	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:25043947C>T	ENST00000216336.2	-	3	309	c.273G>A	c.(271-273)gcG>gcA	p.A91A		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	91	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.A91A(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGGCTCTGCGCGCAGTGATGT	0.532000													36	64					0	0	0.004289	0	0
PKP4	8502	broad.mit.edu	37	2	159523019	159523019	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:159523019C>T	ENST00000389757.3	+	16	2797	c.2672C>T	c.(2671-2673)tCc>tTc	p.S891F	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000495123.1_3'UTR|PKP4_ENST00000389759.3_Missense_Mutation_p.S891F	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	891					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GTTGTTTCTTCCGTGGCAACA	0.483000										HNSCC(62;0.18)			39	36					0	0	0.009718	0	0
TRPC5	7224	broad.mit.edu	37	X	111020051	111020051	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:111020051C>T	ENST00000262839.2	-	11	3330	c.2412G>A	c.(2410-2412)aaG>aaA	p.K804K		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	804					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAGTCTTTTTCTTGCAGCCTA	0.493000													120	174					0	0	0.014410	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88885506	88885506	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:88885506G>A	ENST00000303236.3	-	9	1804	c.1503C>T	c.(1501-1503)ctC>ctT	p.L501L	EIF2AK3_ENST00000419748.1_Silent_p.L350L	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	501					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GTGGGTTGTCGAGGAATCTGA	0.353000													98	175					0	0	0.014410	0	0
DNAH11	8701	broad.mit.edu	37	7	21583153	21583153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:21583153C>T	ENST00000328843.6	+	1	321	c.290C>T	c.(289-291)aCc>aTc	p.T97I	DNAH11_ENST00000409508.3_Missense_Mutation_p.T97I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	97	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGGAAAGCACCAGCCCGGCT	0.617000									Kartagener syndrome				5	10					0	0	0.001168	0	0
SSH1	54434	broad.mit.edu	37	12	109201542	109201542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:109201542C>T	ENST00000326495.5	-	8	691	c.598G>A	c.(598-600)Ggg>Agg	p.G200R	SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000551165.1_Missense_Mutation_p.G200R|SSH1_ENST00000326470.5_Missense_Mutation_p.G211R	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	200					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTACACCCCCGGGGAAGTAG	0.612000													19	38					0	0	0.007413	0	0
AKR1D1	6718	broad.mit.edu	37	7	137798460	137798460	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:137798460G>T	ENST00000242375.3	+	8	922	c.880G>T	c.(880-882)Gaa>Taa	p.E294*	AKR1D1_ENST00000432161.1_Intron|AKR1D1_ENST00000411726.2_Nonsense_Mutation_p.E253*|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	294					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCTCACTGAAGAAGAAATGAA	0.408000													34	44					1.90571e-15	1.96231e-15	0.004289	1	0
DLG3	1741	broad.mit.edu	37	X	69665393	69665393	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:69665393G>A	ENST00000194900.4	+	1	683	c.342G>A	c.(340-342)cgG>cgA	p.R114R	DLG3_ENST00000374360.3_Silent_p.R114R			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	114					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GTACCAACCGGGACTGGTATG	0.672000													6	6					0	0	0.003080	0	0
USP20	10868	broad.mit.edu	37	9	132641905	132641905	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:132641905C>T	ENST00000315480.4	+	24	2724	c.2566C>T	c.(2566-2568)Cat>Tat	p.H856Y	USP20_ENST00000358355.1_Missense_Mutation_p.H856Y|USP20_ENST00000472108.1_3'UTR|USP20_ENST00000372429.3_Missense_Mutation_p.H856Y			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	856	DUSP 2.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				AGGAAGCGGCCATGTCCAGCT	0.657000													35	26					0	0	0.003755	0	0
HTRA3	94031	broad.mit.edu	37	4	8293174	8293174	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:8293174C>T	ENST00000307358.2	+	4	990	c.786C>T	c.(784-786)ccC>ccT	p.P262P	HTRA3_ENST00000382512.3_Silent_p.P262P	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	262	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TCGGCAGTCCCTTCGCCCTAC	0.612000													26	36					0	0	0.006320	0	0
GHRHR	2692	broad.mit.edu	37	7	31013753	31013753	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:31013753G>A	ENST00000409904.3	+	4	817	c.559_splice	c.e4+1	p.G187_splice	GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000326139.2_Splice_Site_p.G251_splice|GHRHR_ENST00000461424.1_3'UTR			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	251					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CGCTGGCTGGGGTGAGCACTG	0.627000													21	80					0	0	0.014323	0	0
CASC5	57082	broad.mit.edu	37	15	40913692	40913692	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:40913692C>T	ENST00000346991.5	+	11	1698	c.1308C>T	c.(1306-1308)gcC>gcT	p.A436A	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Silent_p.A410A			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	436	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAATATTAGCCATGACCCCAG	0.363000													64	137					0	0	0.014410	0	0
USP20	10868	broad.mit.edu	37	9	132641904	132641904	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:132641904C>T	ENST00000315480.4	+	24	2723	c.2565C>T	c.(2563-2565)ggC>ggT	p.G855G	USP20_ENST00000358355.1_Silent_p.G855G|USP20_ENST00000472108.1_3'UTR|USP20_ENST00000372429.3_Silent_p.G855G			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	855	DUSP 2.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				AAGGAAGCGGCCATGTCCAGC	0.652000													34	26					0	0	0.003755	0	0
SCN9A	6335	broad.mit.edu	37	2	167134768	167134768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:167134768G>A	ENST00000375387.4	-	15	2742	c.2402C>T	c.(2401-2403)cCa>cTa	p.P801L	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.P789L|SCN9A_ENST00000409435.1_Missense_Mutation_p.P800L|SCN9A_ENST00000303354.6_Missense_Mutation_p.P801L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	800						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATACTCATATGGATCCATGGC	0.348000													22	10					0	0	0.014323	0	0
SLAMF6	114836	broad.mit.edu	37	1	160465994	160465994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:160465994G>A	ENST00000368059.3	-	2	308	c.239C>T	c.(238-240)cCg>cTg	p.P80L	SLAMF6_ENST00000368057.3_Missense_Mutation_p.P80L|SLAMF6_ENST00000368055.1_Intron	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	80						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TCCCTGTTTCGGATTAGTCAC	0.468000													52	66					0	0	0.014410	0	0
KLHL13	90293	broad.mit.edu	37	X	117043967	117043967	+	Silent	SNP	C	C	T	rs11540264		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:117043967C>T	ENST00000371876.1	-	4	2931	c.510G>A	c.(508-510)aaG>aaA	p.K170K	KLHL13_ENST00000469946.1_Silent_p.K170K|KLHL13_ENST00000539496.1_Silent_p.K224K|KLHL13_ENST00000540167.1_Silent_p.K205K|KLHL13_ENST00000371878.1_Silent_p.K170K|KLHL13_ENST00000371882.1_Silent_p.K170K|KLHL13_ENST00000262820.3_Silent_p.K221K|KLHL13_ENST00000545703.1_Silent_p.K179K|KLHL13_ENST00000541812.1_Silent_p.K205K			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	221					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAGGAAAATTCTTCAAGACGA	0.428000													48	89					0	0	0.014410	0	0
BAZ2B	29994	broad.mit.edu	37	2	160245888	160245888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:160245888G>A	ENST00000392783.2	-	21	3679	c.3184C>T	c.(3184-3186)Cct>Tct	p.P1062S	BAZ2B_ENST00000355831.2_Missense_Mutation_p.P1028S|BAZ2B_ENST00000392782.1_Missense_Mutation_p.P1026S|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P962S|AC008277.1_ENST00000420020.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1062					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCTTCATTAGGCTTCTTTAGT	0.338000													44	27					0	0	0.014410	0	0
PHACTR1	221692	broad.mit.edu	37	6	13053620	13053620	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:13053620G>A	ENST00000379350.1	+	4	403	c.274G>A	c.(274-276)Gcg>Acg	p.A92T	PHACTR1_ENST00000482982.1_3'UTR|PHACTR1_ENST00000457702.2_5'UTR|PHACTR1_ENST00000379345.2_5'UTR|PHACTR1_ENST00000332995.7_Missense_Mutation_p.A92T			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	92						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAGGCTGGCGGCGATGCGTTC	0.502000													46	49					0	0	0.011902	0	0
C4orf17	84103	broad.mit.edu	37	4	100460485	100460485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:100460485C>T	ENST00000514652.1	+	7	1148	c.794C>T	c.(793-795)tCa>tTa	p.S265L	C4orf17_ENST00000326581.4_Missense_Mutation_p.S265L			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	265										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		ACTGCAAAATCAAAAGTGCTG	0.458000													28	75					0	0	0.009535	0	0
OR51L1	119682	broad.mit.edu	37	11	5021142	5021142	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:5021142C>T	ENST00000321543.1	+	1	930	c.930C>T	c.(928-930)gtC>gtT	p.V310V		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAAGTTTGTCCTAAGGAGGA	0.403000													17	38					0	0	0.007413	0	0
KLHL31	401265	broad.mit.edu	37	6	53519241	53519241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:53519241C>T	ENST00000370905.3	-	2	970	c.830G>A	c.(829-831)aGa>aAa	p.R277K	KLHL31_ENST00000407079.1_Missense_Mutation_p.R277K	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TTGCATCATTCTTGGTACGGA	0.408000													168	137					0	0	0.014410	0	0
SORCS2	57537	broad.mit.edu	37	4	7666085	7666085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:7666085C>T	ENST00000507866.2	+	7	1067	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	SORCS2_ENST00000329016.9_Missense_Mutation_p.R148W	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	320						integral to membrane	neuropeptide receptor activity	p.R170W(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTAGATTTTCGGTACGTCAC	0.597000													4	12					0	0	0.009096	0	0
GOLGA4	2803	broad.mit.edu	37	3	37366816	37366816	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:37366816C>T	ENST00000361924.2	+	14	3813	c.3439C>T	c.(3439-3441)Ctg>Ttg	p.L1147L	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Silent_p.L1169L	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1147	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAATAAGTCTCTGAAGGAAAA	0.393000													25	40					0	0	0.003330	0	0
VPS13C	54832	broad.mit.edu	37	15	62165535	62165535	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:62165535C>T	ENST00000261517.5	-	78	10561	c.10488G>A	c.(10486-10488)aaG>aaA	p.K3496K	VPS13C_ENST00000395896.4_Silent_p.K3496K|VPS13C_ENST00000249837.3_Silent_p.K3453K|VPS13C_ENST00000395898.3_Silent_p.K3453K	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3496					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCTGATATTCCTTGTCCATTG	0.453000													80	134					0	0	0.014410	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172582157	172582157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:172582157C>T	ENST00000534253.2	+	8	709	c.541C>T	c.(541-543)Cct>Tct	p.P181S	DYNC1I2_ENST00000508530.1_Missense_Mutation_p.P155S|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.P155S|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.P173S|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.P181S|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.P173S|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.P181S|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.P175S|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.P155S|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.P175S|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.P181S			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	181					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TGTAGTGGCTCCTAAACCACC	0.249000													11	7					0	0	0.013537	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891995	2891995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:2891995C>T	ENST00000254528.3	+	4	2029	c.1870C>T	c.(1870-1872)Cat>Tat	p.H624Y		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	624					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TGATGTGACTCATCTTCAAAA	0.423000													18	52					0	0	0.007413	0	0
FAP	2191	broad.mit.edu	37	2	163029330	163029330	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:163029330G>A	ENST00000188790.4	-	25	2379	c.2172C>T	c.(2170-2172)ttC>ttT	p.F724F	FAP_ENST00000443424.1_Silent_p.F699F|AC007750.5_ENST00000418968.2_RNA	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	724					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCATTGCCTGGAAATCCACTT	0.358000													15	16					0	0	0.004990	0	0
XKR7	343702	broad.mit.edu	37	20	30585092	30585092	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:30585092G>A	ENST00000217299.3	+	3	1746	c.1572G>A	c.(1570-1572)cgG>cgA	p.R524R		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	524						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGTCATCCGGATTGACTTGC	0.637000													20	58					0	0	0.002780	0	0
NFIA	4774	broad.mit.edu	37	1	61554268	61554268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:61554268C>T	ENST00000403491.3	+	2	959	c.475C>T	c.(475-477)Cca>Tca	p.P159S	NFIA_ENST00000485903.2_Missense_Mutation_p.P159S|NFIA_ENST00000479364.1_Intron|NFIA_ENST00000371191.1_Missense_Mutation_p.P182S|NFIA_ENST00000407417.3_Missense_Mutation_p.P151S|NFIA_ENST00000371184.2_Missense_Mutation_p.P159S|NFIA_ENST00000371185.2_Missense_Mutation_p.P159S|NFIA_ENST00000371187.3_Missense_Mutation_p.P159S|NFIA_ENST00000371189.4_Missense_Mutation_p.P204S	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	159					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						ATGCTCTAATCCAGGGCTCTG	0.463000													46	89					0	0	0.014410	0	0
WDFY3	23001	broad.mit.edu	37	4	85658343	85658343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:85658343G>A	ENST00000322366.6	-	41	7158	c.6751C>T	c.(6751-6753)Cat>Tat	p.H2251Y	WDFY3_ENST00000295888.4_Missense_Mutation_p.H2251Y			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2251						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTACCCAAATGATTCTGCCAG	0.433000													33	59					0	0	0.004878	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350382	51350382	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:51350382A>T	ENST00000327536.5	-	3	674	c.575T>A	c.(574-576)aTt>aAt	p.I192N	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	192										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		CTTCTCCACAATAACCAGCTC	0.478000													41	69					0	0	0.006999	0	0
TRPC5	7224	broad.mit.edu	37	X	111195442	111195442	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:111195442C>A	ENST00000262839.2	-	2	1125	c.207G>T	c.(205-207)ttG>ttT	p.L69F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	69					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CACTCCGGCCCAAGGGGTCCA	0.522000													45	87					1.76056e-25	1.82317e-25	0.011902	1	0
KBTBD3	143879	broad.mit.edu	37	11	105924093	105924093	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:105924093G>A	ENST00000526793.1	-	3	1482	c.1323C>T	c.(1321-1323)ccC>ccT	p.P441P	KBTBD3_ENST00000534815.1_Silent_p.P362P|KBTBD3_ENST00000531837.1_Silent_p.P441P	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	437										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ATATGCCTCTGGGTAATGGGC	0.383000													18	38					0	0	0.008871	0	0
TCTE1	202500	broad.mit.edu	37	6	44253959	44253959	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:44253959G>A	ENST00000371505.4	-	3	710	c.588C>T	c.(586-588)ttC>ttT	p.F196F	TCTE1_ENST00000371504.1_Silent_p.F43F|TCTE1_ENST00000371503.3_Silent_p.F43F|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	196										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCGGCGGAAGGAACTGATCGA	0.647000													17	54					0	0	0.012319	0	0
MUC17	140453	broad.mit.edu	37	7	100681427	100681427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:100681427C>T	ENST00000306151.4	+	3	6794	c.6730C>T	c.(6730-6732)Cct>Tct	p.P2244S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2244	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCAGCAACTCCTGTTGACAC	0.498000													357	352					0	0	0.014410	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55049201	55049201	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:55049201C>T	ENST00000335056.3	+	6	1004	c.966C>T	c.(964-966)ctC>ctT	p.L322L	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TAAGAGTACTCCTCTGTCATT	0.443000													36	71					0	0	0.008740	0	0
LPHN2	23266	broad.mit.edu	37	1	82450271	82450271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:82450271G>A	ENST00000370728.1	+	22	3920	c.3275G>A	c.(3274-3276)cGa>cAa	p.R1092Q	LPHN2_ENST00000370721.1_Missense_Mutation_p.R1017Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R1079Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.R1079Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.R1107Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R1107Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R1107Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R1094Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.R1092Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.R1079Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.R1107Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R1092Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.R1094Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.R1079Q|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	1092					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.R1079Q(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATGCAGGTACGAAAAGAATAT	0.423000													42	80					0	0	0.010771	0	0
FAM110A	83541	broad.mit.edu	37	20	826242	826242	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:826242C>T	ENST00000304189.2	+	3	1176	c.795C>T	c.(793-795)ccC>ccT	p.P265P	RP11-276A18.2_ENST00000505691.2_RNA|FAM110A_ENST00000541082.1_Silent_p.P265P|FAM110A_ENST00000381941.3_Silent_p.P265P|FAM110A_ENST00000381939.1_Silent_p.P265P|FAM110A_ENST00000246100.3_Silent_p.P265P			Q9BQ89	F110A_HUMAN	family with sequence similarity 110, member A	265						microtubule organizing center|spindle pole	protein binding			breast(1)|lung(2)	3						AGCGCGTTCCCTATGGCGTGT	0.687000													20	34					0	0	0.012319	0	0
MAP3K13	9175	broad.mit.edu	37	3	185190820	185190820	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:185190820C>T	ENST00000265026.3	+	11	2035	c.1701C>T	c.(1699-1701)tcC>tcT	p.S567S	MAP3K13_ENST00000443863.1_Silent_p.S423S|MAP3K13_ENST00000446828.1_Silent_p.S360S|MAP3K13_ENST00000424227.1_Silent_p.S567S|MAP3K13_ENST00000535426.1_Silent_p.S423S	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	567					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CCACTGCATCCCCTTTGTCCG	0.522000													75	137					0	0	0.014410	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806718	6806718	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:6806718C>T	ENST00000307401.4	+	1	471	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CGTCCTGGATCCTGGCATCCC	0.522000													27	53					0	0	0.006320	0	0
SERPINA3	12	broad.mit.edu	37	14	95081291	95081291	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:95081291G>A	ENST00000553947.1	+	5	1476	c.588G>A	c.(586-588)caG>caA	p.Q196Q	SERPINA3_ENST00000393080.4_Silent_p.Q171Q|SERPINA3_ENST00000467132.1_Silent_p.Q171Q|SERPINA3_ENST00000393078.3_Silent_p.Q171Q|SERPINA3_ENST00000556388.1_Intron			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	171					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CTGACTTTCAGGACTCAGCTG	0.498000													29	49					0	0	0.007291	0	0
H1FNT	341567	broad.mit.edu	37	12	48723228	48723228	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:48723228G>A	ENST00000335017.1	+	1	466	c.154G>A	c.(154-156)Ggc>Agc	p.G52S		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	52					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						ACCATCGAGGGGCTGCTCAAG	0.622000													8	19					0	0	0.004482	0	0
RUVBL1	8607	broad.mit.edu	37	3	127817732	127817732	+	Silent	SNP	T	T	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:127817732T>C	ENST00000464873.1	-	7	1380	c.630A>G	c.(628-630)gaA>gaG	p.E210E	RUVBL1_ENST00000417360.1_Silent_p.E270E|RUVBL1_ENST00000322623.5_Silent_p.E270E			Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	270					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		TACCTGTGATTTCTGTCTTCT	0.542000													36	57					0	0	0.006999	0	0
BCHE	590	broad.mit.edu	37	3	165547927	165547927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:165547927C>T	ENST00000264381.3	-	2	1061	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	299					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AGAAGAATTTCTTGGGGATCT	0.408000													27	52					0	0	0.007291	0	0
GATA1	2623	broad.mit.edu	37	X	48652475	48652475	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:48652475C>T	ENST00000376670.3	+	6	1257	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	382					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TCATGCCTTTCCCTGGACCCC	0.662000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								10	30					0	0	0.010729	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570766	47570766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:47570766G>A	ENST00000253048.5	-	15	2796	c.2759C>T	c.(2758-2760)cCg>cTg	p.P920L	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	920							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CGTTGGGGGCGGCCCAGACCC	0.716000													20	47					0	0	0.007413	0	0
SLIT1	6585	broad.mit.edu	37	10	98803198	98803198	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:98803198G>A	ENST00000266058.4	-	19	2171	c.1926C>T	c.(1924-1926)ctC>ctT	p.L642L	SLIT1_ENST00000371070.4_Silent_p.L642L|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	642					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGTAGAGCGAGAGGAGCCGGA	0.647000													29	28					0	0	0.008361	0	0
SHANK1	50944	broad.mit.edu	37	19	51190035	51190035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:51190035C>T	ENST00000293441.1	-	19	2442	c.2424G>A	c.(2422-2424)atG>atA	p.M808I	SHANK1_ENST00000391813.1_Missense_Mutation_p.M195I|SHANK1_ENST00000391814.1_Missense_Mutation_p.M816I|SHANK1_ENST00000359082.3_Missense_Mutation_p.M799I	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	808					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCTTTTTCTCCATGCTGGGCA	0.701000													18	36					0	0	0.002780	0	0
PORCN	64840	broad.mit.edu	37	X	48372657	48372657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:48372657C>T	ENST00000367574.4	+	7	1008	c.503C>T	c.(502-504)tCc>tTc	p.S168F	PORCN_ENST00000355092.3_Missense_Mutation_p.S244F|PORCN_ENST00000361988.3_Missense_Mutation_p.S239F|PORCN_ENST00000537758.1_Missense_Mutation_p.S250F|PORCN_ENST00000326194.6_Missense_Mutation_p.S250F|PORCN_ENST00000359882.4_Missense_Mutation_p.S244F|PORCN_ENST00000355961.4_Missense_Mutation_p.S245F			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	250			G -> R (in FODH).		Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTGCTGTCTCCTTCCACTTC	0.587000													43	73					0	0	0.011902	0	0
CENPE	1062	broad.mit.edu	37	4	104057328	104057328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:104057328C>T	ENST00000265148.3	-	40	6581	c.6492G>A	c.(6490-6492)atG>atA	p.M2164I	CENPE_ENST00000380026.3_Missense_Mutation_p.M2043I	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2164	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTGGAATTCCATGGAGCATC	0.318000													49	69					0	0	0.014410	0	0
LGR4	55366	broad.mit.edu	37	11	27389878	27389878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:27389878G>A	ENST00000379214.4	-	18	2835	c.2392C>T	c.(2392-2394)Cca>Tca	p.P798S	LGR4_ENST00000389858.4_Missense_Mutation_p.P774S	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	798						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TACAGGACTGGATTCAGGCAA	0.393000													57	90					0	0	0.014410	0	0
NRIP2	83714	broad.mit.edu	37	12	2943930	2943930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:2943930G>A	ENST00000337508.4	-	1	260	c.220C>T	c.(220-222)Cga>Tga	p.R74*		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	74					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCTCGGTCTCGAAGCTGTGCC	0.672000													83	151					0	0	0.014410	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136781	40136781	+	Silent	SNP	C	C	T	rs147676362	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:40136781C>T	ENST00000278198.2	-	2	3025	c.1062G>A	c.(1060-1062)ccG>ccA	p.P354P	LRRC4C_ENST00000527150.1_Silent_p.P354P|LRRC4C_ENST00000530763.1_Silent_p.P354P|LRRC4C_ENST00000528697.1_Silent_p.P354P			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	354	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CCACAATCACCGGAGCATAGC	0.522000													37	57					0	0	0.003755	0	0
PCED1A	64773	broad.mit.edu	37	20	2816841	2816841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:2816841G>A	ENST00000360652.2	-	7	1463	c.961C>T	c.(961-963)Ccc>Tcc	p.P321S	PCED1A_ENST00000356872.3_Missense_Mutation_p.P270S	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A																		aaaggcatgggaggaggcaaa	0.622000													21	45					0	0	0.010504	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186919842	186919842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:186919842G>A	ENST00000367466.3	+	13	1470	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.E380K	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	440	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	CAGTGATGATGAATCACACGA	0.388000													18	25					0	0	0.006122	0	0
SYNE1	23345	broad.mit.edu	37	6	152529294	152529294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:152529294C>T	ENST00000367255.5	-	125	23238	c.22637G>A	c.(22636-22638)gGa>gAa	p.G7546E	SYNE1_ENST00000356820.4_Missense_Mutation_p.G2070E|SYNE1_ENST00000265368.4_Missense_Mutation_p.G7546E|SYNE1_ENST00000341594.5_Missense_Mutation_p.G7158E|SYNE1_ENST00000448038.1_Missense_Mutation_p.G7475E|SYNE1_ENST00000423061.1_Missense_Mutation_p.G7475E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7546					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)		GCGAATCACTCCCTGCCATTG	0.468000										HNSCC(10;0.0054)			20	21					0	0	0.003330	0	0
TMC5	79838	broad.mit.edu	37	16	19451869	19451869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:19451869C>T	ENST00000396229.2	+	3	1258	c.509C>T	c.(508-510)tCt>tTt	p.S170F	TMC5_ENST00000381414.4_Missense_Mutation_p.S170F|TMC5_ENST00000542583.2_Missense_Mutation_p.S170F|TMC5_ENST00000541464.1_Missense_Mutation_p.S170F	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	170						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAGAGCAACTCTGATCATCCT	0.483000													64	148					0	0	0.014410	0	0
OCRL	4952	broad.mit.edu	37	X	128692675	128692675	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:128692675C>T	ENST00000371113.4	+	7	670	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	OCRL_ENST00000357121.5_Nonsense_Mutation_p.Q169*|OCRL_ENST00000486673.1_3'UTR	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	169					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTCACAAAATCAGCCTACTGG	0.393000													33	53					0	0	0.010818	0	0
NPY4R	5540	broad.mit.edu	37	10	47087903	47087903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:47087903C>T	ENST00000374312.1	+	3	1539	c.1120C>T	c.(1120-1122)Ccc>Tcc	p.P374S	NPY4R_ENST00000395716.1_Missense_Mutation_p.P374S	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		CAGGTCCAATCCCATTTAACC	0.592000													19	41					0	0	0.010504	0	0
EPAS1	2034	broad.mit.edu	37	2	46607833	46607833	+	Silent	SNP	C	C	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:46607833C>A	ENST00000263734.3	+	12	2532	c.2022C>A	c.(2020-2022)ccC>ccA	p.P674P		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	674					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.P674P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCTCTCCACCCCATGTCTCCA	0.592000													29	120					3.62531e-18	3.74624e-18	0.004289	1	0
ATP10B	23120	broad.mit.edu	37	5	160025810	160025810	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:160025810C>G	ENST00000327245.5	-	22	4377	c.3531G>C	c.(3529-3531)ttG>ttC	p.L1177F		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1177					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATAGCTCAGGCAATGCCAGGA	0.493000													133	234					0	0	0.014410	0	0
ZNF423	23090	broad.mit.edu	37	16	49670602	49670602	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:49670602G>A	ENST00000561648.1	-	4	2514	c.2461C>T	c.(2461-2463)Ctg>Ttg	p.L821L	ZNF423_ENST00000535559.1_Silent_p.L704L|ZNF423_ENST00000562520.1_Silent_p.L761L|ZNF423_ENST00000567169.1_Silent_p.L704L|ZNF423_ENST00000563137.2_Silent_p.L761L|ZNF423_ENST00000262383.2_Silent_p.L821L|ZNF423_ENST00000562871.1_Silent_p.L761L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	821					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTCTCCAGCAGGATGATGGCG	0.567000													15	12					0	0	0.002450	0	0
DUSP27	92235	broad.mit.edu	37	1	167097200	167097200	+	Silent	SNP	G	G	A	rs149238405		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:167097200G>A	ENST00000361200.2	+	6	2998	c.2832G>A	c.(2830-2832)acG>acA	p.T944T	DUSP27_ENST00000271385.5_Silent_p.T944T|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.T944T			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	944	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCCTCAGGACGGAGGAAAAAC	0.507000													16	28					0	0	0.003163	0	0
THRB	7068	broad.mit.edu	37	3	24270443	24270443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:24270443G>A	ENST00000396671.2	-	4	356	c.8C>T	c.(7-9)cCc>cTc	p.P3L	THRB_ENST00000356447.4_Missense_Mutation_p.P3L|THRB_ENST00000416420.1_Missense_Mutation_p.P3L	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	3	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CATACTGTTGGGAGTCATAGG	0.313000													28	66					0	0	0.004289	0	0
SBF2	81846	broad.mit.edu	37	11	9879814	9879814	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:9879814A>C	ENST00000256190.8	-	18	2196	c.2059T>G	c.(2059-2061)Tca>Gca	p.S687A	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	687					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCCTTGGCTGAGAGATAAAGG	0.438000													62	101					0	0	0.014410	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657239	72657239	+	RNA	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:72657239C>T	ENST00000425256.1	-	0	2672					NR_002164.1																						tctcccaatcccttgggacta	0.502000													32	47					0	0	0.007835	0	0
PLXNB1	5364	broad.mit.edu	37	3	48461395	48461395	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:48461395C>T	ENST00000358536.4	-	11	2569	c.2300G>A	c.(2299-2301)gGa>gAa	p.G767E	PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.G767E|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	767	Pro-rich.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTTCCAGGTCCATTTTGGGG	0.652000													14	18					0	0	0.003163	0	0
NME8	51314	broad.mit.edu	37	7	37890311	37890311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:37890311G>A	ENST00000199447.4	+	5	544	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.E58K	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	58	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	p.E58K(1)									TGAACTGAACGAAGACGAAAT	0.318000													26	95					0	0	0.006320	0	0
DSP	1832	broad.mit.edu	37	6	7565653	7565653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:7565653C>T	ENST00000379802.3	+	7	1180	c.839C>T	c.(838-840)tCc>tTc	p.S280F	DSP_ENST00000418664.2_Missense_Mutation_p.S280F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	280	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CAGGCCACGTCCAGGGAGATC	0.512000													24	65					0	0	0.004656	0	0
KIAA1468	57614	broad.mit.edu	37	18	59911996	59911996	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:59911996G>A	ENST00000256858.6	+	11	1868		c.e11-1		KIAA1468_ENST00000398130.2_Splice_Site			Q9P260	K1468_HUMAN	KIAA1468								binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TATTTCTTTAGGAGTTGATCC	0.358000													21	40					0	0	0.002780	0	0
SPEF2	79925	broad.mit.edu	37	5	35779286	35779286	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:35779286T>A	ENST00000440995.2	+	30	4270	c.4270T>A	c.(4270-4272)Tat>Aat	p.Y1424N	SPEF2_ENST00000303129.4_5'UTR|SPEF2_ENST00000356031.3_Missense_Mutation_p.Y1429N|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1429					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAATGAACTTTATTTAAGCCA	0.378000													20	57					0	0	0.014323	0	0
PSME4	23198	broad.mit.edu	37	2	54153116	54153116	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:54153116G>A	ENST00000404125.1	-	13	1693	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	546					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACTGTAAGACGAAATCCTCAA	0.363000													21	41					0	0	0.002780	0	0
RIMS2	9699	broad.mit.edu	37	8	104987645	104987645	+	Silent	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:104987645A>G	ENST00000507740.1	+	13	2450	c.2214A>G	c.(2212-2214)tcA>tcG	p.S738S	RIMS2_ENST00000262231.10_Silent_p.S785S|RIMS2_ENST00000406091.3_Silent_p.S946S|RIMS2_ENST00000436393.2_Silent_p.S724S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1008	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAATGTCATCAAACCACTGTT	0.393000										HNSCC(12;0.0054)			11	27					0	0	0.001855	0	0
SH3BP1	23616	broad.mit.edu	37	22	38046701	38046701	+	Missense_Mutation	SNP	C	C	T	rs146231662		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:38046701C>T	ENST00000599616.1	+	14	1375	c.1375C>T	c.(1375-1377)Cca>Tca	p.P459S	SH3BP1_ENST00000357436.4_Missense_Mutation_p.P523S|Z83844.1_ENST00000456099.1_RNA			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	523	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					agctccggccccagccTTGGC	0.647000													14	40					0	0	0.004007	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42168927	42168927	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:42168927C>T	ENST00000444063.1	+	17	2172	c.2040C>T	c.(2038-2040)gtC>gtT	p.V680V	L3MBTL1_ENST00000418998.1_Silent_p.V748V|L3MBTL1_ENST00000373135.3_Silent_p.V680V|L3MBTL1_ENST00000373134.1_Silent_p.V685V|L3MBTL1_ENST00000427442.2_Silent_p.V748V			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	680					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CCTCGACAGTCGCCAAGTGGA	0.612000													19	51					0	0	0.014323	0	0
COL19A1	1310	broad.mit.edu	37	6	70916922	70916922	+	Missense_Mutation	SNP	C	C	T	rs143391424	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:70916922C>T	ENST00000322773.4	+	51	3475	c.3373C>T	c.(3373-3375)Cca>Tca	p.P1125S	COL19A1_ENST00000393344.1_Missense_Mutation_p.P747S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1125					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAGATGTAACCCAGAAGATTG	0.517000													101	70					0	0	0.014410	0	0
KCNB2	9312	broad.mit.edu	37	8	73849566	73849566	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:73849566G>A	ENST00000523207.1	+	3	2564	c.1976G>A	c.(1975-1977)gGa>gAa	p.G659E		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	659					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGAGAGAAAGGACCTGCTGCC	0.562000													15	35					0	0	0.002450	0	0
OR10H1	26539	broad.mit.edu	37	19	15918348	15918348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:15918348G>A	ENST00000334920.2	-	1	588	c.500C>T	c.(499-501)gCc>gTc	p.A167V		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TCCACAGAAGGCGAGGTGGAA	0.617000													38	50					0	0	0.011902	0	0
ARX	170302	broad.mit.edu	37	X	25033751	25033751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:25033751C>T	ENST00000379044.4	-	1	314	c.104G>A	c.(103-105)cGg>cAg	p.R35Q		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	35						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						CGGGCTCCTCCGGCCCAGGAT	0.612000													12	11					0	0	0.010729	0	0
LCE1D	353134	broad.mit.edu	37	1	152770517	152770517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:152770517C>T	ENST00000326233.6	+	2	290	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	83	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGGTCCCACCGTCGCAGACC	0.706000													22	16					0	0	0.010504	0	0
OR8U1	219417	broad.mit.edu	37	11	56143918	56143918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:56143918G>A	ENST00000302270.1	+	1	819	c.819G>A	c.(817-819)atG>atA	p.M273I		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CAGACAAGATGGCCTCTGTCT	0.448000													77	118					0	0	0.014410	0	0
KDM4A	9682	broad.mit.edu	37	1	44149373	44149373	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:44149373T>G	ENST00000372396.3	+	12	1887	c.1753T>G	c.(1753-1755)Ttt>Gtt	p.F585V		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	585					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TGAATACATGTTTTCCCTAGA	0.473000													36	52					0	0	0.006230	0	0
AXDND1	126859	broad.mit.edu	37	1	179339203	179339203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:179339203G>A	ENST00000367618.3	+	4	751	c.364G>A	c.(364-366)Gga>Aga	p.G122R	AXDND1_ENST00000457238.2_Missense_Mutation_p.G122R|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	122										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CTCCCTCACAGGAGCTGGAAG	0.438000													16	20					0	0	0.003163	0	0
FMNL3	91010	broad.mit.edu	37	12	50044968	50044968	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:50044968C>T	ENST00000335154.5	-	16	2013	c.1780G>A	c.(1780-1782)Gat>Aat	p.D594N	FMNL3_ENST00000550488.1_Missense_Mutation_p.D594N|FMNL3_ENST00000352151.5_Missense_Mutation_p.D543N|FMNL3_ENST00000293590.5_Missense_Mutation_p.D594N	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	594	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						ATCTTCTCATCATCAAGTTCG	0.498000													39	56					0	0	0.010771	0	0
FCRL3	115352	broad.mit.edu	37	1	157669493	157669493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:157669493C>T	ENST00000368184.3	-	3	332	c.41G>A	c.(40-42)aGa>aAa	p.R14K	FCRL3_ENST00000368186.5_Missense_Mutation_p.R14K	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	14						integral to membrane|plasma membrane	receptor activity	p.R14K(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TGATTGTTCTCTTCCAGGAGC	0.478000													7	15					0	0	0.003080	0	0
AMPD1	270	broad.mit.edu	37	1	115218214	115218214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:115218214G>A	ENST00000369538.3	-	11	1750	c.1703C>T	c.(1702-1704)cCa>cTa	p.P568L	AMPD1_ENST00000520113.2_Missense_Mutation_p.P572L|AMPD1_ENST00000353928.6_Missense_Mutation_p.P539L	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	539					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AGTGTAAGATGGATTCTTTTC	0.468000													56	87					0	0	0.014410	0	0
PRR14	78994	broad.mit.edu	37	16	30666289	30666289	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:30666289C>A	ENST00000542965.2	+	7	1454	c.998C>A	c.(997-999)tCc>tAc	p.S333Y	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.S333Y			Q9BWN1	PRR14_HUMAN	proline rich 14	333	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CGAAGCTACTCCTGCCCTGAT	0.677000													12	50					5.50884e-06	5.62473e-06	0.013537	1	0
BCL2L15	440603	broad.mit.edu	37	1	114423762	114423762	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:114423762C>T	ENST00000393316.3	-	4	646	c.474_splice	c.e4-1	p.E159_splice	BCL2L15_ENST00000488450.1_5'UTR|BCL2L15_ENST00000471267.1_Splice_Site_p.E84_splice|BCL2L15_ENST00000393320.3_Splice_Site_p.G43_splice|AP4B1-AS1_ENST00000419536.1_RNA	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	159					apoptosis					breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCAGATTTTCCTAGGGAAGA	0.418000													19	51					0	0	0.012319	0	0
DNAH11	8701	broad.mit.edu	37	7	21789969	21789969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:21789969G>A	ENST00000328843.6	+	55	8979	c.8948G>A	c.(8947-8949)cGa>cAa	p.R2983Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.R2976Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2983	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCCAGGGTGCGACTACAGCTC	0.373000									Kartagener syndrome				13	13					0	0	0.004007	0	0
HTRA3	94031	broad.mit.edu	37	4	8293173	8293173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:8293173C>T	ENST00000307358.2	+	4	989	c.785C>T	c.(784-786)cCc>cTc	p.P262L	HTRA3_ENST00000382512.3_Missense_Mutation_p.P262L	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	262	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						ATCGGCAGTCCCTTCGCCCTA	0.617000													26	37					0	0	0.006320	0	0
OASL	8638	broad.mit.edu	37	12	121458598	121458598	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:121458598G>A	ENST00000257570.5	-	6	1581	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	437	Ubiquitin-like 2.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	p.F437F(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATTCTTCACGAAGACCTGGA	0.542000													33	73					0	0	0.003271	0	0
UPK3B	80761	broad.mit.edu	37	7	76144563	76144563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:76144563G>A	ENST00000419923.2	+	4	1183	c.958G>A	c.(958-960)Gag>Aag	p.E320K	UPK3B_ENST00000334348.3_3'UTR|UPK3B_ENST00000394849.1_Missense_Mutation_p.E265K|UPK3B_ENST00000448265.3_Missense_Mutation_p.E320K|UPK3B_ENST00000257632.5_Missense_Mutation_p.E320K|UPK3B_ENST00000443097.2_3'UTR			Q9BT76	UPK3B_HUMAN	uroplakin 3B	320					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GGGGCGCTGGGAGTGAGTGCA	0.687000													4	8					0	0	0.009096	0	0
BCL11A	53335	broad.mit.edu	37	2	60773247	60773247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:60773247C>T	ENST00000335712.6	-	2	471	c.244G>A	c.(244-246)Gat>Aat	p.D82N	BCL11A_ENST00000358510.4_Missense_Mutation_p.D82N|BCL11A_ENST00000538214.1_Missense_Mutation_p.D82N|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000359629.5_Missense_Mutation_p.D82N|BCL11A_ENST00000356842.4_Missense_Mutation_p.D82N	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	82	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGTGGCTTATCCACAGCTTTT	0.478000			T	IGH@	B-CLL								76	118					0	0	0.014410	0	0
TRPV6	55503	broad.mit.edu	37	7	142569731	142569731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:142569731C>T	ENST00000359396.3	-	15	2152	c.1907G>A	c.(1906-1908)aGg>aAg	p.R636K		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	636					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GAGATCTTGCCTGTCTTCCAC	0.547000													20	66					0	0	0.012319	0	0
SLC34A2	10568	broad.mit.edu	37	4	25669592	25669592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:25669592G>A	ENST00000382051.3	+	6	664	c.614G>A	c.(613-615)gGa>gAa	p.G205E	SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000504570.1_Missense_Mutation_p.G204E|SLC34A2_ENST00000503434.1_Missense_Mutation_p.G204E	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	205					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				ATGCAGGTGGGAGATCGGAGT	0.507000			T	ROS1	NSCLC								12	32					0	0	0.001855	0	0
NXF3	56000	broad.mit.edu	37	X	102333542	102333542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:102333542C>T	ENST00000395065.3	-	17	1498	c.1397G>A	c.(1396-1398)gGt>gAt	p.G466D	NXF3_ENST00000425644.1_Missense_Mutation_p.G138D|NXF3_ENST00000497850.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	466	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GAGAACAGAACCCTGAGACTG	0.537000													77	163					0	0	0.014410	0	0
IDH3G	3421	broad.mit.edu	37	X	153053350	153053350	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:153053350G>A	ENST00000370092.3	-	7	653	c.468C>T	c.(466-468)acC>acT	p.T156T	IDH3G_ENST00000370093.1_Silent_p.T156T|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000427365.2_Silent_p.T98T|IDH3G_ENST00000217901.5_Silent_p.T156T	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	156					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CCTTGTGCCGGGTCACCACGC	0.612000													39	73					0	0	0.008740	0	0
UAP1	6675	broad.mit.edu	37	1	162567609	162567609	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:162567609C>T	ENST00000271469.3	+	10	1739	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	UAP1_ENST00000367926.4_Silent_p.I462I|UAP1_ENST00000367925.1_Silent_p.I479I|UAP1_ENST00000367924.1_Silent_p.I478I|UAP1_ENST00000486089.1_3'UTR			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	479					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ATGTACCAATCCAATGTGAAA	0.343000													38	90					0	0	0.009718	0	0
MGAT4C	25834	broad.mit.edu	37	12	86377316	86377316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:86377316G>A	ENST00000604798.1	-	7	1484	c.280C>T	c.(280-282)Cct>Tct	p.P94S	MGAT4C_ENST00000332156.1_Missense_Mutation_p.P94S|MGAT4C_ENST00000549405.2_Missense_Mutation_p.P94S|MGAT4C_ENST00000552435.2_Missense_Mutation_p.P94S|MGAT4C_ENST00000548651.1_Missense_Mutation_p.P94S|MGAT4C_ENST00000393205.2_Missense_Mutation_p.P123S|MGAT4C_ENST00000552808.2_Missense_Mutation_p.P94S			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	94					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTTTGTAAAGGTGTGGCAGCT	0.313000													47	98					0	0	0.014410	0	0
TMEM164	84187	broad.mit.edu	37	X	109414666	109414666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:109414666C>T	ENST00000372073.1	+	6	941	c.605C>T	c.(604-606)cCc>cTc	p.P202L	TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000372068.2_Missense_Mutation_p.P202L|TMEM164_ENST00000288381.4_Missense_Mutation_p.P163L|TMEM164_ENST00000372072.3_Missense_Mutation_p.P53L			Q5U3C3	TM164_HUMAN	transmembrane protein 164	202						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						ACTCCAGAGCCCCTCAGCAGT	0.522000													165	301					0	0	0.014410	0	0
DSP	1832	broad.mit.edu	37	6	7569544	7569544	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:7569544G>A	ENST00000379802.3	+	12	1886	c.1545G>A	c.(1543-1545)ccG>ccA	p.P515P	DSP_ENST00000418664.2_Silent_p.P515P	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	515	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCCCTCCTCCGAACCCACTGG	0.577000													71	62					0	0	0.014410	0	0
KRT10	3858	broad.mit.edu	37	17	38975091	38975091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:38975091G>A	ENST00000269576.5	-	7	1705	c.1696C>T	c.(1696-1698)Cac>Tac	p.H566Y		NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	566	Gly-rich.|Ser-rich.|Tail.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				GAGGACTTGTGGCCTCCGCTG	0.657000													8	18					0	0	0.008291	0	0
SNHG1	23642	broad.mit.edu	37	11	62620423	62620423	+	RNA	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:62620423C>T	ENST00000384756.1	-	0	84					NR_000008.2																						TTCCTCTTCTCCCCCAGCCAG	0.423000													38	82					0	0	0.007835	0	0
CXXC5	51523	broad.mit.edu	37	5	139061000	139061000	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:139061000G>A	ENST00000302517.3	+	2	1606	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	CXXC5_ENST00000511048.1_Missense_Mutation_p.E298K|CXXC5_ENST00000515038.1_3'UTR	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	298					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAATGTGAGGAACTCAAAAA	0.557000													65	114					0	0	0.014410	0	0
KCNIP1	30820	broad.mit.edu	37	5	170159873	170159873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:170159873G>A	ENST00000328939.4	+	6	1042	c.505G>A	c.(505-507)Gac>Aac	p.D169N	KCNIP1_ENST00000434108.1_Missense_Mutation_p.D194N|KCNIP1_ENST00000377360.4_Missense_Mutation_p.D178N|KCNIP1_ENST00000390656.4_Missense_Mutation_p.D169N|KCNIP1_ENST00000520740.1_Missense_Mutation_p.D141N|KCNIP1_ENST00000411494.1_Missense_Mutation_p.D180N	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	180					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTCAAAGAGGACACTCCAAG	0.498000													25	65					0	0	0.007291	0	0
OR2M5	127059	broad.mit.edu	37	1	248308615	248308615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:248308615C>T	ENST00000366476.1	+	1	166	c.166C>T	c.(166-168)Cac>Tac	p.H56Y		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CACCCAGCTCCACACCCCCAT	0.527000													125	267					0	0	0.014410	0	0
IL13RA1	3597	broad.mit.edu	37	X	117880926	117880926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:117880926C>T	ENST00000371666.3	+	3	305	c.238C>T	c.(238-240)Ccg>Tcg	p.P80S	IL13RA1_ENST00000371642.1_Missense_Mutation_p.P80S	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	80						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						GAAAATAGCTCCGGAAACTCG	0.393000													32	94					0	0	0.012213	0	0
CHRM3	1131	broad.mit.edu	37	1	240071997	240071997	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:240071997G>C	ENST00000255380.4	+	5	2025	c.1246G>C	c.(1246-1248)Gat>Cat	p.D416H		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	416					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GAGCGTGGACGATGGAGGCAG	0.557000													11	12					0	0	0.010729	0	0
SGK223	157285	broad.mit.edu	37	8	8185691	8185691	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:8185691C>T	ENST00000520004.1	-	5	2865	c.2601G>A	c.(2599-2601)ggG>ggA	p.G867G	SGK223_ENST00000330777.4_Silent_p.G867G			Q86YV5	SG223_HUMAN		867							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGTGGCGGTTCCCGGGGCTCA	0.592000													88	230					0	0	0.014410	0	0
PARD6G	84552	broad.mit.edu	37	18	77918292	77918292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:77918292C>T	ENST00000353265.3	-	3	690	c.493G>A	c.(493-495)Ggc>Agc	p.G165S	AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000585422.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	165	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		TTCTCGCAGCCGTGCCGGTGC	0.687000													7	10					0	0	0.003080	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716663	153716663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:153716663G>A	ENST00000263512.4	-	2	1115	c.617C>T	c.(616-618)tCg>tTg	p.S206L	SLC10A3_ENST00000393587.4_Missense_Mutation_p.S206L|SLC10A3_ENST00000393586.1_Missense_Mutation_p.S261L|SLC10A3_ENST00000369649.4_Missense_Mutation_p.S177L	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	206					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCACCCAAACGAACACTTGTT	0.587000													55	104					0	0	0.014410	0	0
MICAL3	57553	broad.mit.edu	37	22	18304888	18304888	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:18304888A>C	ENST00000441493.2	-	24	3708	c.3356T>G	c.(3355-3357)tTg>tGg	p.L1119W		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1119	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TGGGCACGGCAAACGCAGCTC	0.617000													26	48					0	0	0.004656	0	0
TMEM59	9528	broad.mit.edu	37	1	54512978	54512978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:54512978C>T	ENST00000234831.5	-	2	506	c.257G>A	c.(256-258)gGa>gAa	p.G86E	TMEM59_ENST00000371337.3_Missense_Mutation_p.G86E|TMEM59_ENST00000371341.1_5'UTR|TMEM59_ENST00000371348.1_5'UTR	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	86						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						TAAGTCAATTCCATCATCCAC	0.388000													27	37					0	0	0.007291	0	0
NEU4	129807	broad.mit.edu	37	2	242758271	242758271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:242758271C>T	ENST00000391969.2	+	5	2063	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F	NEU4_ENST00000325935.6_Missense_Mutation_p.S464F|NEU4_ENST00000405370.1_Missense_Mutation_p.S451F|NEU4_ENST00000407683.1_Missense_Mutation_p.S451F|NEU4_ENST00000404257.1_Missense_Mutation_p.S463F	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	451						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	p.S463F(1)		breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GATGAGATTTCCTTTTGTACA	0.652000													11	7					0	0	0.008291	0	0
TOR3A	64222	broad.mit.edu	37	1	179052082	179052082	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:179052082C>T	ENST00000367627.3	+	2	1019	c.267C>T	c.(265-267)cgC>cgT	p.R89R	TOR3A_ENST00000352445.6_Silent_p.R89R	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	89					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						CAGGCTGGCGCCTTCCTCTGT	0.577000													5	9					0	0	0.000602	0	0
CRISP2	7180	broad.mit.edu	37	6	49668428	49668428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:49668428C>T	ENST00000339139.4	-	5	372	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	46						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTCCTTAGTTCATTGTGTTTA	0.413000													61	37					0	0	0.014410	0	0
GFRA3	2676	broad.mit.edu	37	5	137600188	137600188	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:137600188G>A	ENST00000274721.3	-	2	387	c.141C>T	c.(139-141)gcC>gcT	p.A47A	GFRA3_ENST00000378362.3_Silent_p.A47A	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	47					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACTTCCTCCTGGCCTGGAGAC	0.562000													19	34					0	0	0.014323	0	0
TP53BP1	7158	broad.mit.edu	37	15	43713259	43713259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:43713259C>T	ENST00000263801.3	-	20	4451	c.4199G>A	c.(4198-4200)cGa>cAa	p.R1400Q	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1405Q|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1405Q|TP53BP1_ENST00000382039.3_Intron	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1400					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GCGGCCCCTTCGCCCACGCCC	0.582000								Other conserved DNA damage response genes					49	95					0	0	0.014410	0	0
IL17RD	54756	broad.mit.edu	37	3	57132039	57132039	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:57132039G>A	ENST00000296318.7	-	12	1780	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	IL17RD_ENST00000463523.1_Silent_p.F420F|IL17RD_ENST00000427856.2_Silent_p.F540F|IL17RD_ENST00000320057.5_Silent_p.F420F	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	564						Golgi membrane|integral to membrane|plasma membrane	receptor activity	p.F420F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GGAAGGGAACGAACTGCTTTT	0.527000													16	22					0	0	0.004990	0	0
KIF19	124602	broad.mit.edu	37	17	72351339	72351339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:72351339C>T	ENST00000389916.4	+	20	3023	c.2885C>T	c.(2884-2886)cCc>cTc	p.P962L		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	962					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GACTCCTCACCCCTGGCTGTT	0.647000													23	45					0	0	0.003330	0	0
SYNE2	23224	broad.mit.edu	37	14	64484368	64484368	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:64484368G>A	ENST00000358025.3	+	34	5173	c.4943G>A	c.(4942-4944)tGg>tAg	p.W1648*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.W1648*|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.W1648*|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1648					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTAGCTTTGTGGGACAAACTT	0.338000													56	114					0	0	0.014410	0	0
FAM46D	169966	broad.mit.edu	37	X	79698072	79698072	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:79698072G>A	ENST00000538312.1	+	5	368	c.34G>A	c.(34-36)Gat>Aat	p.D12N	FAM46D_ENST00000308293.5_Missense_Mutation_p.D12N	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	12										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TCTCACTTGGGATCAAGTTAT	0.363000													11	24					0	0	0.008291	0	0
BAG6	7917	broad.mit.edu	37	6	31607321	31607321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:31607321G>A	ENST00000404765.2	-	25	3638	c.3349C>T	c.(3349-3351)Cgg>Tgg	p.R1117W	BAG6_ENST00000439687.2_Intron|BAG6_ENST00000375976.4_Missense_Mutation_p.R1081W|BAG6_ENST00000362049.6_Intron|BAG6_ENST00000211379.5_Missense_Mutation_p.R1081W|BAG6_ENST00000375964.6_Missense_Mutation_p.R1087W			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	1087					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TCCAGGTCCCGGCTCAGGCTC	0.657000													119	81					0	0	0.014410	0	0
ZNF439	90594	broad.mit.edu	37	19	11978880	11978880	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:11978880G>A	ENST00000304030.2	+	3	1196	c.996G>A	c.(994-996)ggG>ggA	p.G332G	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Silent_p.G196G	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						AGCAGTGTGGGAAAGCATTAT	0.383000													56	90					0	0	0.014410	0	0
XAGE3	170626	broad.mit.edu	37	X	52896107	52896107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:52896107G>A	ENST00000346279.3	-	2	128	c.58C>T	c.(58-60)Cct>Tct	p.P20S	XAGE3_ENST00000375491.3_Missense_Mutation_p.P20S	NM_133179.2	NP_573440.1	Q8WTP9	GAGD4_HUMAN	X antigen family, member 3	20								p.P20T(1)		kidney(1)|large_intestine(1)|lung(2)	4						ATCAGCTCAGGAGGTGGTACA	0.403000													52	92					0	0	0.014410	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420542	56420542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:56420542C>T	ENST00000407595.2	+	2	1709	c.1207C>T	c.(1207-1209)Ccc>Tcc	p.P403S	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	403										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGACGGGTCACCCCATCACCG	0.607000													6	9					0	0	0.001168	0	0
KANK4	163782	broad.mit.edu	37	1	62740442	62740442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:62740442G>A	ENST00000371153.4	-	3	712	c.334C>T	c.(334-336)Ctt>Ttt	p.L112F	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	112										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCATTACCAAGCGGTGGTGAC	0.627000													14	52					0	0	0.003954	0	0
PHACTR1	221692	broad.mit.edu	37	6	13053619	13053619	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:13053619G>A	ENST00000379350.1	+	4	402	c.273G>A	c.(271-273)gcG>gcA	p.A91A	PHACTR1_ENST00000482982.1_3'UTR|PHACTR1_ENST00000457702.2_5'UTR|PHACTR1_ENST00000379345.2_5'UTR|PHACTR1_ENST00000332995.7_Silent_p.A91A			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	91						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AGAGGCTGGCGGCGATGCGTT	0.498000													47	50					0	0	0.013114	0	0
NHSL2	340527	broad.mit.edu	37	X	71360568	71360568	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:71360568A>T	ENST00000373677.1	+	2	3334	c.2072A>T	c.(2071-2073)cAa>cTa	p.Q691L	NHSL2_ENST00000540800.1_Missense_Mutation_p.Q1057L|NHSL2_ENST00000535692.1_Missense_Mutation_p.Q691L|NHSL2_ENST00000510661.1_Missense_Mutation_p.Q826L			F5H593	F5H593_HUMAN	NHS-like 2	1057										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCACTTGGTCAAAGGGTGACT	0.552000													24	29					0	0	0.003954	0	0
BARX2	8538	broad.mit.edu	37	11	129306807	129306807	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:129306807G>C	ENST00000281437.4	+	2	445	c.349G>C	c.(349-351)Gcc>Ccc	p.A117P	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	117										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CGAGGCCCTAGCCAGCAGCGA	0.687000													13	19					0	0	0.013537	0	0
DPCR1	135656	broad.mit.edu	37	6	30919831	30919831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:30919831C>T	ENST00000462446.1	+	2	3618	c.3590C>T	c.(3589-3591)aCc>aTc	p.T1197I	DPCR1_ENST00000304311.2_Missense_Mutation_p.T39I|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	321						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						ACCATATGCACCAAAGGGAAA	0.473000													58	54					0	0	0.014410	0	0
CLEC4F	165530	broad.mit.edu	37	2	71044000	71044000	+	Silent	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:71044000A>G	ENST00000272367.2	-	4	589	c.513T>C	c.(511-513)agT>agC	p.S171S	CLEC4F_ENST00000426626.1_Silent_p.S171S	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	171					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CCTCCAGGGAACTCCTTAACA	0.443000													28	54					0	0	0.008361	0	0
DGCR14	8220	broad.mit.edu	37	22	19124869	19124869	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:19124869G>A	ENST00000252137.6	-	8	1045	c.1002C>T	c.(1000-1002)ccC>ccT	p.P334P		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	334					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TGTCCACGTAGGGCGTTTCCG	0.592000													70	137					0	0	0.014410	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4455542	4455542	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:4455542G>A	ENST00000254718.4	-	7	1089	c.783C>T	c.(781-783)gaC>gaT	p.D261D	MYBBP1A_ENST00000381556.2_Silent_p.D261D			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	261	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GCAGCTTGCGGTCCTTCTTCA	0.612000													20	39					0	0	0.008871	0	0
NYAP1	222950	broad.mit.edu	37	7	100086303	100086303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:100086303C>T	ENST00000423930.1	+	4	1118	c.959C>T	c.(958-960)cCt>cTt	p.P320L	NYAP1_ENST00000300179.2_Missense_Mutation_p.P320L|NYAP1_ENST00000454988.1_Missense_Mutation_p.P263L			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	320	Pro-rich.																AAGACCACTCCTTGTGAAATC	0.692000													40	86					0	0	0.005524	0	0
HOXB1	3211	broad.mit.edu	37	17	46607721	46607721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:46607721C>T	ENST00000239174.6	-	1	638	c.546G>A	c.(544-546)tgG>tgA	p.W182*	HOXB1_ENST00000577092.1_Nonsense_Mutation_p.W182*	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	182						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAACCTTCATCCAGTCGAAGG	0.592000													8	25					0	0	0.006214	0	0
FGF11	2256	broad.mit.edu	37	17	7345943	7345943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:7345943G>A	ENST00000575331.1	+	3	2211	c.67G>A	c.(67-69)Gag>Aag	p.E23K	RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575235.1_Missense_Mutation_p.E23K|FGF11_ENST00000575398.1_Missense_Mutation_p.E23K|FGF11_ENST00000575082.1_Missense_Mutation_p.E23K|FGF11_ENST00000572907.1_Missense_Mutation_p.E23K|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000293829.4_Missense_Mutation_p.E147K			Q92914	FGF11_HUMAN	fibroblast growth factor 11	147					cell-cell signaling|nervous system development|signal transduction		growth factor activity			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				TCGCTTTAAGGAGTGTGTCTT	0.537000													72	149					0	0	0.014410	0	0
ZNF718	255403	broad.mit.edu	37	4	155870	155870	+	RNA	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:155870C>T	ENST00000510175.1	+	0	1305							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AGTACTCCAACCTTCCTCAAC	0.348000													8	14					0	0	0.003080	0	0
EMID1	129080	broad.mit.edu	37	22	29628340	29628340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:29628340C>T	ENST00000334018.6	+	8	960	c.772C>T	c.(772-774)Cct>Tct	p.P258S	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Missense_Mutation_p.P258S|EMID1_ENST00000404820.3_Missense_Mutation_p.P258S	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	256	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TCCTGGCCCCCCTGGGCCCCC	0.731000													13	12					0	0	0.013537	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40850783	40850783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:40850783C>T	ENST00000264638.4	+	24	4227	c.4010C>T	c.(4009-4011)tCa>tTa	p.S1337L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1337					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTACCCACTTCAGGCCCTGCC	0.632000													22	37					0	0	0.003330	0	0
MFSD6	54842	broad.mit.edu	37	2	191302198	191302198	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:191302198C>T	ENST00000392328.1	+	3	1767	c.1443C>T	c.(1441-1443)ctC>ctT	p.L481L	MFSD6_ENST00000281416.7_Silent_p.L481L	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	481					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CTACAACCCTCTTTGGGGTCT	0.448000													72	56					0	0	0.014410	0	0
ZBTB33	10009	broad.mit.edu	37	X	119389153	119389153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:119389153G>A	ENST00000326624.2	+	2	2111	c.1883G>A	c.(1882-1884)gGg>gAg	p.G628E	ZBTB33_ENST00000557385.1_Missense_Mutation_p.G628E	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	628	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCTCCAGTAGGGACCACTACA	0.378000													56	88					0	0	0.014410	0	0
HSD17B10	3028	broad.mit.edu	37	X	53460832	53460832	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:53460832C>T	ENST00000168216.6	-	2	56	c.27_splice	c.e2-1	p.G10_splice	HSD17B10_ENST00000375298.4_Splice_Site_p.G10_splice|HSD17B10_ENST00000375304.5_Splice_Site_p.G10_splice|HSD17B10_ENST00000495986.1_5'UTR	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	10					branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing	mitochondrial matrix|plasma membrane	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8					NADH(DB00157)	CGCCACCAGGCCCTGTCAAAA	0.647000													17	24					0	0	0.007413	0	0
RCAN3	11123	broad.mit.edu	37	1	24840953	24840953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:24840953G>A	ENST00000374395.4	+	2	404	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	RCAN3_ENST00000412742.2_Missense_Mutation_p.E31K|RCAN3_ENST00000538532.1_Missense_Mutation_p.E31K|RCAN3_ENST00000374393.2_Missense_Mutation_p.E31K|RCAN3_ENST00000436717.2_Missense_Mutation_p.E31K	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	31					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		GATTTTTGGTGAAAATGAAGA	0.433000													32	60					0	0	0.003271	0	0
TESC	54997	broad.mit.edu	37	12	117494655	117494655	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:117494655G>A	ENST00000335209.7	-	3	351	c.165C>T	c.(163-165)ctC>ctT	p.L55L	TESC_ENST00000541210.1_Intron|TESC_ENST00000392545.4_Silent_p.L108L			Q96BS2	TESC_HUMAN	tescalcin	55					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		GGATGGGGTTGAGCTCCAGGT	0.517000													47	46					0	0	0.014410	0	0
SUCO	51430	broad.mit.edu	37	1	172501872	172501872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:172501872G>A	ENST00000367723.3	+	1	384	c.260G>A	c.(259-261)cGa>cAa	p.R87Q		NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		AGAGAAAAACGAATTCTGGAA	0.517000													15	28					0	0	0.003163	0	0
DCDC1	341019	broad.mit.edu	37	11	30902705	30902705	+	Splice_Site	SNP	C	C	T	rs141805823		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:30902705C>T	ENST00000597505.1	-	35	5223	c.5224_splice	c.e35+1	p.E1742_splice				P59894	DCDC1_HUMAN	doublecortin domain containing 1	249					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCATGCATACCTTTTGGGGTT	0.398000													16	17					0	0	0.004007	0	0
IRAK3	11213	broad.mit.edu	37	12	66638963	66638963	+	Missense_Mutation	SNP	G	G	A	rs146885838		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:66638963G>A	ENST00000261233.4	+	11	1656	c.1235G>A	c.(1234-1236)cGg>cAg	p.R412Q	IRAK3_ENST00000457197.2_Missense_Mutation_p.R351Q	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	412	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	p.R412Q(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CCCTGCCCTCGGAATTTCTCT	0.478000													49	81					0	0	0.014410	0	0
LPPR3	79948	broad.mit.edu	37	19	815758	815758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:815758G>A	ENST00000359894.2	-	3	232	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	LPPR3_ENST00000520876.3_Missense_Mutation_p.R57C	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		57						integral to membrane	phosphatidate phosphatase activity										GAGAGAGTGCGGTCATAGCAC	0.617000													12	15					0	0	0.013537	0	0
DDX3X	1654	broad.mit.edu	37	X	41205589	41205589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:41205589C>T	ENST00000399959.2	+	13	2278	c.1423C>T	c.(1423-1425)Cgt>Tgt	p.R475C	DDX3X_ENST00000457138.2_Missense_Mutation_p.R459C|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	475	Helicase C-terminal.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	p.R475C(2)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CCATGGAGACCGTTCTCAGAG	0.438000										HNSCC(61;0.18)			31	70					0	0	0.009535	0	0
CACNA1D	776	broad.mit.edu	37	3	53699766	53699766	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:53699766C>T	ENST00000288139.3	+	6	964	c.846C>T	c.(844-846)atC>atT	p.I282I	CACNA1D_ENST00000350061.5_Silent_p.I282I|CACNA1D_ENST00000422281.2_Silent_p.I282I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	282					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TATTTGTAATCATAATCTATG	0.328000													41	69					0	0	0.007835	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717325	2717325	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:2717325G>A	ENST00000323469.4	-	2	663	c.480C>T	c.(478-480)ctC>ctT	p.L160L	DIRAS1_ENST00000585334.1_Silent_p.L160L	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	160					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCTGGAAGAGCTCCTTGA	0.632000													33	68					0	0	0.005524	0	0
GBP5	115362	broad.mit.edu	37	1	89732745	89732745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:89732745G>A	ENST00000343435.5	-	6	1056	c.520C>T	c.(520-522)Cca>Tca	p.P174S	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.P174S	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	174						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ACTAAGTCTGGGAAGAAGCTC	0.488000													48	99					0	0	0.014410	0	0
SLC24A4	123041	broad.mit.edu	37	14	92953117	92953117	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:92953117G>A	ENST00000532405.1	+	14	1756	c.1530G>A	c.(1528-1530)gcG>gcA	p.A510A	SLC24A4_ENST00000351924.5_Silent_p.A474A|SLC24A4_ENST00000393265.2_Silent_p.A446A|SLC24A4_ENST00000531433.1_Silent_p.A491A|SLC24A4_ENST00000298877.1_Silent_p.A493A			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	510						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TAATTGTGGCGAGACAAGGTA	0.527000													10	21					0	0	0.006214	0	0
FAF1	11124	broad.mit.edu	37	1	51425473	51425473	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:51425473T>C	ENST00000396153.2	-	1	462	c.11A>G	c.(10-12)aAc>aGc	p.N4S	FAF1_ENST00000371778.4_Missense_Mutation_p.N4S	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	4					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(10)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CCGGTCCATGTTGGACGCCAT	0.677000													14	30					0	0	0.006122	0	0
ATP10A	57194	broad.mit.edu	37	15	25959073	25959073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:25959073G>A	ENST00000356865.6	-	10	2203	c.2092C>T	c.(2092-2094)Ccg>Tcg	p.P698S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	698					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCTCATCCGGGCTCTCCGCC	0.662000													24	37					0	0	0.003330	0	0
NUFIP2	57532	broad.mit.edu	37	17	27613294	27613294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:27613294G>A	ENST00000225388.4	-	2	1776	c.1718C>T	c.(1717-1719)cCt>cTt	p.P573L	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	573						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CAGAACTTGAGGACTAGTCCG	0.478000													36	55					0	0	0.004289	0	0
PIDD	55367	broad.mit.edu	37	11	803340	803340	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:803340G>A	ENST00000347755.5	-	3	684	c.543C>T	c.(541-543)aaC>aaT	p.N181N	PIDD_ENST00000411829.2_Silent_p.N181N	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	181					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										TCTGCAGGCGGTTGTGTGTCA	0.637000													35	47					0	0	0.005524	0	0
DPYS	1807	broad.mit.edu	37	8	105440329	105440329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:105440329C>T	ENST00000351513.2	-	6	1103	c.971G>A	c.(970-972)gGg>gAg	p.G324E		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	324					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTTATCAGTCCCTGTTGTGGT	0.433000													38	72					0	0	0.007835	0	0
CAPN6	827	broad.mit.edu	37	X	110497615	110497615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:110497615G>A	ENST00000324068.1	-	3	349	c.182C>T	c.(181-183)cCc>cTc	p.P61L	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	61	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AATCAGATGGGGGTCATCACA	0.478000													54	82					0	0	0.014410	0	0
CD1E	913	broad.mit.edu	37	1	158324289	158324289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:158324289G>A	ENST00000368160.3	+	2	181	c.181G>A	c.(181-183)Gac>Aac	p.D61N	CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.D61N|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368155.3_Missense_Mutation_p.D61N|CD1E_ENST00000368156.1_Missense_Mutation_p.D61N|CD1E_ENST00000368167.3_Missense_Mutation_p.D61N|CD1E_ENST00000368163.3_Missense_Mutation_p.D61N|CD1E_ENST00000368165.3_Missense_Mutation_p.D61N|CD1E_ENST00000434258.1_Missense_Mutation_p.D59N	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	61					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ATGGCTGGGTGACCTGCAGAC	0.557000													34	50					0	0	0.003755	0	0
IGKV2-24	28923	broad.mit.edu	37	2	89475818	89475818	+	RNA	SNP	T	T	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:89475818T>A	ENST00000484817.1	-	0	383																											TGTGAGGAAATTGTGTAGCTT	0.502000													50	39					0	0	0.014410	0	0
LMNB2	84823	broad.mit.edu	37	19	2434473	2434473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:2434473G>A	ENST00000325327.3	-	7	1084	c.1022C>T	c.(1021-1023)gCc>gTc	p.A341V	LMNB2_ENST00000582871.1_Missense_Mutation_p.A321V			Q03252	LMNB2_HUMAN	lamin B2	321	Coil 2.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGGCCATGGCCTCCTCCAG	0.662000													31	43					0	0	0.013726	0	0
COL4A1	1282	broad.mit.edu	37	13	110827604	110827604	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:110827604G>A	ENST00000375820.4	-	37	3280	c.3159C>T	c.(3157-3159)ggC>ggT	p.G1053G		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1053	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGCCAGGTGGGCCTGCCTGCC	0.592000													35	88					0	0	0.007835	0	0
LIMCH1	22998	broad.mit.edu	37	4	41683002	41683002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:41683002C>T	ENST00000313860.7	+	20	2545	c.2491C>T	c.(2491-2493)Cca>Tca	p.P831S	LIMCH1_ENST00000503057.1_Missense_Mutation_p.P1215S|LIMCH1_ENST00000381753.4_Missense_Mutation_p.P664S|LIMCH1_ENST00000512946.1_Missense_Mutation_p.P831S|LIMCH1_ENST00000511496.1_Missense_Mutation_p.P671S|LIMCH1_ENST00000509277.1_Missense_Mutation_p.P664S|LIMCH1_ENST00000514096.1_Missense_Mutation_p.P671S|LIMCH1_ENST00000512820.1_Missense_Mutation_p.P843S|LIMCH1_ENST00000513024.1_Missense_Mutation_p.P684S|LIMCH1_ENST00000512632.1_Missense_Mutation_p.P754S|LIMCH1_ENST00000508501.1_Missense_Mutation_p.P830S|LIMCH1_ENST00000396595.3_Missense_Mutation_p.P676S	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	831					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CACTGTGGTTCCATTTACTGT	0.418000													39	78					0	0	0.009718	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155931579	155931579	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:155931579G>T	ENST00000368316.1	-	15	1727	c.1257C>A	c.(1255-1257)aaC>aaA	p.N419K	ARHGEF2_ENST00000361247.4_Missense_Mutation_p.N447K|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.N419K|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.N446K|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.N448K			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	447	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGTCCATGCGGTTGTAGATCT	0.597000													19	43					4.35082e-09	4.45171e-09	0.010504	1	0
EVPL	2125	broad.mit.edu	37	17	74005391	74005391	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:74005391C>T	ENST00000301607.3	-	22	4148	c.3895G>A	c.(3895-3897)Gac>Aac	p.D1299N	EVPL_ENST00000586740.1_Missense_Mutation_p.D1321N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1299	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCCACTCGTCGCGCTCACCC	0.662000													64	128					0	0	0.014410	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262387	140262387	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140262387C>T	ENST00000289272.2	+	1	534	c.534C>T	c.(532-534)ttC>ttT	p.F178F	PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.F178F|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGATTATTTCACTTTGGACG	0.433000													30	83					0	0	0.010818	0	0
TSHR	7253	broad.mit.edu	37	14	81609961	81609961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:81609961G>A	ENST00000541158.2	+	11	1881	c.1559G>A	c.(1558-1560)tGg>tAg	p.W520*	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Nonsense_Mutation_p.W520*			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	520					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CTGGAGCGCTGGTATGCCATC	0.597000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						21	33					0	0	0.012319	0	0
OR52E2	119678	broad.mit.edu	37	11	5080030	5080030	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:5080030G>A	ENST00000321522.2	-	1	827	c.828C>T	c.(826-828)ctC>ctT	p.L276L		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GATTGGCTAGGAGTATATGGA	0.423000													34	67					0	0	0.005524	0	0
TTN	7273	broad.mit.edu	37	2	179475812	179475812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:179475812G>A	ENST00000589042.1	-	270	51268	c.51044C>T	c.(51043-51045)cCc>cTc	p.P17015L	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P8075L|TTN_ENST00000342175.6_Missense_Mutation_p.P8142L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P15374L|TTN_ENST00000342992.6_Missense_Mutation_p.P14447L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P7950L|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15374	Fibronectin type-III 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACACTCTTGGGAACTTCAAG	0.413000													36	33					0	0	0.003271	0	0
MAP3K12	7786	broad.mit.edu	37	12	53880315	53880315	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:53880315C>T	ENST00000267079.2	-	4	663	c.438G>A	c.(436-438)ggG>ggA	p.G146G	MAP3K12_ENST00000547488.1_Silent_p.G179G|MAP3K12_ENST00000547035.1_Silent_p.G179G|MAP3K12_ENST00000547151.1_5'UTR	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	146	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCACCTCCTCCCCGTGGAAGC	0.582000													20	33					0	0	0.008871	0	0
EPPK1	83481	broad.mit.edu	37	8	144942031	144942031	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:144942031C>T	ENST00000525985.1	-	2	5462	c.5391G>A	c.(5389-5391)tgG>tgA	p.W1797*				P58107	EPIPL_HUMAN	epiplakin 1	1797						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGCAGGTCCCAGAAAGAGA	0.532000													24	54					0	0	0.003330	0	0
SPTA1	6708	broad.mit.edu	37	1	158653284	158653284	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:158653284C>T	ENST00000368148.3	-	3	447	c.267G>A	c.(265-267)ggG>ggA	p.G89G	SPTA1_ENST00000368147.3_Silent_p.G89G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	89					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTGATATTTCCCCTAAAGTT	0.398000													32	51					0	0	0.010818	0	0
TMEM72	643236	broad.mit.edu	37	10	45430427	45430427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:45430427G>A	ENST00000544540.1	+	4	803	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	225						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						GGTGCACTTTGAAGACAACTT	0.607000													49	39					0	0	0.014410	0	0
COL1A2	1278	broad.mit.edu	37	7	94040251	94040251	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:94040251C>T	ENST00000297268.6	+	22	1719	c.1248C>T	c.(1246-1248)gtC>gtT	p.V416V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	416					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GAGCTGGCGTCATGGTAAGCT	0.458000										HNSCC(75;0.22)			58	82					0	0	0.014410	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29480920	29480920	+	Silent	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:29480920A>G	ENST00000283351.4	-	10	1793	c.1458T>C	c.(1456-1458)gaT>gaC	p.D486D	TRAPPC8_ENST00000582513.1_Silent_p.D486D|TRAPPC8_ENST00000582539.1_Silent_p.D432D	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	486					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAATTGCTGTATCCATGTAAT	0.338000													27	52					0	0	0.008361	0	0
TLN2	83660	broad.mit.edu	37	15	63040586	63040586	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:63040586G>A	ENST00000561311.1	+	32	4292	c.4062G>A	c.(4060-4062)ctG>ctA	p.L1354L	TLN2_ENST00000306829.6_Silent_p.L1354L			Q9Y4G6	TLN2_HUMAN	talin 2	1354					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCATCACTCTGTGTACCCAAC	0.478000													48	75					0	0	0.014410	0	0
TF	7018	broad.mit.edu	37	3	133472515	133472515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:133472515C>T	ENST00000402696.3	+	3	778	c.293C>T	c.(292-294)cCt>cTt	p.P98L	TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_5'UTR	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	98	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AACCTGAAGCCTGTGGTGGCA	0.498000													39	72					0	0	0.011902	0	0
GHR	2690	broad.mit.edu	37	5	42718182	42718182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:42718182C>T	ENST00000230882.4	+	9	1094	c.904C>T	c.(904-906)Cca>Tca	p.P302S	GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.P280S|GHR_ENST00000537449.1_Missense_Mutation_p.P115S	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	302					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCCCCCAGTTCCAGTTCCAAA	0.318000													32	69					0	0	0.008740	0	0
DPF3	8110	broad.mit.edu	37	14	73141062	73141062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:73141062C>T	ENST00000541685.1	-	8	769	c.757G>A	c.(757-759)Gat>Aat	p.D253N	DPF3_ENST00000556509.1_Missense_Mutation_p.D253N|DPF3_ENST00000546183.1_Missense_Mutation_p.D263N|DPF3_ENST00000557704.1_5'UTR	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	253					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ACTGTTCCATCCGGTCCTTTC	0.493000													6	17					0	0	0.001168	0	0
ZNF227	7770	broad.mit.edu	37	19	44739315	44739315	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:44739315C>T	ENST00000313040.7	+	6	937	c.732C>T	c.(730-732)ccC>ccT	p.P244P	ZNF227_ENST00000589005.1_Silent_p.P193P|ZNF227_ENST00000391961.2_Silent_p.P193P	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				AGAAATTACCCTTAGGAGAGA	0.428000													10	40					0	0	0.006214	0	0
CA14	23632	broad.mit.edu	37	1	150234998	150234998	+	Silent	SNP	T	T	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:150234998T>G	ENST00000369111.4	+	5	1444	c.474T>G	c.(472-474)gcT>gcG	p.A158A		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	158						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGCCTGGCTGTCCTGGGCA	0.512000													38	44					0	0	0.005524	0	0
GREB1	9687	broad.mit.edu	37	2	11733049	11733049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:11733049C>T	ENST00000381486.2	+	11	1793	c.1493C>T	c.(1492-1494)tCc>tTc	p.S498F	GREB1_ENST00000234142.5_Missense_Mutation_p.S498F	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	498						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCCGTGACCTCCGCGCAGCTG	0.731000													5	8					0	0	0.000602	0	0
CLUH	23277	broad.mit.edu	37	17	2598354	2598354	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:2598354G>A	ENST00000570628.1	-	16	2637	c.2532C>T	c.(2530-2532)ttC>ttT	p.F844F	CLUH_ENST00000575014.1_Silent_p.F777F|CLUH_ENST00000538975.1_Silent_p.F844F|CLUH_ENST00000435359.1_Silent_p.F844F					clustered mitochondria (cluA/CLU1) homolog																		AGCAGTTCAGGAAGTGGCTGA	0.637000													3	7					0	0	0.004672	0	0
ZFX	7543	broad.mit.edu	37	X	24227093	24227093	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:24227093C>T	ENST00000379177.1	+	10	1597	c.1170C>T	c.(1168-1170)ctC>ctT	p.L390L	ZFX_ENST00000338565.3_Silent_p.L340L|ZFX_ENST00000304543.5_Silent_p.L390L|ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000379188.3_Silent_p.L390L|ZFX_ENST00000540034.1_Silent_p.L429L|ZFX_ENST00000539115.1_Silent_p.L161L	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CTGCTGGCCTCGGCAGACTGG	0.468000													30	53					0	0	0.008361	0	0
IKZF1	10320	broad.mit.edu	37	7	50450404	50450404	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:50450404C>T	ENST00000331340.3	+	5	743	c.589_splice	c.e5+1	p.S196_splice	IKZF1_ENST00000440768.2_Splice_Site_p.S196_splice|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000439701.1_Splice_Site_p.S196_splice|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000357364.4_Splice_Site_p.S196_splice|IKZF1_ENST00000438033.1_Splice_Site_p.S109_splice|IKZF1_ENST00000343574.5_Splice_Site_p.S109_splice|IKZF1_ENST00000359197.5_Splice_Site_p.S196_splice	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	196					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGACGCACTCCGGTAGGTCCC	0.647000			"""D,T"""	BCL6	"""ALL, DLBCL"""								6	18					0	0	0.001168	0	0
DSCAML1	57453	broad.mit.edu	37	11	117301461	117301461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:117301461G>A	ENST00000321322.6	-	32	5844	c.5843C>T	c.(5842-5844)cCc>cTc	p.P1948L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P1678L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1888					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGAGGGATGGGCACAGCCAC	0.652000													44	76					0	0	0.014410	0	0
EXOSC7	23016	broad.mit.edu	37	3	45046817	45046817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:45046817G>A	ENST00000265564.7	+	6	574	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	EXOSC7_ENST00000461361.1_3'UTR|CLEC3B_ENST00000490386.1_Intron	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	176					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		GGATGAAGAGGGGTCGAAGGA	0.428000													34	67					0	0	0.004289	0	0
MXRA5	25878	broad.mit.edu	37	X	3235667	3235667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:3235667C>T	ENST00000217939.6	-	6	6209	c.6055G>A	c.(6055-6057)Gac>Aac	p.D2019N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2019	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACGCCTCTGTCTGAGAAGGAC	0.642000													16	28					0	0	0.003163	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202411586	202411586	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:202411586T>G	ENST00000406302.3	+	12	1706	c.1553T>G	c.(1552-1554)gTt>gGt	p.V518G	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.V518G	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	518					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAATCAGCTGTTAATCTAGTG	0.448000													31	47					0	0	0.004289	0	0
CLIC4	25932	broad.mit.edu	37	1	25124273	25124273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:25124273C>T	ENST00000374379.4	+	2	310	c.113C>T	c.(112-114)tCc>tTc	p.S38F	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	38	Required for insertion into the membrane (Probable).				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		TGCCCCTTTTCCCAGAGGCTC	0.408000													26	52					0	0	0.010818	0	0
TBC1D9	23158	broad.mit.edu	37	4	141590809	141590809	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:141590809G>A	ENST00000442267.2	-	8	1490	c.1416C>T	c.(1414-1416)ccC>ccT	p.P472P		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	472						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGAACTCCTCGGGAGACCGCC	0.473000													15	19					0	0	0.002450	0	0
SETBP1	26040	broad.mit.edu	37	18	42530992	42530992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:42530992C>T	ENST00000282030.5	+	4	1983	c.1687C>T	c.(1687-1689)Ccc>Tcc	p.P563S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	563						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTCTGCATATCCCATCACCCC	0.522000									Schinzel-Giedion syndrome				58	147					0	0	0.014410	0	0
KEL	3792	broad.mit.edu	37	7	142658060	142658060	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:142658060G>A	ENST00000355265.2	-	4	829	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	119					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCAAGCTCCTGAAAAGAATTA	0.517000													123	118					0	0	0.014410	0	0
C10orf111	221060	broad.mit.edu	37	10	15138497	15138497	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:15138497C>T	ENST00000378207.3	-	2	600	c.327G>A	c.(325-327)caG>caA	p.Q109Q		NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	109						integral to membrane				lung(5)|upper_aerodigestive_tract(1)	6						CAGAAGCAACCTGCCGTCTTC	0.498000													31	40					0	0	0.008361	0	0
STK40	83931	broad.mit.edu	37	1	36821032	36821032	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:36821032G>A	ENST00000359297.2	-	4	352	c.345C>T	c.(343-345)gaC>gaT	p.D115D	STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373129.3_Silent_p.D115D|STK40_ENST00000373130.3_Silent_p.D120D|STK40_ENST00000373132.3_Silent_p.D115D			Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	115	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				CACAGGTGCGGTCCTGGGAGG	0.587000													46	87					0	0	0.011902	0	0
SLC17A8	246213	broad.mit.edu	37	12	100787155	100787155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:100787155G>A	ENST00000323346.5	+	4	795	c.482G>A	c.(481-483)gGa>gAa	p.G161E	SLC17A8_ENST00000392989.3_Missense_Mutation_p.G161E	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	161					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AGGGTCTTTGGAGCTGCCATC	0.463000													23	47					0	0	0.002780	0	0
TDRD6	221400	broad.mit.edu	37	6	46656539	46656539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:46656539C>T	ENST00000544460.1	+	1	928	c.674C>T	c.(673-675)cCg>cTg	p.P225L	TDRD6_ENST00000316081.6_Missense_Mutation_p.P225L	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	225					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCCGGGGTCCCGGTTCTCTCG	0.657000													38	27					0	0	0.004878	0	0
LLGL2	3993	broad.mit.edu	37	17	73566141	73566141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:73566141G>A	ENST00000392550.3	+	15	1796	c.1679G>A	c.(1678-1680)gGg>gAg	p.G560E	LLGL2_ENST00000167462.5_Missense_Mutation_p.G560E|LLGL2_ENST00000577200.1_Missense_Mutation_p.G560E	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	560					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGCTGGAAGGGGCACGAGCGC	0.667000													9	12					0	0	0.004482	0	0
CAPN9	10753	broad.mit.edu	37	1	230928633	230928633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:230928633C>T	ENST00000354537.1	+	16	1833	c.1751C>T	c.(1750-1752)aCc>aTc	p.T584I	CAPN9_ENST00000480004.1_3'UTR|CAPN9_ENST00000366666.2_Missense_Mutation_p.T547I|CAPN9_ENST00000271971.2_Missense_Mutation_p.T610I|RP11-99J16__A.2_ENST00000412344.1_RNA|RP11-99J16__A.2_ENST00000452640.1_RNA|RP11-99J16__A.2_ENST00000428480.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	610	Domain IV.|EF-hand 2.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				AAGTCCGGCACCATGTCTACC	0.522000													61	127					0	0	0.014410	0	0
ERBB4	2066	broad.mit.edu	37	2	212587145	212587145	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:212587145C>T	ENST00000342788.4	-	7	1166	c.856G>A	c.(856-858)Gga>Aga	p.G286R	ERBB4_ENST00000436443.1_Missense_Mutation_p.G286R|ERBB4_ENST00000402597.1_Missense_Mutation_p.G286R	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	286	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGAATGCTCCATATGTGTAC	0.348000										TSP Lung(8;0.080)			15	16					0	0	0.006122	0	0
CCDC51	79714	broad.mit.edu	37	3	48474207	48474207	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:48474207C>T	ENST00000395694.2	-	4	932	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	CCDC51_ENST00000447018.1_Missense_Mutation_p.G174R|CCDC51_ENST00000442740.1_Missense_Mutation_p.G174R|CCDC51_ENST00000395696.1_Missense_Mutation_p.G283R|CCDC51_ENST00000412398.2_Missense_Mutation_p.G174R	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	283						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCTGTGACCCAGAGTCCTGC	0.567000													36	48					0	0	0.004878	0	0
EGFLAM	133584	broad.mit.edu	37	5	38438453	38438453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:38438453C>T	ENST00000322350.5	+	17	2706	c.2360C>T	c.(2359-2361)cCc>cTc	p.P787L	EGFLAM_ENST00000354891.3_Missense_Mutation_p.P787L|EGFLAM_ENST00000336740.6_Missense_Mutation_p.P553L|EGFLAM_ENST00000397202.2_Missense_Mutation_p.P153L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	787	EGF-like 3.|Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GCGGCCCACCCCTGTGTGAGA	0.562000													17	26					0	0	0.004007	0	0
DYSF	8291	broad.mit.edu	37	2	71709086	71709086	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:71709086G>A	ENST00000258104.3	+	3	499	c.222G>A	c.(220-222)acG>acA	p.T74T	DYSF_ENST00000413539.2_Silent_p.T74T|DYSF_ENST00000429174.2_Silent_p.T74T|DYSF_ENST00000410041.1_Silent_p.T75T|DYSF_ENST00000410020.3_Silent_p.T75T|DYSF_ENST00000409582.3_Silent_p.T74T|DYSF_ENST00000409762.1_Silent_p.T74T|DYSF_ENST00000409651.1_Silent_p.T75T|DYSF_ENST00000409366.1_Silent_p.T75T|DYSF_ENST00000409744.1_Silent_p.T75T|DYSF_ENST00000394120.2_Silent_p.T75T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	74	C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCATGAGACGATGGGGAGGA	0.552000													13	29					0	0	0.001855	0	0
SERPINI2	5276	broad.mit.edu	37	3	167184988	167184988	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:167184988G>A	ENST00000476257.1	-	4	631	c.333C>T	c.(331-333)ctC>ctT	p.L111L	SERPINI2_ENST00000264677.4_Silent_p.L111L|SERPINI2_ENST00000471111.1_Silent_p.L111L|SERPINI2_ENST00000461846.1_Silent_p.L111L			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	111					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CTTGAAGGTAGAGGGCATTGG	0.348000													32	46					0	0	0.009535	0	0
SLMAP	7871	broad.mit.edu	37	3	57894811	57894811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:57894811G>A	ENST00000295951.3	+	17	2748	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	SLMAP_ENST00000472546.1_Intron|SLMAP_ENST00000495364.1_Missense_Mutation_p.E62K|SLMAP_ENST00000442599.2_Intron|SLMAP_ENST00000494088.1_Missense_Mutation_p.E21K|SLMAP_ENST00000416870.1_Missense_Mutation_p.E21K|SLMAP_ENST00000295952.3_Missense_Mutation_p.E511K|SLMAP_ENST00000449503.2_Missense_Mutation_p.E490K|SLMAP_ENST00000428312.1_Missense_Mutation_p.E528K			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	528					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AGCTCTTTTGGAAGAAGAAAG	0.328000													35	85					0	0	0.006999	0	0
FBXO43	286151	broad.mit.edu	37	8	101153311	101153311	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:101153311T>A	ENST00000428847.2	-	2	1487	c.1171A>T	c.(1171-1173)Agc>Tgc	p.S391C		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	391					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			GACTGCGAGCTTTGTTCCCGA	0.498000													53	66					0	0	0.014410	0	0
CTNNA2	1496	broad.mit.edu	37	2	79878678	79878678	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:79878678G>A	ENST00000361291.4	+	2	98	c.97_splice	c.e2-1	p.G33_splice	CTNNA2_ENST00000466387.1_5'UTR|CTNNA2_ENST00000496558.1_5'UTR|CTNNA2_ENST00000402739.4_5'UTR|CTNNA2_ENST00000409266.1_5'UTR			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	0					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTTCCCATAGGGAGCATGACT	0.388000													27	52					0	0	0.007291	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750016	140750016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140750016C>T	ENST00000576222.1	+	1	186	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCTATTTCTCTTCCTGCT	0.577000													15	37					0	0	0.002450	0	0
BEST1	7439	broad.mit.edu	37	11	61727006	61727006	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:61727006G>C	ENST00000449131.2	+	7	810	c.724G>C	c.(724-726)Gat>Cat	p.D242H	BEST1_ENST00000435278.2_Intron|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000526988.1_Missense_Mutation_p.M263I|BEST1_ENST00000378042.3_Intron|BEST1_ENST00000378043.4_Missense_Mutation_p.D302H|BEST1_ENST00000534553.1_Intron	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	302			V -> M (in VMD2; late-onset of visual disturbance).		response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						TGGAGAGGATGATGATGATTT	0.522000													13	30					0	0	0.003163	0	0
ANAPC7	51434	broad.mit.edu	37	12	110824147	110824147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:110824147G>A	ENST00000455511.3	-	6	904	c.904C>T	c.(904-906)Cct>Tct	p.P302S	ANAPC7_ENST00000450008.2_Missense_Mutation_p.P302S	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	302				P -> L (in Ref. 1; AAF05754).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						ATCAGATAAGGATCCAACATC	0.438000													142	224					0	0	0.014410	0	0
SHANK1	50944	broad.mit.edu	37	19	51190034	51190034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:51190034C>T	ENST00000293441.1	-	19	2443	c.2425G>A	c.(2425-2427)Gag>Aag	p.E809K	SHANK1_ENST00000391813.1_Missense_Mutation_p.E196K|SHANK1_ENST00000391814.1_Missense_Mutation_p.E817K|SHANK1_ENST00000359082.3_Missense_Mutation_p.E800K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	809					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGCTTTTTCTCCATGCTGGGC	0.706000													18	35					0	0	0.002780	0	0
DCHS2	54798	broad.mit.edu	37	4	155252864	155252864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:155252864G>A	ENST00000357232.3	-	10	2235	c.2236C>T	c.(2236-2238)Cca>Tca	p.P746S	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	746	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTGCCTGCTGGACCTGCACAA	0.468000													10	15					0	0	0.006214	0	0
HERC2	8924	broad.mit.edu	37	15	28478878	28478878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:28478878G>A	ENST00000261609.7	-	28	4391	c.4283C>T	c.(4282-4284)cCc>cTc	p.P1428L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1428					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATGCTCGGGGGGAAACATGAT	0.453000													38	80					0	0	0.011902	0	0
MNAT1	4331	broad.mit.edu	37	14	61264836	61264836	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:61264836C>G	ENST00000261245.4	+	3	375	c.274C>G	c.(274-276)Cta>Gta	p.L92V	MNAT1_ENST00000539616.2_Missense_Mutation_p.L92V	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	92					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding	p.L92>?(1)		NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		TTTTCCTAGTCTAAGAGAATA	0.279000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					26	52					0	0	0.012213	0	0
SEMA4F	10505	broad.mit.edu	37	2	74883773	74883773	+	Silent	SNP	C	C	T	rs144632103		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:74883773C>T	ENST00000357877.2	+	2	407	c.258C>T	c.(256-258)ttC>ttT	p.F86F	SEMA4F_ENST00000339773.5_Silent_p.F86F	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	86	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						ACACCATCTTCGCTTTATCCC	0.532000													31	58					0	0	0.009535	0	0
METTL7B	196410	broad.mit.edu	37	12	56075782	56075782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:56075782G>A	ENST00000394252.3	+	1	453	c.244G>A	c.(244-246)Gga>Aga	p.G82R		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	82							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						CTGCGGAACCGGAGCCAACTT	0.572000													19	27					0	0	0.007413	0	0
ZNF646	9726	broad.mit.edu	37	16	31090251	31090251	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:31090251A>G	ENST00000394979.2	+	1	3029	c.2606A>G	c.(2605-2607)aAc>aGc	p.N869S	ZNF646_ENST00000300850.5_Missense_Mutation_p.N869S			O15015	ZN646_HUMAN	zinc finger protein 646	869					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CACTTCCAGAACCATAGGCCT	0.642000													33	55					0	0	0.013726	0	0
GPAT2	150763	broad.mit.edu	37	2	96689735	96689735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:96689735G>A	ENST00000434632.1	-	18	2291	c.1832C>T	c.(1831-1833)tCc>tTc	p.S611F	GPAT2_ENST00000453542.1_Missense_Mutation_p.S540F|GPAT2_ENST00000359548.4_Missense_Mutation_p.S611F|GPAT2_ENST00000377137.3_Missense_Mutation_p.S611F			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	611					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GTAGCAGTAGGAAGACTGGCA	0.617000													5	3					0	0	0.001984	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738853	176738853	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:176738853C>T	ENST00000367662.3	+	16	5598	c.4434C>T	c.(4432-4434)tcC>tcT	p.S1478S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1478	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAAACTTCTCCTGCTCAGAGG	0.522000													59	94					0	0	0.014410	0	0
TCN2	6948	broad.mit.edu	37	22	31008905	31008905	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:31008905C>T	ENST00000215838.3	+	3	797	c.303C>T	c.(301-303)tcC>tcT	p.S101S	TCN2_ENST00000405742.3_Silent_p.S97S|TCN2_ENST00000407817.3_Silent_p.S101S			P20062	TCO2_HUMAN	transcobalamin II	101					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCAAGCCTTCCATGGGCCAGC	0.587000													23	39					0	0	0.003954	0	0
C2CD2	25966	broad.mit.edu	37	21	43327229	43327229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:43327229G>A	ENST00000380486.3	-	10	1431	c.1190C>T	c.(1189-1191)cCc>cTc	p.P397L	C2CD2_ENST00000329623.7_Missense_Mutation_p.P242L	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	397						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						AGGAACAGGGGGAGGGATGGG	0.527000													14	34					0	0	0.001855	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965962	88965962	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:88965962C>T	ENST00000333190.4	+	4	4275	c.3666C>T	c.(3664-3666)tcC>tcT	p.S1222S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1222						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTCTGCTTCCTTAAGTTCTC	0.468000										HNSCC(36;0.09)			48	173					0	0	0.014410	0	0
CKMT2	1160	broad.mit.edu	37	5	80550306	80550306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:80550306C>T	ENST00000424301.2	+	5	681	c.443C>T	c.(442-444)tCa>tTa	p.S148L	CKMT2_ENST00000437669.1_Missense_Mutation_p.S148L|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.S148L	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	148					creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CTGGATGCATCAAAGGTAGGC	0.572000													23	45					0	0	0.003330	0	0
PRELP	5549	broad.mit.edu	37	1	203453084	203453084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:203453084C>T	ENST00000343110.2	+	2	899	c.772C>T	c.(772-774)Cct>Tct	p.P258S		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	258					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			TGAGACCATCCCTAACGGATA	0.512000													54	84					0	0	0.014410	0	0
MTUS2	23281	broad.mit.edu	37	13	29600626	29600626	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:29600626C>T	ENST00000431530.3	+	1	1879	c.1821C>T	c.(1819-1821)atC>atT	p.I607I		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	597						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCAGTGGGATCCCCAAGCCTG	0.532000													10	49					0	0	0.008291	0	0
TRIP6	7205	broad.mit.edu	37	7	100466486	100466486	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:100466486C>T	ENST00000200457.4	+	4	1093	c.733C>T	c.(733-735)Cag>Tag	p.Q245*		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	245					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCACGGGCCCCAGGTGAGCCC	0.607000													7	39					0	0	0.001984	0	0
ABHD16A	7920	broad.mit.edu	37	6	31660753	31660753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:31660753C>T	ENST00000538874.1	-	6	639	c.382G>A	c.(382-384)Gga>Aga	p.G128R	ABHD16A_ENST00000395952.3_Intron|ABHD16A_ENST00000375842.4_Intron|ABHD16A_ENST00000440843.2_Intron|XXbac-BPG32J3.20_ENST00000461287.1_Intron			O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	0						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CAGAGCACTCCTGAAATGGCC	0.522000													33	69					0	0	0.003271	0	0
CEP112	201134	broad.mit.edu	37	17	63898308	63898308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:63898308C>T	ENST00000392769.2	-	20	2343	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	CEP112_ENST00000537949.1_Missense_Mutation_p.E667K|CEP112_ENST00000541355.1_Missense_Mutation_p.E344K|CEP112_ENST00000535342.2_Missense_Mutation_p.E709K	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	709						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						ATTTGATTTTCGTGCTCCATA	0.388000													15	50					0	0	0.004007	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514303	58514303	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:58514303G>A	ENST00000370996.3	-	1	1049	c.684C>T	c.(682-684)ggC>ggT	p.G228G	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	228	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			TGCCCTCGGGGCCTGCGGGCC	0.682000													20	38					0	0	0.012319	0	0
GPR61	83873	broad.mit.edu	37	1	110085755	110085755	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:110085755G>A	ENST00000527748.1	+	2	794	c.111G>A	c.(109-111)cgG>cgA	p.R37R	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	37						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGGGGCTACGGGATGTTGCTT	0.612000													28	54					0	0	0.005443	0	0
SEC23B	10483	broad.mit.edu	37	20	18505091	18505091	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:18505091C>T	ENST00000336714.3	+	5	813	c.381C>T	c.(379-381)tcC>tcT	p.S127S	SEC23B_ENST00000377465.1_Silent_p.S127S|SEC23B_ENST00000377475.3_Silent_p.S127S|SEC23B_ENST00000262544.2_Silent_p.S127S	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	127					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GTGCTCAGTCCCCTCTGATCT	0.428000													44	90					0	0	0.014410	0	0
ACKR2	1238	broad.mit.edu	37	3	42906104	42906104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:42906104G>A	ENST00000422265.1	+	3	285	c.110G>A	c.(109-111)aGg>aAg	p.R37K	ACKR2_ENST00000442925.1_Missense_Mutation_p.R37K|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.R37K|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		ATGCTCTGCAGGAAGGATGCA	0.517000													44	75					0	0	0.013114	0	0
LPPR4	9890	broad.mit.edu	37	1	99771591	99771591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:99771591G>A	ENST00000370185.3	+	7	1814	c.1317G>A	c.(1315-1317)atG>atA	p.M439I	LPPR4_ENST00000457765.1_Missense_Mutation_p.M381I|LPPR4_ENST00000370184.1_Missense_Mutation_p.M281I	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		439							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATGCCTCTATGGATTCCGCTC	0.493000													34	54					0	0	0.005524	0	0
SLC4A9	83697	broad.mit.edu	37	5	139747451	139747451	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:139747451C>T	ENST00000230993.6	+	16	2429	c.2394C>T	c.(2392-2394)gcC>gcT	p.A798A	SLC4A9_ENST00000432095.2_Silent_p.A760A|SLC4A9_ENST00000506545.1_Silent_p.A711A|SLC4A9_ENST00000506757.2_Silent_p.A774A|SLC4A9_ENST00000507527.1_Silent_p.A798A	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	798	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCTGTGCCCCCGGGGAGC	0.577000													10	19					0	0	0.010729	0	0
POLR3B	55703	broad.mit.edu	37	12	106895211	106895211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:106895211C>T	ENST00000228347.4	+	26	3317	c.3095C>T	c.(3094-3096)aCc>aTc	p.T1032I	POLR3B_ENST00000539066.1_Missense_Mutation_p.T974I|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1032					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GCCGTCCTTACCAGGTAAGAG	0.443000													21	26					0	0	0.014323	0	0
SOX8	30812	broad.mit.edu	37	16	1033775	1033775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:1033775G>A	ENST00000293894.3	+	2	585	c.470G>A	c.(469-471)cGc>cAc	p.R157H		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	157					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GAGGCAGAGCGCCTTCGCGTG	0.687000													19	29					0	0	0.010504	0	0
CD47	961	broad.mit.edu	37	3	107798844	107798844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:107798844G>A	ENST00000355354.7	-	2	510	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	CD47_ENST00000361309.5_Missense_Mutation_p.R132C	NM_198793.2	NP_942088.1	Q08722	CD47_HUMAN	CD47 molecule	132					blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			TTACCAACACGATATTTTAGC	0.413000													39	80					0	0	0.004878	0	0
ATF6B	1388	broad.mit.edu	37	6	32083520	32083520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:32083520G>A	ENST00000375201.4	-	18	2144	c.2099C>T	c.(2098-2100)cCc>cTc	p.P700L	ATF6B_ENST00000375203.3_Missense_Mutation_p.P703L			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	703					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CAGAGGTCAGGGATGATTGAG	0.622000													29	156					0	0	0.010818	0	0
KLHL13	90293	broad.mit.edu	37	X	117032885	117032885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:117032885G>A	ENST00000371876.1	-	6	4222	c.1801C>T	c.(1801-1803)Ctt>Ttt	p.L601F	KLHL13_ENST00000469946.1_Missense_Mutation_p.L601F|KLHL13_ENST00000539496.1_Missense_Mutation_p.L655F|KLHL13_ENST00000540167.1_Missense_Mutation_p.L636F|KLHL13_ENST00000371878.1_Missense_Mutation_p.L601F|KLHL13_ENST00000371882.1_Missense_Mutation_p.L601F|KLHL13_ENST00000262820.3_Missense_Mutation_p.L652F|KLHL13_ENST00000545703.1_Missense_Mutation_p.L610F|KLHL13_ENST00000541812.1_Missense_Mutation_p.L636F			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	652					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTGCAGAAAGAGGGGACTCT	0.413000													48	84					0	0	0.014410	0	0
USP31	57478	broad.mit.edu	37	16	23117767	23117767	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:23117767G>A	ENST00000219689.7	-	3	812	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	271					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TACAGACAGGGAAAGATGGTC	0.393000													12	17					0	0	0.003163	0	0
DLG2	1740	broad.mit.edu	37	11	84027976	84027976	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:84027976C>T	ENST00000280241.8	-	1	212	c.213G>A	c.(211-213)agG>agA	p.R71R	DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398301.2_Silent_p.R71R|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000543673.1_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CCCACAAGGTCCTGTTGAAGC	0.602000													41	72					0	0	0.013114	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678050	25678050	+	Silent	SNP	G	G	A	rs150425667		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:25678050G>A	ENST00000382051.3	+	13	1802	c.1752G>A	c.(1750-1752)ccG>ccA	p.P584P	SLC34A2_ENST00000504570.1_Silent_p.P583P|SLC34A2_ENST00000503434.1_Silent_p.P583P	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	584					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCGTCCTGCCGAAGAAACTCC	0.622000			T	ROS1	NSCLC								59	111					0	0	0.014410	0	0
ZNF746	155061	broad.mit.edu	37	7	149171825	149171825	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:149171825G>A	ENST00000340622.3	-	7	1865	c.1585C>T	c.(1585-1587)Cgc>Tgc	p.R529C	ZNF746_ENST00000458143.2_Missense_Mutation_p.R530C			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	529					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCAGCATGCGATGGCGGATG	0.701000													14	10					0	0	0.001855	0	0
DNAH10	196385	broad.mit.edu	37	12	124285839	124285839	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:124285839G>A	ENST00000409039.3	+	15	2145	c.2120G>A	c.(2119-2121)gGg>gAg	p.G707E		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	707	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TACACAGCTGGGATACAGCGC	0.463000													79	182					0	0	0.014410	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68693003	68693003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:68693003C>T	ENST00000283916.6	-	8	1026	c.928G>A	c.(928-930)Gga>Aga	p.G310R	TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.G193R|RP11-453E17.1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	310	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GCGCCCCATCCTGTTACATAA	0.378000													40	90					0	0	0.009718	0	0
OR4C46	119749	broad.mit.edu	37	11	51515496	51515496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:51515496C>T	ENST00000328188.1	+	1	215	c.215C>T	c.(214-216)tCc>tTc	p.S72F		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GCCTGCTATTCCTCTGTCAAT	0.473000													68	143					0	0	0.014410	0	0
OR8B12	219858	broad.mit.edu	37	11	124413276	124413276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:124413276G>A	ENST00000306842.2	-	1	299	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CCCTGTGAAGGAAATGATGTT	0.438000													15	52					0	0	0.003163	0	0
F8	2157	broad.mit.edu	37	X	154157306	154157306	+	Missense_Mutation	SNP	C	C	T	rs142347597	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:154157306C>T	ENST00000360256.4	-	14	4959	c.4759G>A	c.(4759-4761)Gat>Aat	p.D1587N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1587	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TAGTGGTTATCCCAAGCAAGA	0.423000													135	167					0	0	0.014410	0	0
NIM1K	167359	broad.mit.edu	37	5	43280276	43280276	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:43280276G>A	ENST00000512796.1	+	4	2255	c.756G>A	c.(754-756)gtG>gtA	p.V252V	NIM1_ENST00000326035.2_Silent_p.V252V			Q8IY84	NIM1_HUMAN		252	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										GCATTTACGTGGATATCTGGG	0.517000													32	60					0	0	0.008361	0	0
BGN	633	broad.mit.edu	37	X	152770096	152770096	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:152770096C>T	ENST00000331595.4	+	2	193	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	BGN_ENST00000370204.1_5'UTR|BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	3						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCCATGTGGCCCCTGTGGCG	0.637000													12	29					0	0	0.010729	0	0
ZNF28	7576	broad.mit.edu	37	19	53303783	53303783	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:53303783A>T	ENST00000438150.2	-	2	2049	c.1156T>A	c.(1156-1158)Tac>Aac	p.Y386N	ZNF28_ENST00000457749.2_Missense_Mutation_p.Y439N|ZNF28_ENST00000414252.2_Missense_Mutation_p.Y386N|ZNF28_ENST00000360272.4_Missense_Mutation_p.Y386N			P17035	ZNF28_HUMAN	zinc finger protein 28	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTACACTTGTAAGGCTTCTCT	0.368000													57	119					0	0	0.014410	0	0
LARGE	9215	broad.mit.edu	37	22	33777977	33777977	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:33777977G>A	ENST00000354992.2	-	10	1630	c.1059C>T	c.(1057-1059)ccC>ccT	p.P353P	LARGE_ENST00000397394.2_Silent_p.P353P|LARGE_ENST00000402320.1_Silent_p.P353P|LARGE_ENST00000337431.2_Silent_p.P353P|LARGE_ENST00000452586.2_Silent_p.P152P|LARGE_ENST00000437602.2_Silent_p.P353P	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	353					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TCCAGAAGCAGGGGAGCTGGT	0.522000													37	69					0	0	0.004878	0	0
CCDC146	57639	broad.mit.edu	37	7	76891536	76891536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:76891536G>A	ENST00000285871.4	+	9	1212	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	CCDC146_ENST00000431197.1_Missense_Mutation_p.R108Q|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	362										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CGAGATTTTCGAAATTTAAGA	0.418000													25	79					0	0	0.003954	0	0
SPHK1	8877	broad.mit.edu	37	17	74383547	74383547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:74383547G>A	ENST00000545180.1	+	8	1844	c.1035G>A	c.(1033-1035)atG>atA	p.M345I	SPHK1_ENST00000323374.4_Missense_Mutation_p.M431I|SPHK1_ENST00000592299.1_Missense_Mutation_p.M345I|SPHK1_ENST00000392496.3_Missense_Mutation_p.M345I|SPHK1_ENST00000590959.1_Missense_Mutation_p.M359I			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	345					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						GGGAATTGATGGTTAGCGAGG	0.597000													13	32					0	0	0.002450	0	0
ELAC2	60528	broad.mit.edu	37	17	12903527	12903527	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:12903527G>A	ENST00000338034.4	-	15	1608	c.1369C>T	c.(1369-1371)Cag>Tag	p.Q457*	ELAC2_ENST00000426905.3_Nonsense_Mutation_p.Q417*|ELAC2_ENST00000395962.2_Nonsense_Mutation_p.Q438*	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	457					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						ACGCTCTGCTGGAAGTTGGGA	0.582000													15	41					0	0	0.003163	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30950952	30950952	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:30950952G>A	ENST00000402321.1	-	3	1577	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	GAL3ST1_ENST00000401975.1_Silent_p.F420F|GAL3ST1_ENST00000406955.1_Silent_p.F420F|GAL3ST1_ENST00000406361.1_Silent_p.F420F|GAL3ST1_ENST00000338911.5_Silent_p.F420F|GAL3ST1_ENST00000402369.1_Silent_p.F420F|GAL3ST1_ENST00000443111.2_Silent_p.F420F			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	420					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						ACCACCGCAGGAAATCGCGAA	0.687000													13	18					0	0	0.003163	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063188	48063188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:48063188C>T	ENST00000316364.5	+	19	2867	c.2428C>T	c.(2428-2430)Ccg>Tcg	p.P810S	SEMA6D_ENST00000389428.3_Missense_Mutation_p.P735S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P767S|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P810S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P748S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P748S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P791S|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P754S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P748S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	810					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCAGTTTTTTCCGTCTAGTCC	0.502000													38	81					0	0	0.005524	0	0
AQP8	343	broad.mit.edu	37	16	25232823	25232823	+	Silent	SNP	C	C	T	rs148689630	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:25232823C>T	ENST00000219660.5	+	3	431	c.306C>T	c.(304-306)atC>atT	p.I102I	AQP8_ENST00000566125.1_Silent_p.I96I	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	102					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CCATGCTGATCGGAGGCCTCA	0.632000													40	79					0	0	0.007835	0	0
DSG2	1829	broad.mit.edu	37	18	29126575	29126575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:29126575G>A	ENST00000261590.8	+	15	3435	c.3226G>A	c.(3226-3228)Gtg>Atg	p.V1076M	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	1076					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GAACACCACGGTGTCTGGAGC	0.473000													44	82					0	0	0.011902	0	0
ITIH6	347365	broad.mit.edu	37	X	54784031	54784031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:54784031G>A	ENST00000218436.6	-	8	2505	c.2476C>T	c.(2476-2478)Cct>Tct	p.P826S		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	826	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GGAACCCTAGGTCTGGTGTGT	0.522000													52	94					0	0	0.014410	0	0
GCAT	23464	broad.mit.edu	37	22	38211288	38211288	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:38211288G>A	ENST00000323205.6	+	5	872		c.e5+1		GCAT_ENST00000248924.6_Splice_Site	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase						biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCACAGGACGGTGGGACCATG	0.622000													15	20					0	0	0.006122	0	0
IBSP	3381	broad.mit.edu	37	4	88732577	88732577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:88732577G>A	ENST00000226284.5	+	7	536	c.469G>A	c.(469-471)Gag>Aag	p.E157K		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	157	Asp/Glu-rich (acidic).|Poly-Glu.				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		agaggaggaagaggaaggaaa	0.428000													8	23					0	0	0.003080	0	0
TENM4	26011	broad.mit.edu	37	11	78369594	78369594	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:78369594G>A	ENST00000278550.7	-	34	8281	c.7819C>T	c.(7819-7821)Ctg>Ttg	p.L2607L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GTGAAGTGCAGGTTCTCTAGG	0.557000													13	21					0	0	0.001855	0	0
KRT75	9119	broad.mit.edu	37	12	52828043	52828043	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:52828043C>T	ENST00000252245.5	-	1	266	c.46G>A	c.(46-48)Ggc>Agc	p.G16S		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	16	Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GTGCTGAAGCCCCTGCGGCTG	0.677000													19	12					0	0	0.008871	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125876337	125876337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:125876337C>T	ENST00000393434.2	-	4	726	c.377G>A	c.(376-378)gGa>gAa	p.G126E	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G126E|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.G136E|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.G126E	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	126	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTTCTTATCTCCGTGAATGAG	0.592000													38	54					0	0	0.010771	0	0
CD209	30835	broad.mit.edu	37	19	7812351	7812351	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:7812351C>T	ENST00000593660.1	-	0	46				CD209_ENST00000315599.7_Splice_Site|CD209_ENST00000301357.8_Splice_Site|CD209_ENST00000204801.8_Splice_Site|CD209_ENST00000602261.1_Splice_Site|CD209_ENST00000315591.8_Splice_Site|CD209_ENST00000354397.6_Splice_Site|CD209_ENST00000601951.1_De_novo_Start_InFrame|CD209_ENST00000593821.1_Splice_Site|CD209_ENST00000601256.1_De_novo_Start_InFrame|CD209_ENST00000394173.4_Splice_Site|CD209_ENST00000394161.5_Splice_Site			Q9NNX6	CD209_HUMAN	CD209 molecule						cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCAGCCTCACCCAGGAGGCC	0.592000													84	160					0	0	0.014410	0	0
CPED1	79974	broad.mit.edu	37	7	120911433	120911433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:120911433G>A	ENST00000310396.5	+	22	3284	c.2817G>A	c.(2815-2817)atG>atA	p.M939I		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CTATAACAATGGGGCGTTACA	0.343000													37	135					0	0	0.006999	0	0
RNASE4	6038	broad.mit.edu	37	14	21167737	21167737	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:21167737C>T	ENST00000555835.1	+	2	883	c.207C>T	c.(205-207)cgC>cgT	p.R69R	RNASE4_ENST00000397995.2_Silent_p.R69R|RNASE4_ENST00000304704.4_Silent_p.R69R|RP11-903H12.3_ENST00000554286.1_lincRNA|AL163636.6_ENST00000553909.1_RNA|RNASE4_ENST00000555597.1_Silent_p.R69R	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	69	Substrate binding.				mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		ACTGCAAGCGCTTCAACACCT	0.493000													37	68					0	0	0.004878	0	0
ATM	472	broad.mit.edu	37	11	108225561	108225561	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:108225561T>G	ENST00000278616.4	+	61	9195	c.8810T>G	c.(8809-8811)gTg>gGg	p.V2937G	ATM_ENST00000452508.2_Missense_Mutation_p.V2937G|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2937	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACCATGGAAGTGATGAGAAAC	0.338000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			56	116					0	0	0.014410	0	0
PER3	8863	broad.mit.edu	37	1	7844950	7844950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:7844950G>A	ENST00000377532.3	+	1	237	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	PER3_ENST00000361923.2_Missense_Mutation_p.E5K|PER3_ENST00000377541.1_Missense_Mutation_p.E5K			P56645	PER3_HUMAN	period circadian clock 3	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCGCGGGGAAGCTCCTGG	0.677000													8	3					0	0	0.003080	0	0
PARD6G	84552	broad.mit.edu	37	18	77918291	77918291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:77918291C>T	ENST00000353265.3	-	3	691	c.494G>A	c.(493-495)gGc>gAc	p.G165D	AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000585422.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	165	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CTTCTCGCAGCCGTGCCGGTG	0.687000													7	10					0	0	0.003080	0	0
OSBPL3	26031	broad.mit.edu	37	7	24902874	24902874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:24902874G>A	ENST00000313367.2	-	9	1266	c.815C>T	c.(814-816)tCg>tTg	p.S272L	OSBPL3_ENST00000396431.1_Intron|OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000396429.1_Missense_Mutation_p.S272L|OSBPL3_ENST00000352860.1_Intron|OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000353930.1_Missense_Mutation_p.S272L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	272					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCTCCTGTGCGATCTTTTTTC	0.458000													38	82					0	0	0.006230	0	0
CNOT6	57472	broad.mit.edu	37	5	179992836	179992836	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:179992836G>T	ENST00000393356.1	+	9	1000	c.576G>T	c.(574-576)atG>atT	p.M192I	CNOT6_ENST00000261951.4_Missense_Mutation_p.M192I			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	192					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTTCTGTCATGTGCTATAATG	0.363000													33	58					6.00712e-18	6.2031e-18	0.012213	1	0
MARK4	57787	broad.mit.edu	37	19	45766591	45766591	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:45766591C>T	ENST00000300843.4	+	4	618	c.321C>T	c.(319-321)gtC>gtT	p.V107V	MARK4_ENST00000262891.4_Silent_p.V107V	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	107	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCGAGAAGTCCGCATCATGA	0.622000													28	61					0	0	0.009535	0	0
HYAL4	23553	broad.mit.edu	37	7	123508985	123508985	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:123508985T>A	ENST00000223026.4	+	3	1296	c.658T>A	c.(658-660)Tat>Aat	p.Y220N	HYAL4_ENST00000476325.1_Missense_Mutation_p.Y220N	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	220					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTATTATTTATATCCTGATTG	0.428000													24	79					0	0	0.003330	0	0
WISP3	8838	broad.mit.edu	37	6	112386017	112386017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:112386017C>T	ENST00000361714.1	+	3	505	c.460C>T	c.(460-462)Cag>Tag	p.Q154*	WISP3_ENST00000368663.3_Nonsense_Mutation_p.Q113*|WISP3_ENST00000230529.5_Nonsense_Mutation_p.Q136*|WISP3_ENST00000368666.2_Nonsense_Mutation_p.Q136*|WISP3_ENST00000604763.1_Nonsense_Mutation_p.Q136*|WISP3_ENST00000409166.1_5'UTR			O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	136					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CCAAGTGTTTCAGCCCAACCC	0.488000													58	37					0	0	0.014410	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981553	61981553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:61981553G>A	ENST00000370263.4	-	5	1431	c.1210C>T	c.(1210-1212)Ccc>Tcc	p.P404S	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	404					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GACGGTGAGGGCGGGTGCAGG	0.682000													5	14					0	0	0.001984	0	0
PCDH15	65217	broad.mit.edu	37	10	55582773	55582773	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:55582773C>T	ENST00000361849.3	-	34	5113	c.4719G>A	c.(4717-4719)caG>caA	p.Q1573Q	PCDH15_ENST00000395432.2_Silent_p.Q1531Q|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395430.1_Silent_p.Q1568Q|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Silent_p.Q1502Q|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000320301.6_Silent_p.Q1571Q|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395433.1_Silent_p.Q1548Q|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395440.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1571					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCACAGCCTCTGAATCTTTT	0.468000										HNSCC(58;0.16)			52	25					0	0	0.014410	0	0
GLTPD2	388323	broad.mit.edu	37	17	4692539	4692539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:4692539G>A	ENST00000331264.7	+	2	178	c.125G>A	c.(124-126)gGa>gAa	p.G42E		NM_001014985.2	NP_001014985.2			glycolipid transfer protein domain containing 2											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						TCGGGCTGCGGACCCAGGGCG	0.701000													7	11					0	0	0.003080	0	0
RUNX1T1	862	broad.mit.edu	37	8	92982904	92982904	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:92982904C>T	ENST00000523629.1	-	11	1975	c.1521G>A	c.(1519-1521)caG>caA	p.Q507Q	RUNX1T1_ENST00000396218.1_Silent_p.Q480Q|RUNX1T1_ENST00000436581.2_Silent_p.Q518Q|RUNX1T1_ENST00000520724.1_Silent_p.Q470Q|RUNX1T1_ENST00000422361.2_Silent_p.Q470Q|RUNX1T1_ENST00000518844.1_Silent_p.Q480Q|RUNX1T1_ENST00000360348.2_Silent_p.Q470Q|RUNX1T1_ENST00000265814.3_Silent_p.Q507Q	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	507					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AATCCTCCTGCTGATTGATAA	0.512000													21	34					0	0	0.014323	0	0
OR2T2	401992	broad.mit.edu	37	1	248616309	248616309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:248616309G>A	ENST00000342927.3	+	1	233	c.211G>A	c.(211-213)Gat>Aat	p.D71N		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCCATCATGGATACCATCTA	0.517000													32	175					0	0	0.009718	0	0
TEX15	56154	broad.mit.edu	37	8	30703552	30703552	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:30703552G>A	ENST00000256246.2	-	1	3056	c.2982C>T	c.(2980-2982)tcC>tcT	p.S994S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	994										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTAGTTTTCTGGAAAGACATT	0.343000													64	87					0	0	0.014410	0	0
DISP1	84976	broad.mit.edu	37	1	223116562	223116562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:223116562C>T	ENST00000284476.6	+	2	561	c.397C>T	c.(397-399)Cct>Tct	p.P133S	DISP1_ENST00000360254.2_Missense_Mutation_p.P133S|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	133					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AAATCATTCACCTGTGTATCA	0.547000													104	176					0	0	0.014410	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997332	146997332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:146997332G>A	ENST00000361727.3	+	9	1964	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	483	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAGCAGTTCGAACTAATAGT	0.423000										HNSCC(39;0.1)			71	61					0	0	0.014410	0	0
TNXB	7148	broad.mit.edu	37	6	32037435	32037435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:32037435C>T	ENST00000375244.3	-	15	5683	c.5482G>A	c.(5482-5484)Gag>Aag	p.E1828K	TNXB_ENST00000375247.2_Missense_Mutation_p.E1828K			P22105	TENX_HUMAN	tenascin XB	1910	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACGCTGACCTCCCTGAGGCTG	0.667000													37	79					0	0	0.004289	0	0
ERBB4	2066	broad.mit.edu	37	2	212587144	212587144	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:212587144C>A	ENST00000342788.4	-	7	1167	c.857G>T	c.(856-858)gGa>gTa	p.G286V	ERBB4_ENST00000436443.1_Missense_Mutation_p.G286V|ERBB4_ENST00000402597.1_Missense_Mutation_p.G286V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	286	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACAGAATGCTCCATATGTGTA	0.343000										TSP Lung(8;0.080)			14	15					3.41278e-10	3.49438e-10	0.004990	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5239924	5239924	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:5239924G>A	ENST00000274181.7	+	16	2547	c.2409G>A	c.(2407-2409)gtG>gtA	p.V803V		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	803	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACTGGACCGTGGACTGGCCCG	0.522000													42	82					0	0	0.010771	0	0
CAD	790	broad.mit.edu	37	2	27447254	27447254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:27447254C>T	ENST00000264705.4	+	9	1312	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S	CAD_ENST00000403525.1_Missense_Mutation_p.P384S	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	384	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCCTGGGATTCCCACTCCCGG	0.572000													34	66					0	0	0.004878	0	0
NEB	4703	broad.mit.edu	37	2	152520169	152520169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:152520169C>T	ENST00000397345.3	-	45	5858	c.5656G>A	c.(5656-5658)Gaa>Aaa	p.E1886K	NEB_ENST00000603639.1_Missense_Mutation_p.E1886K|NEB_ENST00000409198.1_Missense_Mutation_p.E1886K|NEB_ENST00000172853.10_Missense_Mutation_p.E1886K|NEB_ENST00000427231.2_Missense_Mutation_p.E1886K|NEB_ENST00000604864.1_Missense_Mutation_p.E1886K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1886					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGGCCACTTCCTGAGACTTC	0.493000													24	10					0	0	0.014323	0	0
GPR110	266977	broad.mit.edu	37	6	46991840	46991840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:46991840G>A	ENST00000371253.2	-	5	606	c.391C>T	c.(391-393)Cca>Tca	p.P131S	GPR110_ENST00000371243.2_Missense_Mutation_p.P131S|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	131					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TCACAGCTTGGGAGTGCTCCA	0.517000													38	31					0	0	0.006230	0	0
GEMIN4	50628	broad.mit.edu	37	17	649017	649017	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:649017G>A	ENST00000576778.1	-	1	3574	c.2233C>T	c.(2233-2235)Ctg>Ttg	p.L745L	GEMIN4_ENST00000319004.5_Silent_p.L756L			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	756					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGCCAGGACAGGGACTTGATC	0.537000													3	16					0	0	0.009096	0	0
HMSD	284293	broad.mit.edu	37	18	61627535	61627535	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:61627535C>T	ENST00000408945.3	+	4	568	c.366C>T	c.(364-366)ttC>ttT	p.F122F	HMSD_ENST00000481726.1_Intron	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	122						extracellular region	serine-type endopeptidase inhibitor activity	p.F122F(1)		kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						TATTCTATTTCGATAATATTT	0.299000													4	16					0	0	0.009096	0	0
OR1L8	138881	broad.mit.edu	37	9	125330182	125330182	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:125330182G>A	ENST00000304865.2	-	1	656	c.575C>T	c.(574-576)tCc>tTc	p.S192F		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GACAAATATGGAAGAGCAGGA	0.433000													25	12					0	0	0.003330	0	0
PRB3	5544	broad.mit.edu	37	12	11421055	11421055	+	RNA	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:11421055C>T	ENST00000381842.3	-	0	165				PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTGGTTTCCTCCTTGTGGGCG	0.572000													60	96					0	0	0.014410	0	0
NUTM1	256646	broad.mit.edu	37	15	34648549	34648549	+	Silent	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:34648549A>G	ENST00000537011.1	+	8	2722	c.2340A>G	c.(2338-2340)gtA>gtG	p.V780V	NUTM1_ENST00000438749.3_Silent_p.V770V|NUTM1_ENST00000333756.4_Silent_p.V752V					NUT midline carcinoma, family member 1																		AGAAGTGTGTAACTGAGTATC	0.542000													32	51					0	0	0.010818	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119099820	119099820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:119099820C>T	ENST00000264245.4	+	4	950	c.418C>T	c.(418-420)Cca>Tca	p.P140S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	140	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	p.P140A(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGAGCTTCCTCCATCCCACTA	0.493000													26	35					0	0	0.005443	0	0
CATSPERB	79820	broad.mit.edu	37	14	92126199	92126199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:92126199C>T	ENST00000256343.3	-	15	1570	c.1414G>A	c.(1414-1416)Gtt>Att	p.V472I		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	472					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GTCGAGTAAACCTTTCCACGT	0.338000													19	57					0	0	0.002780	0	0
C6	729	broad.mit.edu	37	5	41159225	41159225	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:41159225C>T	ENST00000263413.3	-	12	2079	c.1815G>A	c.(1813-1815)aaG>aaA	p.K605K	C6_ENST00000337836.5_Silent_p.K605K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	605	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCTCTTGTCGCTTCTCCCCCT	0.473000													52	98					0	0	0.014410	0	0
CARM1	10498	broad.mit.edu	37	19	11018818	11018818	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:11018818C>T	ENST00000327064.4	+	3	640	c.450C>T	c.(448-450)ttC>ttT	p.F150F	CARM1_ENST00000344150.4_Silent_p.F150F	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	150					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TGCAGTACTTCCAGGTGGGTT	0.652000													31	39					0	0	0.008361	0	0
VWA3B	200403	broad.mit.edu	37	2	98851177	98851177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:98851177G>A	ENST00000477737.1	+	17	2579	c.2375G>A	c.(2374-2376)aGg>aAg	p.R792K		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	792										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCAGTGAAAGGAAGGATGGC	0.527000													19	12					0	0	0.008871	0	0
DSP	1832	broad.mit.edu	37	6	7565654	7565654	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:7565654C>T	ENST00000379802.3	+	7	1181	c.840C>T	c.(838-840)tcC>tcT	p.S280S	DSP_ENST00000418664.2_Silent_p.S280S	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	280	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGCCACGTCCAGGGAGATCA	0.517000													24	66					0	0	0.004656	0	0
DLL4	54567	broad.mit.edu	37	15	41228768	41228768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:41228768C>T	ENST00000249749.5	+	9	1859	c.1583C>T	c.(1582-1584)cCc>cTc	p.P528L		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	528					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCCAGCTTCCCCTGGGTGGCC	0.667000													5	9					0	0	0.001168	0	0
C1QL1	10882	broad.mit.edu	37	17	43045296	43045296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:43045296C>T	ENST00000253407.3	-	1	143	c.121G>A	c.(121-123)Ggc>Agc	p.G41S		NM_006688.3	NP_006679.1	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	41					locomotory behavior	collagen				lung(1)|prostate(1)	2		Prostate(33;0.155)				gcgccggcgccggggccccgc	0.781000													4	9					0	0	0.000602	0	0
ZNF668	79759	broad.mit.edu	37	16	31072632	31072632	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:31072632C>T	ENST00000538906.1	-	3	2401	c.1617G>A	c.(1615-1617)ccG>ccA	p.P539P	ZNF668_ENST00000426488.2_Silent_p.P562P|ZNF668_ENST00000539836.3_Silent_p.P562P|ZNF668_ENST00000394983.2_Silent_p.P539P|ZNF668_ENST00000300849.4_Silent_p.P539P|ZNF668_ENST00000535577.1_Silent_p.P539P	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCCGGAGCTCCGGGTGTGAGC	0.652000													26	60					0	0	0.003954	0	0
EPB41	2035	broad.mit.edu	37	1	29438901	29438901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:29438901G>A	ENST00000343067.4	+	19	2564	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	EPB41_ENST00000373800.3_Missense_Mutation_p.E537K|EPB41_ENST00000356093.2_Missense_Mutation_p.E780K|EPB41_ENST00000347529.3_Missense_Mutation_p.E724K|EPB41_ENST00000349460.4_Missense_Mutation_p.E590K|EPB41_ENST00000460378.1_3'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.E716K|EPB41_ENST00000373798.1_Missense_Mutation_p.E813K	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	813	Carboxyl-terminal (CTD).				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TGGGATTTCAGAGACACGTAT	0.418000													43	62					0	0	0.014410	0	0
TCP10	6953	broad.mit.edu	37	6	167786754	167786754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:167786754G>A	ENST00000397829.4	-	8	1051	c.884C>T	c.(883-885)cCa>cTa	p.P295L	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	322						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CTTGCCCTTTGGATGTCGTTT	0.542000													8	43					0	0	0.013537	0	0
SRRM1	10250	broad.mit.edu	37	1	24981485	24981485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:24981485C>T	ENST00000323848.9	+	9	1495	c.1180C>T	c.(1180-1182)Cct>Tct	p.P394S	SRRM1_ENST00000447431.2_Missense_Mutation_p.P394S|SRRM1_ENST00000374389.4_Missense_Mutation_p.P389S|SRRM1_ENST00000537199.1_Missense_Mutation_p.275_275insV|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	394	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TTCAGCAAGTCCTCCAAGGCG	0.542000													45	66					0	0	0.009718	0	0
SIRPB2	284759	broad.mit.edu	37	20	1458921	1458921	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:1458921C>T	ENST00000359801.3	-	3	819	c.783G>A	c.(781-783)ctG>ctA	p.L261L	SIRPB2_ENST00000537284.1_Silent_p.L123L|SIRPB2_ENST00000381630.1_Silent_p.L163L|SIRPB2_ENST00000444444.1_Silent_p.L163L	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	261						integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTTTCACTTTCAGGCTGGTGC	0.478000													27	45					0	0	0.004656	0	0
UBA6	55236	broad.mit.edu	37	4	68489893	68489893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:68489893G>A	ENST00000322244.4	-	30	2850	c.2791C>T	c.(2791-2793)Cca>Tca	p.P931S		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	931					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ACTACAATTGGAATGGCTAAG	0.313000													24	42					0	0	0.002780	0	0
PCLO	27445	broad.mit.edu	37	7	82784258	82784258	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:82784258G>A	ENST00000423517.2	-	2	2036	c.1699C>T	c.(1699-1701)Ctg>Ttg	p.L567L	PCLO_ENST00000333891.8_Silent_p.L567L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	513	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGGCTGCAGAGGTTTTCCA	0.512000													298	265					0	0	0.014410	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710787	140710787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140710787C>T	ENST00000517417.1	+	1	536	c.536C>T	c.(535-537)tCc>tTc	p.S179F	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.S179F	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCATTTCTCCCTGGATGTG	0.527000													58	81					0	0	0.014410	0	0
PIGR	5284	broad.mit.edu	37	1	207110999	207110999	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:207110999C>T	ENST00000356495.4	-	4	669	c.486G>A	c.(484-486)agG>agA	p.R162R		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	162	Ig-like V-type 2.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACAAGGACTTCCTCTTTTGAG	0.478000													10	19					0	0	0.008291	0	0
PRSS37	136242	broad.mit.edu	37	7	141537845	141537845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:141537845G>A	ENST00000350549.3	-	3	616	c.245C>T	c.(244-246)cCc>cTc	p.P82L	PRSS37_ENST00000438520.1_Missense_Mutation_p.P82L	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	82	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GATCTGAATGGGGTTAATTGT	0.488000													118	135					0	0	0.014410	0	0
DNAH8	1769	broad.mit.edu	37	6	38891859	38891859	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:38891859G>A	ENST00000359357.3	+	71	10486	c.10232G>A	c.(10231-10233)tGg>tAg	p.W3411*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W3375*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.W3628*|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAGATCAATGGGAAATGGAG	0.393000													23	99					0	0	0.014323	0	0
DHX37	57647	broad.mit.edu	37	12	125434747	125434747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:125434747G>A	ENST00000308736.2	-	24	3262	c.3164C>T	c.(3163-3165)cCa>cTa	p.P1055L	DHX37_ENST00000544745.1_Missense_Mutation_p.P842L	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1055							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AATCCCCTCTGGAAAATCCAC	0.647000													14	29					0	0	0.004990	0	0
MCM3AP	8888	broad.mit.edu	37	21	47699946	47699946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:47699946G>A	ENST00000397708.1	-	5	1882	c.1628C>T	c.(1627-1629)gCc>gTc	p.A543V	MCM3AP_ENST00000291688.1_Missense_Mutation_p.A543V			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	543					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCTCCCTGCGGCCTTGCCAAG	0.537000													38	80					0	0	0.006999	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42390513	42390513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:42390513G>A	ENST00000426726.3	+	3	539	c.265G>A	c.(265-267)Ggg>Agg	p.G89R	AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000590941.1_Missense_Mutation_p.G84R|RUNDC3A_ENST00000225441.7_Missense_Mutation_p.G89R	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	89	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CAGCTCAGACGGGCAGCGGGG	0.607000													21	43					0	0	0.014323	0	0
IGLV3-9	28804	broad.mit.edu	37	22	23162212	23162212	+	RNA	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:23162212C>T	ENST00000390316.2	+	0	420																											GGGGATGAGGCTGACTATTAC	0.567000													14	30					0	0	0.002450	0	0
CGNL1	84952	broad.mit.edu	37	15	57730863	57730863	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:57730863G>A	ENST00000281282.5	+	2	744	c.666G>A	c.(664-666)gtG>gtA	p.V222V		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	222	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCAGCTCCGTGGTCATAGAGG	0.547000													67	122					0	0	0.014410	0	0
DSP	1832	broad.mit.edu	37	6	7580541	7580541	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:7580541C>A	ENST00000379802.3	+	23	4459	c.4118C>A	c.(4117-4119)aCc>aAc	p.T1373N	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1373	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCAACATCACCAAGACCACC	0.448000													36	86					2.42023e-17	2.49742e-17	0.003271	1	0
ABCA4	24	broad.mit.edu	37	1	94473190	94473190	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:94473190C>T	ENST00000370225.3	-	43	6091	c.6005_splice	c.e43+1	p.S2002_splice	ABCA4_ENST00000536513.1_Splice_Site_p.S272_splice|ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000535881.1_Splice_Site_p.S121_splice	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2002	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGATACTCACCTCTTGCCTGC	0.557000													28	67					0	0	0.006320	0	0
KLHL14	57565	broad.mit.edu	37	18	30349751	30349751	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:30349751G>A	ENST00000359358.4	-	2	1242	c.804C>T	c.(802-804)ctC>ctT	p.L268L	KLHL14_ENST00000358095.4_Silent_p.L268L	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	268	BACK.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GGGCCGGGATGAGGGCGAAGC	0.647000													31	44					0	0	0.003271	0	0
SOX6	55553	broad.mit.edu	37	11	16071294	16071294	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:16071294C>T	ENST00000528252.1	-	10	1509	c.1319G>A	c.(1318-1320)tGg>tAg	p.W440*	SOX6_ENST00000396356.3_Intron|SOX6_ENST00000527619.1_Nonsense_Mutation_p.W443*|SOX6_ENST00000316399.6_Intron|SOX6_ENST00000528429.1_Intron|SOX6_ENST00000352083.6_Intron	NM_001145811.1	NP_001139283.1	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	478					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TTGACTTTTCCATTTACCTAA	0.443000													64	155					0	0	0.014410	0	0
PAN2	9924	broad.mit.edu	37	12	56726705	56726705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:56726705C>T	ENST00000425394.2	-	2	550	c.174G>A	c.(172-174)atG>atA	p.M58I	PAN2_ENST00000257931.5_Missense_Mutation_p.M58I|PAN2_ENST00000440411.3_Missense_Mutation_p.M58I|PAN2_ENST00000548043.1_Missense_Mutation_p.M58I	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	58					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGACACCTTCCATTATGTGCA	0.557000													37	68					0	0	0.003755	0	0
C16orf90	646174	broad.mit.edu	37	16	3544818	3544818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:3544818C>T	ENST00000437192.3	-	2	108	c.106G>A	c.(106-108)Gag>Aag	p.E36K	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	26										large_intestine(1)	1						AGGCCCCCCTCGTAGATGTTG	0.716000													13	19					0	0	0.002450	0	0
BZRAP1	9256	broad.mit.edu	37	17	56389437	56389437	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:56389437G>A	ENST00000355701.3	-	17	3615	c.2745C>T	c.(2743-2745)ctC>ctT	p.L915L	BZRAP1_ENST00000343736.4_Silent_p.L915L|BZRAP1_ENST00000268893.6_Silent_p.L855L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	915	Fibronectin type-III 2.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTCCCCATTGAGGTAGATGG	0.622000													21	54					0	0	0.012319	0	0
SLC22A9	114571	broad.mit.edu	37	11	63176257	63176257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:63176257G>A	ENST00000279178.3	+	9	1756	c.1507G>A	c.(1507-1509)Gga>Aga	p.G503R	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	503					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GATCATCTATGGAGTCTTCCC	0.488000													40	51					0	0	0.007835	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144946721	144946721	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:144946721C>T	ENST00000369359.4	-	8	989	c.951G>A	c.(949-951)caG>caA	p.Q317Q	PDE4DIP_ENST00000369351.3_Silent_p.Q180Q|PDE4DIP_ENST00000530740.1_Silent_p.Q317Q|PDE4DIP_ENST00000369349.3_Silent_p.Q180Q|PDE4DIP_ENST00000369356.4_Silent_p.Q180Q|PDE4DIP_ENST00000369354.3_Silent_p.Q180Q|PDE4DIP_ENST00000313382.9_Silent_p.Q246Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	180					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAGCCAGGCTCTGATTCAGTT	0.423000			T	PDGFRB	MPD								17	133					0	0	0.007413	0	0
LIN7A	8825	broad.mit.edu	37	12	81283035	81283035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:81283035G>A	ENST00000552864.1	-	2	398	c.196C>T	c.(196-198)Cga>Tga	p.R66*		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	66	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CATACCTCTCGAATAGCTGTA	0.343000													26	37					0	0	0.005443	0	0
CRISP3	10321	broad.mit.edu	37	6	49696553	49696553	+	Missense_Mutation	SNP	C	C	T	rs113164514		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:49696553C>T	ENST00000433368.2	-	8	766	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	CRISP3_ENST00000393666.1_Missense_Mutation_p.E210K|CRISP3_ENST00000423399.2_Missense_Mutation_p.E120K|CRISP3_ENST00000263045.4_Missense_Mutation_p.E223K|CRISP3_ENST00000371159.4_Missense_Mutation_p.E241K	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	210					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TAGAGATCTTCGTACTTGCAA	0.358000													59	50					0	0	0.014410	0	0
TH	7054	broad.mit.edu	37	11	2186909	2186909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:2186909C>T	ENST00000381178.1	-	12	1300	c.1282G>A	c.(1282-1284)Ggg>Agg	p.G428R	TH_ENST00000333684.5_Missense_Mutation_p.G307R|TH_ENST00000381175.1_Missense_Mutation_p.G424R|TH_ENST00000352909.3_Missense_Mutation_p.G397R	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	428					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	p.G428W(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	AGGAGCTCCCCGTAGGAGGAC	0.667000													7	19					0	0	0.004482	0	0
VWF	7450	broad.mit.edu	37	12	6080784	6080784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:6080784G>A	ENST00000261405.5	-	44	7783	c.7529C>T	c.(7528-7530)tCc>tTc	p.S2510F		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2510					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGAAGACTGGGAGTCCCCCCG	0.612000													31	51					0	0	0.008361	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44217832	44217832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:44217832C>T	ENST00000371554.1	+	5	803	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R197W|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R197W			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	197					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGAAGAGAGGCGGGTCAAAGA	0.433000													60	94					0	0	0.014410	0	0
EMB	133418	broad.mit.edu	37	5	49699070	49699070	+	Silent	SNP	A	A	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:49699070A>T	ENST00000303221.5	-	6	1034	c.819T>A	c.(817-819)ctT>ctA	p.L273L	EMB_ENST00000508934.1_Silent_p.L219L|EMB_ENST00000514111.1_Silent_p.L223L	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	273						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TGGCCACTAAAAGAATCACCT	0.378000													20	53					0	0	0.010504	0	0
FHL1	2273	broad.mit.edu	37	X	135288739	135288739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:135288739G>A	ENST00000543669.1	+	2	859	c.148G>A	c.(148-150)Gac>Aac	p.D50N	FHL1_ENST00000370676.3_Missense_Mutation_p.D66N|FHL1_ENST00000370690.3_Missense_Mutation_p.D50N|FHL1_ENST00000345434.3_Missense_Mutation_p.D50N|FHL1_ENST00000394153.2_Missense_Mutation_p.D50N|FHL1_ENST00000370683.1_Missense_Mutation_p.D66N|FHL1_ENST00000535737.1_Missense_Mutation_p.D50N|FHL1_ENST00000394155.2_Missense_Mutation_p.D50N|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000539015.1_Missense_Mutation_p.D79N	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	50	LIM zinc-binding 1.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CATCGGTGCGGACTCCAAGGT	0.547000													63	125					0	0	0.014410	0	0
CTU1	90353	broad.mit.edu	37	19	51602387	51602387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:51602387G>A	ENST00000421832.2	-	3	562	c.518C>T	c.(517-519)gCc>gTc	p.A173V		NM_145232.3	NP_660275.2	Q7Z7A3	CTU1_HUMAN	cytosolic thiouridylase subunit 1	173					tRNA thio-modification|tRNA wobble uridine modification	cytosol	ATP binding|protein binding|transferase activity|tRNA binding			large_intestine(2)|lung(1)|urinary_tract(1)	4						CATGTCGTCGGCGTTGTGACC	0.756000													5	3					0	0	0.001984	0	0
C4orf27	54969	broad.mit.edu	37	4	170663204	170663204	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:170663204G>A	ENST00000393381.2	-	5	627	c.552C>T	c.(550-552)ctC>ctT	p.L184L		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	184						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		TGTTTTTCAAGAGATTGATTT	0.358000													21	58					0	0	0.012319	0	0
CUEDC1	404093	broad.mit.edu	37	17	55956975	55956975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:55956975G>A	ENST00000577830.1	-	3	874	c.461C>T	c.(460-462)cCc>cTc	p.P154L	CUEDC1_ENST00000577840.1_Missense_Mutation_p.P17L|CUEDC1_ENST00000407144.2_Missense_Mutation_p.P154L|CUEDC1_ENST00000360238.2_Missense_Mutation_p.P154L	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	154	Pro-rich.									endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						TTCTCACCGGGGAGGCGGAGT	0.607000													14	47					0	0	0.003163	0	0
MARCH4	57574	broad.mit.edu	37	2	217124116	217124116	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:217124116G>A	ENST00000273067.4	-	4	2918	c.1152C>T	c.(1150-1152)atC>atT	p.I384I		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	384						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		AGTGACTCAGGATGTGCAGGA	0.637000													32	20					0	0	0.013726	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018889	1018889	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:1018889C>T	ENST00000398484.2	+	8	1849	c.1269C>T	c.(1267-1269)gcC>gcT	p.A423A	FGFRL1_ENST00000504138.1_Silent_p.A423A|FGFRL1_ENST00000264748.6_Silent_p.A423A|FGFRL1_ENST00000510644.1_Silent_p.A423A			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	423					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGGGACGGCCCGCGACCGCA	0.741000													6	15					0	0	0.001168	0	0
DAB2	1601	broad.mit.edu	37	5	39382834	39382834	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:39382834C>T	ENST00000545653.1	-	9	1694	c.1164G>A	c.(1162-1164)caG>caA	p.Q388Q	DAB2_ENST00000320816.6_Silent_p.Q409Q|DAB2_ENST00000509337.1_Silent_p.Q388Q|DAB2_ENST00000339788.6_Intron	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	409					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTACGCCATTCTGTATGGACA	0.498000													42	58					0	0	0.013114	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711994	140711994	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140711994C>T	ENST00000517417.1	+	1	1743	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	PCDHGA1_ENST00000378105.3_Silent_p.S581S	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCCTCTCCGCAGAGCCCG	0.672000													54	86					0	0	0.014410	0	0
ATM	472	broad.mit.edu	37	11	108224518	108224518	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:108224518C>T	ENST00000278616.4	+	60	9082	c.8697C>T	c.(8695-8697)atC>atT	p.I2899I	ATM_ENST00000452508.2_Silent_p.I2899I|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2899	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGGGCAAAATCCTTCCTACTC	0.398000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			59	126					0	0	0.014410	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	163455	163455	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:163455C>T	ENST00000283426.6	+	11	2250	c.2200C>T	c.(2200-2202)Cag>Tag	p.Q734*		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	734					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CGAGATACCTCAGCCCGACAG	0.562000													51	92					0	0	0.014410	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49293278	49293278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:49293278G>A	ENST00000559471.1	-	15	2307	c.2044C>T	c.(2044-2046)Ctt>Ttt	p.L682F	SECISBP2L_ENST00000559122.1_5'UTR|SECISBP2L_ENST00000261847.3_Missense_Mutation_p.L637F	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	682										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TCTTTACAAAGAACCTGATTA	0.343000													9	29					0	0	0.004482	0	0
CACNA1A	773	broad.mit.edu	37	19	13476136	13476136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:13476136C>T	ENST00000360228.5	-	5	778	c.779G>A	c.(778-780)gGg>gAg	p.G260E	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G260E	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	260					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCTACCTGTCCCCTCTTCAAA	0.458000													58	66					0	0	0.014410	0	0
IL3RA	3563	broad.mit.edu	37	X	1497607	1497607	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:1497607C>T	ENST00000331035.4	+	10	1279	c.930C>T	c.(928-930)atC>atT	p.I310I	IL3RA_ENST00000381469.2_Silent_p.I232I	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	310						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CGCTGCTGATCGCGCTGGGGA	0.657000													16	37					0	0	0.010504	0	0
BCAN	63827	broad.mit.edu	37	1	156626126	156626126	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:156626126G>A	ENST00000329117.4	+	9	2331	c.1995G>A	c.(1993-1995)gaG>gaA	p.E665E	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	665	EGF-like.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGAGGAGGAGGAAGGGGTCC	0.647000													40	91					0	0	0.008740	0	0
CDIP1	29965	broad.mit.edu	37	16	4564078	4564078	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:4564078C>T	ENST00000399599.3	-	2	602	c.54G>A	c.(52-54)ctG>ctA	p.L18L	CDIP1_ENST00000562334.1_Silent_p.L18L|CDIP1_ENST00000564828.1_Intron|CDIP1_ENST00000567695.1_Silent_p.L18L|CDIP1_ENST00000563507.1_Silent_p.L18L|CDIP1_ENST00000563332.2_Silent_p.L18L					cell death-inducing p53 target 1																		TTTTCTCTTCCAGAAGTGGGG	0.607000													6	12					0	0	0.001984	0	0
ITGAL	3683	broad.mit.edu	37	16	30507602	30507602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:30507602C>T	ENST00000356798.6	+	14	1868	c.1688C>T	c.(1687-1689)cCc>cTc	p.P563L	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.P480L	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	563					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GGGCTTAGTCCCCAGCCAAGT	0.632000													27	69					0	0	0.005443	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553530	140553530	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140553530G>A	ENST00000231137.3	+	1	1288	c.1114G>A	c.(1114-1116)Gac>Aac	p.D372N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		372	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAGGATTAGAGACAGAGATTC	0.468000													22	29					0	0	0.010504	0	0
HOXD3	3232	broad.mit.edu	37	2	177034231	177034231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:177034231C>T	ENST00000468418.3	+	3	2479	c.389C>T	c.(388-390)tCa>tTa	p.S130L	HOXD3_ENST00000249440.3_Missense_Mutation_p.S130L|HOXD3_ENST00000410016.1_Missense_Mutation_p.S130L			P31249	HXD3_HUMAN	homeobox D3	130					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		cccccatcttcacccACCAAT	0.627000													12	20					0	0	0.001855	0	0
OR4D10	390197	broad.mit.edu	37	11	59245616	59245616	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:59245616C>T	ENST00000530162.1	+	1	771	c.714C>T	c.(712-714)tcC>tcT	p.S238S		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGCCATCTCCACCTGCACCT	0.542000													63	97					0	0	0.014410	0	0
PTGER1	5731	broad.mit.edu	37	19	14583574	14583574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:14583574G>A	ENST00000292513.3	-	3	1124	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V		NM_000955.2	NP_000946.2	P34995	PE2R1_HUMAN	prostaglandin E receptor 1 (subtype EP1), 42kDa	336						integral to plasma membrane	prostaglandin E receptor activity									Alprostadil(DB00770)|Bimatoprost(DB00905)|Bupivacaine(DB00297)|Carboprost Tromethamine(DB00429)	AAGGCGCACGGCCAGGAACAG	0.677000													3	5					0	0	0.004672	0	0
KIAA0922	23240	broad.mit.edu	37	4	154517466	154517466	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:154517466G>T	ENST00000409663.3	+	20	2101	c.2049G>T	c.(2047-2049)ttG>ttT	p.L683F	KIAA0922_ENST00000440693.1_Missense_Mutation_p.L600F|KIAA0922_ENST00000409959.3_Missense_Mutation_p.L684F	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	683						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGCAGCCTTTGGAAATGAAAA	0.423000													37	99					3.66854e-30	3.80171e-30	0.007835	1	0
CACNA1S	779	broad.mit.edu	37	1	201035039	201035039	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:201035039G>A	ENST00000362061.3	-	22	3006	c.2780C>T	c.(2779-2781)aCc>aTc	p.T927I	CACNA1S_ENST00000367338.3_Missense_Mutation_p.T927I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	927					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GTTCCCGATGGTGCTGATGGC	0.617000													6	19					0	0	0.001168	0	0
BCOR	54880	broad.mit.edu	37	X	39923709	39923709	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:39923709G>A	ENST00000342274.4	-	7	3744	c.3382C>T	c.(3382-3384)Ccc>Tcc	p.P1128S	BCOR_ENST00000378444.4_Missense_Mutation_p.P1128S|BCOR_ENST00000378463.1_Missense_Mutation_p.P5S|BCOR_ENST00000378455.4_Missense_Mutation_p.P1110S|BCOR_ENST00000397354.3_Missense_Mutation_p.P1128S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1128					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CGGAGGGTGGGGCTGTGAGGC	0.607000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						18	60					0	0	0.006122	0	0
SNX1	6642	broad.mit.edu	37	15	64410326	64410326	+	Silent	SNP	G	G	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:64410326G>T	ENST00000353874.4	+	3	318	c.282G>T	c.(280-282)gtG>gtT	p.V94V	SNX1_ENST00000261889.5_Silent_p.V94V|SNX1_ENST00000561026.1_Intron|SNX1_ENST00000560829.1_5'UTR|SNX1_ENST00000559844.1_Silent_p.V94V			Q13596	SNX1_HUMAN	sorting nexin 1	94					cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						ATGCCACAGTGGAGCTATCCT	0.393000													44	60					6.21074e-16	6.39975e-16	0.011902	1	0
EGFLAM	133584	broad.mit.edu	37	5	38406258	38406258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:38406258G>A	ENST00000322350.5	+	7	1089	c.743G>A	c.(742-744)gGa>gAa	p.G248E	EGFLAM_ENST00000354891.3_Missense_Mutation_p.G248E|EGFLAM_ENST00000336740.6_Missense_Mutation_p.G14E|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	248						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGCCGCTATGGACCCCGTTAT	0.478000													22	34					0	0	0.003330	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744915	135744915	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:135744915C>T	ENST00000375845.3	-	7	1557	c.1527G>A	c.(1525-1527)aaG>aaA	p.K509K	MAP3K19_ENST00000392915.1_Silent_p.K526K|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Silent_p.K396K	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GAATGGTTCCCTTTCTTGTTT	0.438000													32	22					0	0	0.008361	0	0
ZNF721	170960	broad.mit.edu	37	4	437664	437664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:437664G>A	ENST00000338977.5	-	2	604	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.R198C|ZNF721_ENST00000506646.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GCTCTGTCACGATCTTCACCT	0.373000													20	47					0	0	0.008871	0	0
GPR98	84059	broad.mit.edu	37	5	89953946	89953946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:89953946G>A	ENST00000405460.2	+	21	4699	c.4603G>A	c.(4603-4605)Gag>Aag	p.E1535K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1535	Calx-beta 10.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGACAATGACGAGGAAGGAGA	0.358000													46	80					0	0	0.014410	0	0
FAM47A	158724	broad.mit.edu	37	X	34150173	34150173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:34150173C>T	ENST00000346193.3	-	1	274	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	75										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGTAAAAACTCGTCACGGCGA	0.532000													41	90					0	0	0.011902	0	0
OR2G3	81469	broad.mit.edu	37	1	247769793	247769793	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:247769793G>A	ENST00000320002.2	+	1	938	c.906G>A	c.(904-906)agG>agA	p.R302R	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGGCTCTGAGGAAACTTCTCT	0.393000													43	63					0	0	0.011902	0	0
FAT3	120114	broad.mit.edu	37	11	92088413	92088413	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:92088413C>G	ENST00000298047.6	+	1	3152	c.3135C>G	c.(3133-3135)gaC>gaG	p.D1045E	FAT3_ENST00000525166.1_Missense_Mutation_p.D895E|FAT3_ENST00000409404.2_Missense_Mutation_p.D1045E|FAT3_ENST00000541502.1_Missense_Mutation_p.D1045E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1045	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTTCCCAGACTTTGCTGTTG	0.498000										TCGA Ovarian(4;0.039)			47	78					0	0	0.014410	0	0
TP53BP2	7159	broad.mit.edu	37	1	224002017	224002017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:224002017G>A	ENST00000343537.7	-	3	505	c.214C>T	c.(214-216)Ctt>Ttt	p.L72F	TP53BP2_ENST00000391878.2_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	66					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AATCGTTGAAGAACATCAAAC	0.418000													46	82					0	0	0.014410	0	0
SLC6A13	6540	broad.mit.edu	37	12	352917	352917	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:352917C>A	ENST00000343164.4	-	3	317	c.265G>T	c.(265-267)Gag>Tag	p.E89*	SLC6A13_ENST00000445055.2_Intron	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	89					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AGTGCTGTCTCCAGAAGGAAG	0.527000													21	21					7.45023e-12	7.65528e-12	0.010504	1	0
GRM3	2913	broad.mit.edu	37	7	86416311	86416311	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:86416311C>T	ENST00000361669.2	+	3	2302	c.1203C>T	c.(1201-1203)gcC>gcT	p.A401A	GRM3_ENST00000536043.1_Silent_p.A273A|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.A401A|GRM3_ENST00000394720.2_Silent_p.A399A	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	401					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATGCCATGGCCCACGCTTTGC	0.522000													100	94					0	0	0.014410	0	0
ASXL3	80816	broad.mit.edu	37	18	31319124	31319124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:31319124G>A	ENST00000269197.5	+	11	1756	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTTTCCAAATGAAGGAATTGC	0.438000													13	21					0	0	0.013537	0	0
OR51T1	401665	broad.mit.edu	37	11	4903118	4903118	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:4903118C>G	ENST00000380378.1	+	1	70	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTTCAGTGTCTTCAACCAAC	0.333000													15	45					0	0	0.004007	0	0
BSN	8927	broad.mit.edu	37	3	49680263	49680263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:49680263C>T	ENST00000296452.4	+	3	1310	c.1196C>T	c.(1195-1197)cCc>cTc	p.P399L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	399					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGCCCAAAACCCTTGGGCTCA	0.637000													18	57					0	0	0.010504	0	0
ST18	9705	broad.mit.edu	37	8	53076592	53076592	+	Nonsense_Mutation	SNP	G	G	A	rs149497456	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:53076592G>A	ENST00000276480.7	-	13	2037	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	452						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAATCAAGCTGATTTTTATCC	0.448000													42	72					0	0	0.014410	0	0
CLCN1	1180	broad.mit.edu	37	7	143048851	143048851	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:143048851G>A	ENST00000343257.2	+	23	2847	c.2760G>A	c.(2758-2760)ggG>ggA	p.G920G		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	920					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTGGAACAGGGGATGTGATTG	0.622000													35	38					0	0	0.004289	0	0
GRM4	2914	broad.mit.edu	37	6	34024435	34024435	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:34024435T>A	ENST00000374181.3	-	5	1223	c.1054A>T	c.(1054-1056)Acg>Tcg	p.T352S	GRM4_ENST00000374177.3_Intron|GRM4_ENST00000538487.1_Missense_Mutation_p.T352S|GRM4_ENST00000544773.1_Missense_Mutation_p.T183S|GRM4_ENST00000545715.1_Missense_Mutation_p.T44S|GRM4_ENST00000535756.1_Missense_Mutation_p.T219S|GRM4_ENST00000455714.2_Missense_Mutation_p.T212S	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	352					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TTGTCCAGCGTGCGGCTGGAG	0.652000													7	22					0	0	0.004482	0	0
OSBP2	23762	broad.mit.edu	37	22	31286931	31286931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:31286931G>A	ENST00000332585.6	+	8	1944	c.1840G>A	c.(1840-1842)Gac>Aac	p.D614N	OSBP2_ENST00000437268.2_Missense_Mutation_p.D356N|OSBP2_ENST00000446658.2_Missense_Mutation_p.D613N|OSBP2_ENST00000403222.3_Missense_Mutation_p.D448N|OSBP2_ENST00000382310.3_Missense_Mutation_p.D565N|OSBP2_ENST00000535268.1_Missense_Mutation_p.D158N|OSBP2_ENST00000401475.1_Missense_Mutation_p.D247N|OSBP2_ENST00000407373.1_Missense_Mutation_p.D441N	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	614					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CCGCCTCGACGACATGGGCCT	0.667000											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	32					0	0	0.010504	0	0
TCF3	6929	broad.mit.edu	37	19	1615702	1615702	+	Silent	SNP	G	G	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:1615702G>T	ENST00000262965.5	-	17	1913	c.1569C>A	c.(1567-1569)gcC>gcA	p.A523A	TCF3_ENST00000588136.1_Silent_p.A523A|TCF3_ENST00000395423.3_Silent_p.A472A|TCF3_ENST00000344749.5_Silent_p.A523A|TCF3_ENST00000453954.2_Silent_p.A439A	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	523					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCCGGGGGGCCTTCAGCT	0.682000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								32	49					4.65686e-17	4.80198e-17	0.003755	1	0
MUC17	140453	broad.mit.edu	37	7	100687065	100687065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:100687065C>T	ENST00000306151.4	+	3	12432	c.12368C>T	c.(12367-12369)cCc>cTc	p.P4123L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4123						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGAGCAACCCCACCTCAACT	0.458000													51	72					0	0	0.014410	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148695858	148695858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:148695858C>T	ENST00000296721.4	+	11	1357	c.1259C>T	c.(1258-1260)cCc>cTc	p.P420L	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.P420L	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	420	PH 2.						protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGAGGTTCCCTGCTGTGGT	0.642000													28	60					0	0	0.008361	0	0
SLC25A4	291	broad.mit.edu	37	4	186066010	186066010	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:186066010C>T	ENST00000281456.5	+	2	336	c.204C>T	c.(202-204)ctC>ctT	p.L68L	SLC25A4_ENST00000515584.1_3'UTR	NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	68					energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	AGGGCTTCCTCTCCTTCTGGA	0.527000													49	79					0	0	0.014410	0	0
CES5A	221223	broad.mit.edu	37	16	55890354	55890354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:55890354C>T	ENST00000521992.1	-	10	1292	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	CES5A_ENST00000520435.1_Missense_Mutation_p.E324K|CES5A_ENST00000518005.1_Missense_Mutation_p.E248K|CES5A_ENST00000319165.9_Missense_Mutation_p.E354K|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000290567.9_Missense_Mutation_p.E354K	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	354						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCAGGAGCCTCCTTCTGTGGA	0.547000													40	22					0	0	0.007835	0	0
TGFBR2	7048	broad.mit.edu	37	3	30733069	30733069	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:30733069G>A	ENST00000295754.5	+	7	2064	c.1682G>A	c.(1681-1683)gGc>gAc	p.G561D	TGFBR2_ENST00000359013.4_Missense_Mutation_p.G586D	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	561					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCTGAAGACGGCTCCCTAAAC	0.592000													26	51					0	0	0.003954	0	0
FBXO33	254170	broad.mit.edu	37	14	39870725	39870725	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:39870725G>A	ENST00000298097.7	-	3	1388	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	351										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		ATGTTGTCCAGAGACTTGTGC	0.428000													44	65					0	0	0.014410	0	0
OR13C8	138802	broad.mit.edu	37	9	107331456	107331456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:107331456G>A	ENST00000335040.1	+	1	8	c.8G>A	c.(7-9)aGg>aAg	p.R3K		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AATATGGAAAGGACCAACGAT	0.398000													48	22					0	0	0.014410	0	0
NGB	58157	broad.mit.edu	37	14	77732890	77732890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:77732890C>T	ENST00000298352.4	-	4	819	c.445G>A	c.(445-447)Gat>Aat	p.D149N		NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	149	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		TACTCGCCATCCCAGCCTCGA	0.637000													25	50					0	0	0.006320	0	0
NEB	4703	broad.mit.edu	37	2	152507370	152507370	+	Silent	SNP	T	T	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:152507370T>C	ENST00000397345.3	-	53	7147	c.6945A>G	c.(6943-6945)caA>caG	p.Q2315Q	NEB_ENST00000603639.1_Silent_p.Q2315Q|NEB_ENST00000409198.1_Silent_p.Q2315Q|NEB_ENST00000172853.10_Silent_p.Q2315Q|NEB_ENST00000427231.2_Silent_p.Q2315Q|NEB_ENST00000604864.1_Silent_p.Q2315Q	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2315					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGTGGCCAAGTTGCTTTCGGT	0.398000													70	48					0	0	0.014410	0	0
OR52N4	390072	broad.mit.edu	37	11	5776099	5776099	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:5776099G>A	ENST00000317254.3	+	1	177	c.129G>A	c.(127-129)ggG>ggA	p.G43G	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTATGGTAGGGAATTGTGGAC	0.453000													31	65					0	0	0.003271	0	0
SDK1	221935	broad.mit.edu	37	7	4185359	4185359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:4185359C>T	ENST00000404826.2	+	29	4373	c.4234C>T	c.(4234-4236)Cag>Tag	p.Q1412*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.Q1412*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1412	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGCAGGGTACCAGATTGCCTA	0.672000													23	87					0	0	0.014323	0	0
DRD5	1816	broad.mit.edu	37	4	9783859	9783859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:9783859G>A	ENST00000304374.2	+	1	602	c.206G>A	c.(205-207)cGc>cAc	p.R69H		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	69					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GTGCGGAGCCGCCACCTGCGC	0.647000													12	24					0	0	0.010729	0	0
NBEA	26960	broad.mit.edu	37	13	36220454	36220454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:36220454C>T	ENST00000540320.1	+	50	8210	c.7676C>T	c.(7675-7677)cCa>cTa	p.P2559L	NBEA_ENST00000310336.4_Missense_Mutation_p.P2559L|NBEA_ENST00000379939.2_Missense_Mutation_p.P2556L|NBEA_ENST00000379922.3_Missense_Mutation_p.P137L|NBEA_ENST00000537702.1_Missense_Mutation_p.P352L|NBEA_ENST00000400445.3_Missense_Mutation_p.P2559L			Q8NFP9	NBEA_HUMAN	neurobeachin	2559	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTATTGAGCCACATCCGCCT	0.443000													15	35					0	0	0.006122	0	0
ANXA11	311	broad.mit.edu	37	10	81928751	81928751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:81928751C>T	ENST00000438331.1	-	6	1017	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	ANXA11_ENST00000265447.4_Missense_Mutation_p.V179I|ANXA11_ENST00000372231.3_Missense_Mutation_p.V179I|ANXA11_ENST00000537102.1_Missense_Mutation_p.V146I|ANXA11_ENST00000360615.4_Missense_Mutation_p.V179I|ANXA11_ENST00000535999.1_Missense_Mutation_p.V179I|ANXA11_ENST00000422982.3_Missense_Mutation_p.V179I	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	179					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GCGGGGGTGACAGTCCCAGAC	0.662000													5	3					0	0	0.001168	0	0
IGHV2-70	28454	broad.mit.edu	37	14	107178915	107178915	+	RNA	SNP	G	G	A	rs117736733	by1000genomes	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:107178915G>A	ENST00000390634.2	-	0	337																											GAGATGGTGAGCCTGGTCTTC	0.517000													49	137					0	0	0.014410	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008617	88008617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:88008617G>A	ENST00000276127.4	+	3	461	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	CPXCR1_ENST00000373111.1_Missense_Mutation_p.E68K	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	68						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TCAAGCAGCAGAAAACAGCGA	0.448000													12	21					0	0	0.010729	0	0
AGBL1	123624	broad.mit.edu	37	15	86807793	86807793	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:86807793A>G	ENST00000441037.2	+	10	1348	c.1253A>G	c.(1252-1254)aAa>aGa	p.K418R	AGBL1_ENST00000421325.2_Missense_Mutation_p.K418R|AGBL1_ENST00000389298.3_Missense_Mutation_p.K149R	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	418					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCTTCCCCGAAAGCAGATGCC	0.423000													72	77					0	0	0.014410	0	0
ZNF721	170960	broad.mit.edu	37	4	435898	435898	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:435898A>C	ENST00000338977.5	-	2	2370	c.2322T>G	c.(2320-2322)tgT>tgG	p.C774W	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.C786W|ZNF721_ENST00000506646.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TGACTTTGCCACATTCCTTAC	0.358000													14	27					0	0	0.002450	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711777	140711777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140711777C>T	ENST00000517417.1	+	1	1526	c.1526C>T	c.(1525-1527)tCc>tTc	p.S509F	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.S509F	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCATCAACTCCGACACTGGG	0.562000													73	126					0	0	0.014410	0	0
DMRTB1	63948	broad.mit.edu	37	1	53925647	53925647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:53925647C>T	ENST00000371445.3	+	1	576	c.521C>T	c.(520-522)cCc>cTc	p.P174L		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	174	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						TACCCTGGCCCCCTAGACCTG	0.716000													6	8					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9072091	9072091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:9072091G>A	ENST00000397910.4	-	3	15558	c.15355C>T	c.(15355-15357)Cct>Tct	p.P5119S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5121	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTATAGAAGGAAAAATTTCC	0.453000													38	73					0	0	0.004289	0	0
SEPP1	6414	broad.mit.edu	37	5	42801054	42801054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:42801054C>T	ENST00000514985.1	-	5	1170	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000507920.1_3'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.R305Q|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000511224.1_Missense_Mutation_p.R305Q	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	305					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						TATCAGATGTCGACAATGGCA	0.428000													36	91					0	0	0.009718	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33060668	33060668	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:33060668G>A	ENST00000373510.4	+	4	1066	c.837G>A	c.(835-837)cgG>cgA	p.R279R	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Silent_p.R279R	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						ATCTGCCTCGGATGCGATTCA	0.458000													18	28					0	0	0.006122	0	0
THOC2	57187	broad.mit.edu	37	X	122747528	122747528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:122747528G>A	ENST00000245838.8	-	35	4512	c.4481C>T	c.(4480-4482)cCg>cTg	p.P1494L	THOC2_ENST00000464992.1_5'UTR|THOC2_ENST00000491737.1_Missense_Mutation_p.P1379L|THOC2_ENST00000355725.4_Missense_Mutation_p.P1494L	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1494	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GGTTAAGTCCGGTGGCACTTC	0.373000													91	189					0	0	0.014410	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89416905	89416905	+	RNA	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:89416905G>A	ENST00000490686.1	-	0	305																											TTGTGAGAGTGAATTCTGTCC	0.483000													29	82					0	0	0.008740	0	0
ECE2	9718	broad.mit.edu	37	3	184008046	184008046	+	Missense_Mutation	SNP	G	G	A	rs142884324	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:184008046G>A	ENST00000402825.3	+	14	1909	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	ECE2_ENST00000404464.3_Missense_Mutation_p.E519K|ECE2_ENST00000359140.4_Missense_Mutation_p.E490K|ECE2_ENST00000357474.5_Missense_Mutation_p.E565K|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	637	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCACAGTACGAAATTTCTGA	0.448000													12	14					0	0	0.013537	0	0
EZH2	2146	broad.mit.edu	37	7	148508728	148508728	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:148508728A>T	ENST00000320356.2	-	16	2057	c.1936T>A	c.(1936-1938)Tac>Aac	p.Y646N	EZH2_ENST00000350995.2_Missense_Mutation_p.Y602N|EZH2_ENST00000541220.1_Missense_Mutation_p.Y590N|EZH2_ENST00000478654.1_Missense_Mutation_p.Y590N|EZH2_ENST00000476773.1_Missense_Mutation_p.Y590N|EZH2_ENST00000483967.1_Missense_Mutation_p.Y632N|EZH2_ENST00000460911.1_Missense_Mutation_p.Y641N	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	641	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.Y646N(51)|p.Y646H(19)|p.Y602N(14)|p.Y602H(6)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCTCCACAGTATTCTGAGATG	0.383000			Mis		DLBCL								31	43					0	0	0.009535	0	0
TCEAL1	9338	broad.mit.edu	37	X	102884995	102884995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:102884995G>A	ENST00000372625.3	+	3	315	c.151G>A	c.(151-153)Gag>Aag	p.E51K	TCEAL1_ENST00000372624.3_Missense_Mutation_p.E51K|TCEAL1_ENST00000372626.3_Missense_Mutation_p.E51K|TCEAL1_ENST00000469820.1_3'UTR	NM_001006639.1|NM_004780.2	NP_001006640.1|NP_004771.2	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	54	Arg/Ser-rich.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GTTCTTTCCTGAGGAGCTCTT	0.637000													16	20					0	0	0.004990	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711993	140711993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140711993C>T	ENST00000517417.1	+	1	1742	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.S581F	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCCCTCTCCGCAGAGCCC	0.672000													55	86					0	0	0.014410	0	0
OR2J2	26707	broad.mit.edu	37	6	29142225	29142225	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:29142225G>A	ENST00000377167.2	+	1	915	c.813G>A	c.(811-813)caG>caA	p.Q271Q		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTCCTGATCAGGGCAAGTTCA	0.433000													100	78					0	0	0.014410	0	0
ROBO2	6092	broad.mit.edu	37	3	77638082	77638082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:77638082C>T	ENST00000461745.1	+	17	3581	c.2681C>T	c.(2680-2682)gCt>gTt	p.A894V	ROBO2_ENST00000332191.8_Missense_Mutation_p.A894V|ROBO2_ENST00000487694.3_Missense_Mutation_p.A910V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	894					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGTAATTATGCTGGTAAGTGA	0.393000													29	46					0	0	0.007291	0	0
OR56A4	120793	broad.mit.edu	37	11	6023742	6023742	+	Missense_Mutation	SNP	G	G	A	rs138873327		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:6023742G>A	ENST00000330728.4	-	1	682	c.637C>T	c.(637-639)Cct>Tct	p.P213S		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P213S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGGAACAGGAAGAGAAACA	0.483000													15	37					0	0	0.002450	0	0
SRL	6345	broad.mit.edu	37	16	4254583	4254583	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:4254583G>A	ENST00000399609.3	-	2	126	c.114C>T	c.(112-114)atC>atT	p.I38I	SRL_ENST00000537996.1_5'UTR	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	497	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GGGTCTTCTCGATGTGGGAGC	0.572000													37	69					0	0	0.007835	0	0
SHROOM4	57477	broad.mit.edu	37	X	50339751	50339751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:50339751C>T	ENST00000376020.2	-	9	4451	c.4426G>A	c.(4426-4428)Gaa>Aaa	p.E1476K	SHROOM4_ENST00000289292.7_Missense_Mutation_p.E1476K|SHROOM4_ENST00000460112.3_Missense_Mutation_p.E1360K	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1476	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AGTTGCTCTTCCCCGAGCTTG	0.527000													22	31					0	0	0.012319	0	0
SLC34A2	10568	broad.mit.edu	37	4	25669591	25669591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:25669591G>A	ENST00000382051.3	+	6	663	c.613G>A	c.(613-615)Gga>Aga	p.G205R	SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000504570.1_Missense_Mutation_p.G204R|SLC34A2_ENST00000503434.1_Missense_Mutation_p.G204R	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	205					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CATGCAGGTGGGAGATCGGAG	0.507000			T	ROS1	NSCLC								12	32					0	0	0.001855	0	0
HERC1	8925	broad.mit.edu	37	15	63970328	63970328	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:63970328C>G	ENST00000443617.2	-	37	6873	c.6786G>C	c.(6784-6786)caG>caC	p.Q2262H	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2262					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCTCTCGGCTCTGAACCGAGC	0.433000													18	35					0	0	0.006122	0	0
ASRGL1	80150	broad.mit.edu	37	11	62159693	62159693	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:62159693C>T	ENST00000415229.2	+	7	1079	c.864C>T	c.(862-864)gcC>gcT	p.A288A	CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000301776.5_Silent_p.A288A	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	288					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	GGGCAGCCGCCAAGGACGGCA	0.527000											OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	51					0	0	0.009535	0	0
GUSB	2990	broad.mit.edu	37	7	65441055	65441055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:65441055G>A	ENST00000304895.4	-	5	989	c.859C>T	c.(859-861)Ctc>Ttc	p.L287F	GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000421103.1_Intron|GUSB_ENST00000345660.6_Missense_Mutation_p.L287F	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	287					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GGCCACCAGAGGCTGACACCT	0.532000													45	45					0	0	0.014410	0	0
IGLL1	3543	broad.mit.edu	37	22	23915531	23915531	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:23915531G>A	ENST00000330377.2	-	3	681	c.564C>T	c.(562-564)tcC>tcT	p.S188S	AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	188	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						AGCTTCTGCGGGACCTCCACT	0.632000													36	62					0	0	0.003271	0	0
CAST	831	broad.mit.edu	37	5	96073640	96073640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:96073640C>T	ENST00000395813.1	+	11	973	c.787C>T	c.(787-789)Cca>Tca	p.P263S	CAST_ENST00000508830.1_Missense_Mutation_p.P263S|CAST_ENST00000510756.1_Missense_Mutation_p.P241S|CAST_ENST00000309190.5_Missense_Mutation_p.P158S|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000359176.4_Missense_Mutation_p.P244S|CAST_ENST00000338252.3_Missense_Mutation_p.P180S|CAST_ENST00000325674.7_Missense_Mutation_p.P241S|CAST_ENST00000395812.2_Missense_Mutation_p.P222S|CAST_ENST00000511049.1_Missense_Mutation_p.P166S|CAST_ENST00000511782.1_Missense_Mutation_p.P166S|CAST_ENST00000504465.1_Missense_Mutation_p.P108S|CAST_ENST00000341926.3_Missense_Mutation_p.P180S|CAST_ENST00000509903.1_Missense_Mutation_p.P158S|CAST_ENST00000508608.1_Missense_Mutation_p.P226S			P20810	ICAL_HUMAN	calpastatin	180							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GTATACTGGACCAGAAGTTTC	0.383000													45	66					0	0	0.013114	0	0
VEGFB	7423	broad.mit.edu	37	11	64004989	64004989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:64004989C>T	ENST00000309422.2	+	6	804	c.508C>T	c.(508-510)Cca>Tca	p.P170S	VEGFB_ENST00000426086.2_Intron	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	170					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						CCATCCCACTCCAGCCCCAGG	0.726000													12	35					0	0	0.010729	0	0
NBPF1	55672	broad.mit.edu	37	1	16891330	16891330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:16891330C>T	ENST00000430580.2	-	28	4035	c.3148G>A	c.(3148-3150)Gaa>Aaa	p.E1050K		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1030	NBPF 7.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGAtcttcttccccttctttt	0.433000													12	357					0	0	0.001855	0	0
C16orf11	146325	broad.mit.edu	37	16	615297	615297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:615297C>T	ENST00000409413.3	+	3	1985	c.1706C>T	c.(1705-1707)gCc>gTc	p.A569V		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	569										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCCCAGGGCGCCGAGGTCTGA	0.682000													9	8					0	0	0.008291	0	0
IREB2	3658	broad.mit.edu	37	15	78764257	78764257	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:78764257C>T	ENST00000258886.8	+	7	1023	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	IREB2_ENST00000560440.1_Silent_p.L292L	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	292							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTTAGGGATTCTGGGGTGGGG	0.368000													17	60					0	0	0.006122	0	0
MED25	81857	broad.mit.edu	37	19	50335672	50335672	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:50335672C>T	ENST00000312865.6	+	13	1535	c.1482_splice	c.e13+1	p.F494_splice	MED25_ENST00000538643.1_Splice_Site_p.F281_splice	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	494	Interaction with CREBBP.|Interaction with VP16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCAACGGCTTCGTGAGTCCAG	0.587000													4	11					0	0	0.000602	0	0
DSP	1832	broad.mit.edu	37	6	7583978	7583978	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:7583978C>T	ENST00000379802.3	+	24	6824	c.6483C>T	c.(6481-6483)tcC>tcT	p.S2161S	DSP_ENST00000418664.2_Silent_p.S1562S	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2161	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGTATCGATCCCTGAATGATC	0.483000													24	79					0	0	0.003954	0	0
ATP12A	479	broad.mit.edu	37	13	25283956	25283956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:25283956G>A	ENST00000218548.6	+	19	3104	c.2771G>A	c.(2770-2772)gGg>gAg	p.G924E	ATP12A_ENST00000381946.3_Missense_Mutation_p.G918E	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	918					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GACAGCTATGGGCAGGAATGG	0.537000													40	97					0	0	0.009718	0	0
FGD2	221472	broad.mit.edu	37	6	36976693	36976693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:36976693C>T	ENST00000274963.8	+	2	323	c.152C>T	c.(151-153)cCa>cTa	p.P51L		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	51					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TCCCCAGGACCACGGGAGAAG	0.632000													61	48					0	0	0.014410	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090911	115090911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:115090911C>T	ENST00000361283.1	+	3	1903	c.1594C>T	c.(1594-1596)Ccc>Tcc	p.P532S		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	532	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										TGCCCTGTTTCCCGAGCCTGC	0.557000													112	310					0	0	0.014410	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013023	73013023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:73013023C>T	ENST00000308744.6	+	4	1161	c.1063C>T	c.(1063-1065)Cac>Tac	p.H355Y	NPFFR2_ENST00000358749.3_Missense_Mutation_p.H253Y|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.H256Y	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	355					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TGCAGTTCCTCACACAGGCAG	0.502000													26	46					0	0	0.003954	0	0
ALMS1	7840	broad.mit.edu	37	2	73675962	73675962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:73675962C>T	ENST00000264448.6	+	8	2416	c.2305C>T	c.(2305-2307)Cct>Tct	p.P769S	ALMS1_ENST00000409009.1_Missense_Mutation_p.P727S|ALMS1_ENST00000377715.1_Missense_Mutation_p.P769S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	769	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAGAGAAAAGCCTAGTATTTT	0.468000													73	170					0	0	0.014410	0	0
PINK1	65018	broad.mit.edu	37	1	20964371	20964371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:20964371C>T	ENST00000321556.4	+	2	518	c.424C>T	c.(424-426)Ccg>Tcg	p.P142S		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	142					cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGGCCTGACCCGTTGGACAC	0.542000													19	21					0	0	0.008871	0	0
PI16	221476	broad.mit.edu	37	6	36929703	36929703	+	Missense_Mutation	SNP	C	C	T	rs139815357	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:36929703C>T	ENST00000373674.3	+	4	873	c.545C>T	c.(544-546)cCg>cTg	p.P182L		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	182						extracellular region|integral to membrane	peptidase inhibitor activity	p.P182Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGGGGACTCCGTGCTCCCAA	0.642000													35	115					0	0	0.005524	0	0
CPED1	79974	broad.mit.edu	37	7	120911434	120911434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:120911434G>A	ENST00000310396.5	+	22	3285	c.2818G>A	c.(2818-2820)Ggg>Agg	p.G940R		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TATAACAATGGGGCGTTACAA	0.348000													37	134					0	0	0.008740	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57987900	57987900	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:57987900C>T	ENST00000354947.5	+	2	283	c.267C>T	c.(265-267)ttC>ttT	p.F89F	PIP4K2C_ENST00000422156.3_Silent_p.F89F|PIP4K2C_ENST00000550465.1_Intron|PIP4K2C_ENST00000540759.2_Silent_p.F89F			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	89	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					ATCACCTTTTCCACAGGTAAG	0.428000													11	29					0	0	0.010729	0	0
ASAP2	8853	broad.mit.edu	37	2	9541481	9541481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:9541481G>A	ENST00000281419.3	+	27	3242	c.2902G>A	c.(2902-2904)Ggg>Agg	p.G968R	ASAP2_ENST00000315273.4_Missense_Mutation_p.G923R	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	968	SH3.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CTTCTCCGAGGGGGATGTGAT	0.612000													24	39					0	0	0.002780	0	0
DSG3	1830	broad.mit.edu	37	18	29049253	29049253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:29049253C>T	ENST00000257189.4	+	12	1921	c.1838C>T	c.(1837-1839)tCa>tTa	p.S613L		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	613					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGCCGCACTCAGGGAGGCTG	0.592000													25	52					0	0	0.003330	0	0
SLC1A2	6506	broad.mit.edu	37	11	35313843	35313843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:35313843G>A	ENST00000278379.3	-	7	1364	c.1082C>T	c.(1081-1083)aCc>aTc	p.T361I	SLC1A2_ENST00000395750.1_Missense_Mutation_p.T352I|SLC1A2_ENST00000606205.1_Missense_Mutation_p.T361I|SLC1A2_ENST00000395753.1_Missense_Mutation_p.T352I	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	361					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	CCTGGAAGCGGTGCCCAGGGC	0.458000													78	151					0	0	0.014410	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795883	100795883	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:100795883G>A	ENST00000361529.3	+	6	906	c.828G>A	c.(826-828)aaG>aaA	p.K276K	SLC25A47_ENST00000557052.1_Silent_p.K130K	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	276					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						TCCTTTTCAAGGGGCTGGTAC	0.637000													41	69					0	0	0.006230	0	0
BCORL1	63035	broad.mit.edu	37	X	129173184	129173184	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:129173184C>T	ENST00000540052.1	+	9	4589	c.4545C>T	c.(4543-4545)ccC>ccT	p.P1515P	BCORL1_ENST00000303743.5_Silent_p.P1589P|BCORL1_ENST00000359304.2_Silent_p.P1385P|BCORL1_ENST00000218147.7_Silent_p.P1515P	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1515					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGGCCGATCCCACACTGGCTA	0.557000													17	52					0	0	0.006122	0	0
TMEM164	84187	broad.mit.edu	37	X	109414665	109414665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:109414665C>T	ENST00000372073.1	+	6	940	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000372068.2_Missense_Mutation_p.P202S|TMEM164_ENST00000288381.4_Missense_Mutation_p.P163S|TMEM164_ENST00000372072.3_Missense_Mutation_p.P53S			Q5U3C3	TM164_HUMAN	transmembrane protein 164	202						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						CACTCCAGAGCCCCTCAGCAG	0.522000													163	306					0	0	0.014410	0	0
MXRA5	25878	broad.mit.edu	37	X	3229630	3229630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:3229630G>A	ENST00000217939.6	-	7	6768	c.6614C>T	c.(6613-6615)aCc>aTc	p.T2205I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2205	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CACCACCAGGGTCCCATTGGC	0.448000													42	75					0	0	0.013114	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128990004	128990004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:128990004C>T	ENST00000274487.4	+	14	2309	c.2164C>T	c.(2164-2166)Cca>Tca	p.P722S	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	722	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGTAGAAAAACCATGTGCCTT	0.318000													20	55					0	0	0.012319	0	0
OR8S1	341568	broad.mit.edu	37	12	48920064	48920064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:48920064C>T	ENST00000310194.1	+	1	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GTCTTCTTATCCTACACCCGT	0.532000													29	68					0	0	0.007291	0	0
EDAR	10913	broad.mit.edu	37	2	109513555	109513555	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:109513555C>T	ENST00000409271.1	-	12	1694	c.1251G>A	c.(1249-1251)agG>agA	p.R417R	EDAR_ENST00000376651.1_Silent_p.R417R|EDAR_ENST00000258443.2_Silent_p.R385R			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	385	Death.				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CAATCTCATCCCTCTTCAGGC	0.562000													20	8					0	0	0.012319	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482101	76482101	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:76482101T>C	ENST00000307431.8	+	6	1113	c.728T>C	c.(727-729)cTt>cCt	p.L243P	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L219P|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.L247P|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L243P	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	244	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTCTTTTTACTTATTAATTCA	0.353000													16	12					0	0	0.004007	0	0
SKA3	221150	broad.mit.edu	37	13	21746782	21746782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:21746782G>A	ENST00000314759.5	-	2	266	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	SKA3_ENST00000400018.3_Missense_Mutation_p.H48Y	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	48					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ACTTCTGAATGAAGGTCATAT	0.284000													17	18					0	0	0.006122	0	0
TRPC4	7223	broad.mit.edu	37	13	38266349	38266349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:38266349G>A	ENST00000379705.3	-	4	1878	c.1021C>T	c.(1021-1023)Cct>Tct	p.P341S	TRPC4_ENST00000338947.5_Missense_Mutation_p.P168S|TRPC4_ENST00000355779.2_Missense_Mutation_p.P341S|TRPC4_ENST00000426868.2_Missense_Mutation_p.P341S|TRPC4_ENST00000447043.1_Missense_Mutation_p.P341S|TRPC4_ENST00000379681.3_Missense_Mutation_p.P341S|TRPC4_ENST00000379673.2_Missense_Mutation_p.P341S|TRPC4_ENST00000379679.1_Missense_Mutation_p.P168S|TRPC4_ENST00000358477.2_Missense_Mutation_p.P341S			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	341					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GAGAAGACAGGAAAAAGAAGT	0.473000													33	35					0	0	0.013726	0	0
PIGQ	9091	broad.mit.edu	37	16	628883	628883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:628883G>A	ENST00000321878.5	+	6	1327	c.1168G>A	c.(1168-1170)Gac>Aac	p.D390N	PIGQ_ENST00000409527.2_Missense_Mutation_p.D390N|PIGQ_ENST00000026218.5_Missense_Mutation_p.D390N	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	390	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CCTCCTCTCGGACATTATCGC	0.642000													32	36					0	0	0.013726	0	0
CCAR1	55749	broad.mit.edu	37	10	70547714	70547714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:70547714C>T	ENST00000265872.6	+	22	3030	c.2911C>T	c.(2911-2913)Cgt>Tgt	p.R971C	CCAR1_ENST00000535016.1_Missense_Mutation_p.R956C|CCAR1_ENST00000543719.1_Missense_Mutation_p.R956C	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	971					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGTAGTGCTCCGTGAATCTTG	0.353000													18	10					0	0	0.006122	0	0
CXorf23	256643	broad.mit.edu	37	X	19983446	19983446	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:19983446C>T	ENST00000379687.3	-	3	1023	c.990G>A	c.(988-990)ggG>ggA	p.G330G	CXorf23_ENST00000356980.3_Silent_p.G330G|CXorf23_ENST00000379682.4_Silent_p.G330G	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	330						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						GAGTCTCTCTCCCTCTTCCAG	0.348000													45	97					0	0	0.014410	0	0
DRD5	1816	broad.mit.edu	37	4	9784432	9784432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:9784432C>T	ENST00000304374.2	+	1	1175	c.779C>T	c.(778-780)tCc>tTc	p.S260F		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	260					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CGCAGGATTTCCTCCCTGGAG	0.627000													19	33					0	0	0.006122	0	0
XIRP2	129446	broad.mit.edu	37	2	168101889	168101889	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:168101889G>A	ENST00000409195.1	+	9	4076	c.3987G>A	c.(3985-3987)ggG>ggA	p.G1329G	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.G1107G|XIRP2_ENST00000295237.9_Silent_p.G1329G	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1154					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACCGAGAAGGGTCCTATCATG	0.393000													38	14					0	0	0.006230	0	0
CPXM2	119587	broad.mit.edu	37	10	125521430	125521430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:125521430C>T	ENST00000241305.3	-	11	1889	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	579					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ACAGTGCCCTCCTCCTTCTGG	0.662000													11	7					0	0	0.010729	0	0
DOCK6	57572	broad.mit.edu	37	19	11346378	11346378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:11346378C>T	ENST00000294618.7	-	21	2461	c.2450G>A	c.(2449-2451)cGg>cAg	p.R817Q	DOCK6_ENST00000319867.7_Missense_Mutation_p.R121Q	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	817					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CTCCAGGCTCCGGTGAACAAG	0.647000													3	13					0	0	0.004672	0	0
VPS13D	55187	broad.mit.edu	37	1	12339685	12339685	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:12339685G>T	ENST00000358136.3	+	20	4710	c.4580G>T	c.(4579-4581)gGa>gTa	p.G1527V	VPS13D_ENST00000356315.4_Missense_Mutation_p.G1527V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1527					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAGATTGAAGGAAAATTTGTC	0.328000													27	13					1.68575e-08	1.72364e-08	0.007291	1	0
SYNDIG1	79953	broad.mit.edu	37	20	24524084	24524084	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:24524084G>A	ENST00000376862.3	+	2	984	c.351G>A	c.(349-351)gaG>gaA	p.E117E		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	117					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTTCATCGAGGACCGGTCGC	0.597000													32	73					0	0	0.013726	0	0
MSL2	55167	broad.mit.edu	37	3	135870726	135870726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:135870726G>A	ENST00000309993.2	-	2	1729	c.997C>T	c.(997-999)Ccg>Tcg	p.P333S	MSL2_ENST00000434835.2_Missense_Mutation_p.P259S	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	333					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GCTATCTTCGGAGTTGCTGCT	0.433000													44	66					0	0	0.013114	0	0
PNPLA6	10908	broad.mit.edu	37	19	7600813	7600813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:7600813C>T	ENST00000414982.3	+	3	361	c.166C>T	c.(166-168)Cct>Tct	p.P56S	CTD-2207O23.10_ENST00000601870.1_Intron|PNPLA6_ENST00000600737.1_Missense_Mutation_p.P47S|PNPLA6_ENST00000221249.6_Intron|PNPLA6_ENST00000545201.2_Intron|PNPLA6_ENST00000450331.3_Intron	NM_001166111.1	NP_001159583.1	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	47					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCCGTTCGTCCCTCAGGTGCT	0.697000													3	5					0	0	0.004672	0	0
NTRK1	4914	broad.mit.edu	37	1	156849841	156849841	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:156849841C>T	ENST00000368196.3	+	15	2199	c.2079C>T	c.(2077-2079)atC>atT	p.I693I	NTRK1_ENST00000524377.1_Silent_p.I699I|NTRK1_ENST00000358660.3_Silent_p.I696I|NTRK1_ENST00000392302.2_Silent_p.I663I|NTRK1_ENST00000531606.1_3'UTR	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	699	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CCGAGAGCATCCTGTACCGTA	0.647000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			22	53					0	0	0.014323	0	0
WNK1	65125	broad.mit.edu	37	12	968516	968516	+	Silent	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:968516A>G	ENST00000537687.1	+	6	2149	c.1506A>G	c.(1504-1506)ttA>ttG	p.L502L	WNK1_ENST00000535572.1_Silent_p.L502L|WNK1_ENST00000340908.4_Silent_p.L95L|WNK1_ENST00000315939.6_Silent_p.L502L|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000530271.2_Silent_p.L502L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	502					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCATAAAATTATGGCTACGTA	0.348000													36	51					0	0	0.005524	0	0
NETO1	81832	broad.mit.edu	37	18	70451104	70451104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:70451104G>A	ENST00000327305.6	-	7	1334	c.677C>T	c.(676-678)tCa>tTa	p.S226L	NETO1_ENST00000583169.1_Missense_Mutation_p.S226L|NETO1_ENST00000299430.2_Missense_Mutation_p.S225L	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	226	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCACTCATTTGAATTCTGCAT	0.348000													54	98					0	0	0.014410	0	0
FANCM	57697	broad.mit.edu	37	14	45644608	45644608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:45644608C>T	ENST00000267430.5	+	14	2736	c.2651C>T	c.(2650-2652)tCc>tTc	p.S884F	FANCM_ENST00000542564.2_Missense_Mutation_p.S858F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	884					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GACAGAAATTCCACTGTTGAA	0.269000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				33	73					0	0	0.012213	0	0
PRRC2A	7916	broad.mit.edu	37	6	31599457	31599457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:31599457C>T	ENST00000376033.2	+	16	3241	c.3007C>T	c.(3007-3009)Ctt>Ttt	p.L1003F	PRRC2A_ENST00000376007.4_Missense_Mutation_p.L1003F	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1003	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.L1003I(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CAATGGAAATCTTTCCCCTGC	0.592000													12	20					0	0	0.010729	0	0
ACSM1	116285	broad.mit.edu	37	16	20696709	20696709	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:20696709G>A	ENST00000307493.4	-	2	276	c.209C>T	c.(208-210)cCa>cTa	p.P70L	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.P70L	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	70					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						AGCTGGATTTGGACCTCTCTT	0.463000													59	101					0	0	0.014410	0	0
USP15	9958	broad.mit.edu	37	12	62797974	62797974	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:62797974C>T	ENST00000280377.5	+	22	2823	c.2763_splice	c.e22-1	p.S922_splice	USP15_ENST00000353364.3_Splice_Site_p.S893_splice|USP15_ENST00000393654.3_Splice_Site_p.S897_splice	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	922					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TTTTGACAGTCCAAAGCAGCA	0.388000													65	136					0	0	0.014410	0	0
CGN	57530	broad.mit.edu	37	1	151491260	151491260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:151491260G>A	ENST00000271636.7	+	2	398	c.265G>A	c.(265-267)Ggg>Agg	p.G89R		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	83	Head.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAATGACCAAGGGGCCTCAGG	0.582000													12	28					0	0	0.010729	0	0
CARS	833	broad.mit.edu	37	11	3059395	3059395	+	Missense_Mutation	SNP	G	G	A	rs146537533		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:3059395G>A	ENST00000397114.3	-	7	783	c.407C>T	c.(406-408)cCc>cTc	p.P136L	CARS_ENST00000380525.4_Missense_Mutation_p.P229L|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000278224.9_Missense_Mutation_p.P146L|CARS_ENST00000397111.5_Missense_Mutation_p.P146L|CARS_ENST00000401769.3_Missense_Mutation_p.P159L			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	146					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTTTTTATCGGGATCCGTGGT	0.453000			T	ALK	ALCL						OREG0020690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	104					0	0	0.004656	0	0
FAM86HP	729375	broad.mit.edu	37	3	129821625	129821625	+	RNA	SNP	C	C	G	rs2976118	by1000genomes	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:129821625C>G	ENST00000500074.2	-	0	520																											GTGGTGAACACCTGGCACGTC	0.667000													5	97					0	0	0.008291	0	0
PLCE1	51196	broad.mit.edu	37	10	95791355	95791355	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:95791355G>A	ENST00000260766.3	+	2	1186	c.552G>A	c.(550-552)agG>agA	p.R184R	PLCE1_ENST00000371380.2_Silent_p.R184R	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	184					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACAGCAGAAGGGCAGTATTTC	0.403000													29	30					0	0	0.009535	0	0
KLHDC4	54758	broad.mit.edu	37	16	87790057	87790057	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:87790057G>A	ENST00000270583.5	-	3	276	c.218C>T	c.(217-219)cCt>cTt	p.P73L	KLHDC4_ENST00000353170.5_Intron|KLHDC4_ENST00000347925.5_Missense_Mutation_p.P73L	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	73										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		ATCTTTCTCAGGATGAACCGA	0.448000													15	13					0	0	0.004007	0	0
CD4	920	broad.mit.edu	37	12	6909311	6909311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:6909311C>T	ENST00000011653.4	+	2	265	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	CD4_ENST00000538827.1_Intron|CD4_ENST00000541982.1_Missense_Mutation_p.R3W	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	3					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CACAATGAACCGGGGAGTCCC	0.572000													17	44					0	0	0.006122	0	0
MGAM	8972	broad.mit.edu	37	7	141731489	141731489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:141731489G>A	ENST00000475668.2	+	13	1534	c.1480G>A	c.(1480-1482)Gga>Aga	p.G494R	MGAM_ENST00000549489.2_Missense_Mutation_p.G494R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	494	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGTCTGGCCTGGACAAACTGT	0.358000													43	115					0	0	0.010771	0	0
KIF21B	23046	broad.mit.edu	37	1	200974769	200974769	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:200974769G>A	ENST00000332129.2	-	4	817	c.501C>T	c.(499-501)acC>acT	p.T167T	KIF21B_ENST00000461742.2_Silent_p.T167T|KIF21B_ENST00000360529.5_Silent_p.T167T|KIF21B_ENST00000422435.2_Silent_p.T167T	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	167	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGCGGTGGCGGGTGTCAGGGT	0.572000													40	73					0	0	0.008740	0	0
SQRDL	58472	broad.mit.edu	37	15	45965900	45965900	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:45965900C>T	ENST00000260324.7	+	5	941	c.555C>T	c.(553-555)ttC>ttT	p.F185F	SQRDL_ENST00000568606.1_Silent_p.F185F|RP11-96O20.4_ENST00000564080.1_Silent_p.F185F	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	185							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TGCAGGACTTCAAAGAGGGCA	0.458000													42	58					0	0	0.007835	0	0
TIAM2	26230	broad.mit.edu	37	6	155451257	155451257	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:155451257G>A	ENST00000461783.3	+	6	2173	c.900G>A	c.(898-900)cgG>cgA	p.R300R	TIAM2_ENST00000318981.5_Silent_p.R300R|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Silent_p.R300R|TIAM2_ENST00000456144.1_Silent_p.R300R|TIAM2_ENST00000529824.2_Silent_p.R300R			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	300					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCTCCCTCCGGGAACTGTACA	0.592000													28	12					0	0	0.009535	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906736	164906736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:164906736C>T	ENST00000475390.1	-	2	2326	c.1883G>A	c.(1882-1884)gGa>gAa	p.G628E	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G628E			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	628						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GTGAGAATCTCCAGGCTGGGC	0.547000										HNSCC(40;0.11)			11	21					0	0	0.008291	0	0
DUSP3	1845	broad.mit.edu	37	17	41852141	41852141	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:41852141G>A	ENST00000226004.3	-	2	354	c.291C>T	c.(289-291)aaC>aaT	p.N97N	DUSP3_ENST00000397937.2_Silent_p.N56N	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	97					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		AAGCGCTGAGGTTGAACTCCT	0.532000													42	58					0	0	0.007835	0	0
PPP6R2	9701	broad.mit.edu	37	22	50877130	50877130	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:50877130G>A	ENST00000359139.3	+	18	2380	c.1986G>A	c.(1984-1986)ggG>ggA	p.G662G	PPP6R2_ENST00000216061.5_Silent_p.G689G|PPP6R2_ENST00000395744.3_Silent_p.G662G|PPP6R2_ENST00000395741.3_Silent_p.G663G	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	689						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						ATGCACCTGGGGCAGGTGCCC	0.652000													18	28					0	0	0.004990	0	0
ACACA	31	broad.mit.edu	37	17	35506859	35506859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:35506859G>A	ENST00000353139.5	-	45	6089	c.5608C>T	c.(5608-5610)Cgg>Tgg	p.R1870W	ACACA_ENST00000394406.2_Missense_Mutation_p.R1833W|ACACA_ENST00000360679.3_Missense_Mutation_p.R1775W|ACACA_ENST00000335166.5_Missense_Mutation_p.R1755W|ACACA_ENST00000361253.5_5'UTR	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1833	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGTCCCAGCCGGACAAGGTAA	0.433000													33	44					0	0	0.003755	0	0
PELI2	57161	broad.mit.edu	37	14	56757086	56757086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:56757086C>T	ENST00000267460.4	+	5	894	c.608C>T	c.(607-609)tCc>tTc	p.S203F		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	203					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						ACCGAGGAGTCCCAGCCCGGG	0.587000													27	75					0	0	0.004656	0	0
USHBP1	83878	broad.mit.edu	37	19	17361198	17361198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:17361198C>T	ENST00000252597.3	-	13	2121	c.1948G>A	c.(1948-1950)Gcc>Acc	p.A650T	AC010646.3_ENST00000594059.1_Intron|USHBP1_ENST00000431146.2_Missense_Mutation_p.A586T	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	650							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TTCCGGTGGGCTCCTCGGAAG	0.667000													26	44					0	0	0.010818	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540580	133540580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:133540580C>T	ENST00000409261.1	-	14	4177	c.3804G>A	c.(3802-3804)atG>atA	p.M1268I	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.M1268I|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1268							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGCGCCATTCATACCCAGAG	0.537000													48	40					0	0	0.014410	0	0
NAALAD2	10003	broad.mit.edu	37	11	89880513	89880513	+	Silent	SNP	T	T	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:89880513T>C	ENST00000534061.1	+	3	440	c.210T>C	c.(208-210)ctT>ctC	p.L70L	NAALAD2_ENST00000525171.1_Silent_p.L70L|NAALAD2_ENST00000321955.4_Silent_p.L70L|NAALAD2_ENST00000375944.3_Silent_p.L70L	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	70					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTACAAAGCTTCCTCATCTGG	0.363000													26	33					0	0	0.003954	0	0
CYP11B1	1584	broad.mit.edu	37	8	143961147	143961147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:143961147G>A	ENST00000292427.4	-	1	115	c.83C>T	c.(82-84)gCc>gTc	p.A28V	CYP11B1_ENST00000377675.3_Missense_Mutation_p.A28V|CYP11B1_ENST00000517471.1_Missense_Mutation_p.A28V	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	28					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GACCCGGGCGGCTCTCGTGCC	0.647000									Familial Hyperaldosteronism type I				47	60					0	0	0.013114	0	0
EPN2	22905	broad.mit.edu	37	17	19216560	19216560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:19216560C>T	ENST00000314728.5	+	7	1599	c.1115C>T	c.(1114-1116)cCt>cTt	p.P372L	EPN2_ENST00000395626.1_Missense_Mutation_p.P372L|EPN2_ENST00000571254.1_Missense_Mutation_p.P308L|EPN2_ENST00000395620.2_Missense_Mutation_p.P315L|EPN2_ENST00000395618.3_Missense_Mutation_p.P87L|EPN2_ENST00000347697.2_Missense_Mutation_p.P315L|EPN2_ENST00000575595.1_Missense_Mutation_p.P80L	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	372	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding	p.P372H(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CCAGCGGCTCCTGCGAGTACT	0.657000													18	54					0	0	0.012319	0	0
LILRB1	10859	broad.mit.edu	37	19	55143446	55143446	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:55143446A>T	ENST00000396331.1	+	6	776	c.419A>T	c.(418-420)aAt>aTt	p.N140I	LILRB1_ENST00000396321.2_Missense_Mutation_p.N140I|LILRB1_ENST00000418536.2_Missense_Mutation_p.N140I|LILRB1_ENST00000396317.1_Missense_Mutation_p.N140I|LILRB1_ENST00000448689.1_Missense_Mutation_p.N140I|LILRB1_ENST00000396327.3_Missense_Mutation_p.N140I|LILRB1_ENST00000396332.4_Missense_Mutation_p.N140I|LILRB1_ENST00000324602.7_Missense_Mutation_p.N140I|LILRB1_ENST00000434867.2_Missense_Mutation_p.N140I|LILRB1_ENST00000396315.1_Missense_Mutation_p.N140I|LILRB1_ENST00000427581.2_Missense_Mutation_p.N176I	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	140	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCAGGAGGGAATGTAATCCTC	0.542000										HNSCC(37;0.09)			43	66					0	0	0.009718	0	0
ATP8B1	5205	broad.mit.edu	37	18	55334335	55334335	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:55334335C>T	ENST00000536015.1	-	20	2393	c.2274G>A	c.(2272-2274)ggG>ggA	p.G758G	ATP8B1_ENST00000283684.4_Silent_p.G758G|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	758					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TAATATCCTCCCCATAGCAGA	0.353000													18	32					0	0	0.012319	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879381	3879381	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:3879381G>A	ENST00000315677.3	-	4	1283	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R230C|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R230C|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R230C	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	230					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GAGGCCGAGCGGTCGGGGCAC	0.652000													45	82					0	0	0.013114	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027473	9027473	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:9027473G>A	ENST00000383836.3	-	22	3457	c.3030C>T	c.(3028-3030)gcC>gcT	p.A1010A	SRGAP3_ENST00000360413.3_Silent_p.A986A	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	1010					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GAAGGGGACTGGCGGGCTCCG	0.657000			T	RAF1	pilocytic astrocytoma								25	38					0	0	0.004656	0	0
NBEA	26960	broad.mit.edu	37	13	35733844	35733844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:35733844G>A	ENST00000540320.1	+	22	4070	c.3536G>A	c.(3535-3537)gGt>gAt	p.G1179D	NBEA_ENST00000310336.4_Missense_Mutation_p.G1179D|NBEA_ENST00000379939.2_Missense_Mutation_p.G1179D|NBEA_ENST00000400445.3_Missense_Mutation_p.G1179D			Q8NFP9	NBEA_HUMAN	neurobeachin	1179						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTACATCTTGGTGTTAGTGAT	0.353000													23	15					0	0	0.003954	0	0
OR4M1	441670	broad.mit.edu	37	14	20249060	20249060	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:20249060C>T	ENST00000315957.4	+	1	660	c.579C>T	c.(577-579)ttC>ttT	p.F193F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAACACCTTCCCAGAGGAGT	0.478000													74	446					0	0	0.014410	0	0
EBLN2	55096	broad.mit.edu	37	3	73111720	73111720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:73111720C>T	ENST00000533473.1	+	1	911	c.488C>T	c.(487-489)cCt>cTt	p.P163L	PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000356692.5_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	163							protein binding			endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						AGGGGTACTCCTTATGCTAGC	0.453000													21	38					0	0	0.014323	0	0
DSPP	1834	broad.mit.edu	37	4	88533474	88533474	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:88533474G>A	ENST00000399271.1	+	4	256	c.135_splice	c.e4-1	p.D46_splice	DSPP_ENST00000282478.7_Splice_Site_p.D46_splice|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	46					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TCTTTTTCAGGATGAGTTAAA	0.383000													12	20					0	0	0.001855	0	0
HRC	3270	broad.mit.edu	37	19	49658453	49658453	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:49658453C>T	ENST00000252825.4	-	1	228	c.42G>A	c.(40-42)tgG>tgA	p.W14*	HRC_ENST00000595625.1_Nonsense_Mutation_p.W14*	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	14					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CCACCCCAGCCCAGAGGACAG	0.652000													23	30					0	0	0.004656	0	0
SCN7A	6332	broad.mit.edu	37	2	167327137	167327137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:167327137G>A	ENST00000409855.1	-	6	778	c.652C>T	c.(652-654)Cct>Tct	p.P218S		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	218					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGATTTAAAGGAATAATTTTT	0.323000													6	4					0	0	0.001168	0	0
FAM27L	284123	broad.mit.edu	37	17	21825499	21825499	+	RNA	SNP	G	G	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:21825499G>T	ENST00000426869.3	+	0	203					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		gggccgactaggatgacgaaa	0.647000													18	50					0.00741294	0.00753192	0.007413	1	0
C20orf26	26074	broad.mit.edu	37	20	20209001	20209001	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:20209001C>T	ENST00000245957.5	+	18	2117	c.2041C>T	c.(2041-2043)Cta>Tta	p.L681L	C20orf26_ENST00000497372.1_3'UTR|C20orf26_ENST00000377309.2_Silent_p.L37L|C20orf26_ENST00000389656.3_Silent_p.L37L|C20orf26_ENST00000377293.1_Silent_p.L37L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	681										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AATTTCCTTCCTAGAGACATT	0.338000													69	115					0	0	0.014410	0	0
ARSF	416	broad.mit.edu	37	X	3028281	3028281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:3028281C>T	ENST00000381127.1	+	10	1599	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S	ARSF_ENST00000359361.2_Missense_Mutation_p.P460S|ARSF_ENST00000537104.1_Missense_Mutation_p.P460S	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	460						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				GCGGTGGATCCCCAAGGACGA	0.572000													41	80					0	0	0.014410	0	0
DSP	1832	broad.mit.edu	37	6	7584254	7584254	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:7584254C>T	ENST00000379802.3	+	24	7100	c.6759C>T	c.(6757-6759)ttC>ttT	p.F2253F	DSP_ENST00000418664.2_Silent_p.F1654F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2253	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTAAGGACTTCCTCCAGGGTT	0.443000													49	36					0	0	0.013114	0	0
OR6C3	254786	broad.mit.edu	37	12	55726022	55726022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:55726022C>T	ENST00000379667.1	+	1	538	c.538C>T	c.(538-540)Ccc>Tcc	p.P180S		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGACTATTTTCCCCTCTTACA	0.408000													84	163					0	0	0.014410	0	0
GOLGA3	2802	broad.mit.edu	37	12	133381570	133381570	+	Silent	SNP	G	G	A	rs149503883	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:133381570G>A	ENST00000204726.3	-	7	1887	c.1329C>T	c.(1327-1329)gcC>gcT	p.A443A	GOLGA3_ENST00000450791.2_Silent_p.A443A|GOLGA3_ENST00000456883.2_Silent_p.A443A|GOLGA3_ENST00000537452.1_Silent_p.A443A|GOLGA3_ENST00000545875.1_Silent_p.A443A	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	443					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGCTGAGGGCGGCCAGCTGGG	0.562000													18	34					0	0	0.006122	0	0
PRX	57716	broad.mit.edu	37	19	40900066	40900066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:40900066G>A	ENST00000324001.7	-	7	4463	c.4193C>T	c.(4192-4194)gCc>gTc	p.A1398V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1398					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGACTTGGGGGCTGCATCGCC	0.697000													37	60					0	0	0.008740	0	0
TRAV2	28691	broad.mit.edu	37	14	22180841	22180841	+	RNA	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:22180841C>T	ENST00000390424.2	+	0	123																											GTGGCATCTTCAGAGGGAGCT	0.448000													55	100					0	0	0.014410	0	0
C2CD2	25966	broad.mit.edu	37	21	43327228	43327228	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:43327228G>A	ENST00000380486.3	-	10	1432	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	C2CD2_ENST00000329623.7_Silent_p.P242P	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	397						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CAGGAACAGGGGGAGGGATGG	0.532000													14	34					0	0	0.001855	0	0
WEE2	494551	broad.mit.edu	37	7	141414204	141414204	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:141414204C>T	ENST00000397541.2	+	2	944	c.539_splice	c.e2+1	p.L180_splice	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	180					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AAGAGGAGATCTGTAAGTGCT	0.368000													29	49					0	0	0.006320	0	0
EFCAB12	90288	broad.mit.edu	37	3	129134234	129134234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:129134234G>A	ENST00000505956.1	-	4	854	c.692C>T	c.(691-693)cCt>cTt	p.P231L	EFCAB12_ENST00000326085.3_Missense_Mutation_p.P231L	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		GTTCTTCAGAGGGACTCCGAC	0.537000													11	19					0	0	0.008291	0	0
STK40	83931	broad.mit.edu	37	1	36820960	36820960	+	Silent	SNP	G	G	A	rs145709842	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:36820960G>A	ENST00000359297.2	-	4	424	c.417C>T	c.(415-417)ctC>ctT	p.L139L	STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373129.3_Silent_p.L139L|STK40_ENST00000373130.3_Silent_p.L144L|STK40_ENST00000373132.3_Silent_p.L139L			Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	139	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				AGTCCAGGACGAGGCAGATGC	0.567000													82	180					0	0	0.014410	0	0
LCNL1	401562	broad.mit.edu	37	9	139878151	139878151	+	Missense_Mutation	SNP	G	G	A	rs142707510	by1000genomes	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:139878151G>A	ENST00000408973.2	+	1	707	c.113G>A	c.(112-114)gGa>gAa	p.G38E		NM_207510.3	NP_997393.3	Q6ZST4	LCNL1_HUMAN	lipocalin-like 1	38							binding										CTCAAGTTTGGATACCCCACG	0.572000													43	26					0	0	0.014410	0	0
FHDC1	85462	broad.mit.edu	37	4	153864378	153864378	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:153864378T>G	ENST00000511601.1	+	2	357	c.169T>G	c.(169-171)Tcc>Gcc	p.S57A	FHDC1_ENST00000260008.3_Missense_Mutation_p.S57A			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	57					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GTGTCCTTCCTCCCCTCCTCC	0.607000													6	14					0	0	0.003080	0	0
PRKAG3	53632	broad.mit.edu	37	2	219693283	219693283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:219693283C>T	ENST00000439262.2	-	5	694	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	PRKAG3_ENST00000545803.1_Missense_Mutation_p.R41Q|PRKAG3_ENST00000529249.1_Missense_Mutation_p.R225Q|PRKAG3_ENST00000392098.3_Missense_Mutation_p.R225Q	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	225	CBS 1.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGGCTGCCCGCACACCGTT	0.612000													5	6					0	0	0.001984	0	0
SATB1	6304	broad.mit.edu	37	3	18419810	18419810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:18419810G>A	ENST00000338745.6	-	9	3161	c.1427C>T	c.(1426-1428)aCa>aTa	p.T476I	SATB1_ENST00000454909.2_Missense_Mutation_p.T476I|SATB1_ENST00000417717.2_Missense_Mutation_p.T476I|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	476					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						AATAGTAGCTGTTTTCACCTA	0.398000													77	113					0	0	0.014410	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153958278	153958278	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:153958278G>T	ENST00000356448.4	+	12	2494	c.2210G>T	c.(2209-2211)aGa>aTa	p.R737I	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.R737I|ARHGEF26_ENST00000483068.1_3'UTR	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	737	PH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CTCTATTCAAGACAGAGCTCT	0.428000													4	17					0.00909568	0.00922879	0.009096	1	0
TNXB	7148	broad.mit.edu	37	6	32062967	32062967	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:32062967C>T	ENST00000375244.3	-	4	2445	c.2242_splice	c.e4-1	p.E748_splice	TNXB_ENST00000375247.2_Splice_Site_p.E748_splice|TNXB_ENST00000479795.1_Splice_Site_p.E748_splice			P22105	TENX_HUMAN	tenascin XB	747					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGTTGGCACCTCTGCCCAAG	0.562000													13	35					0	0	0.002450	0	0
NPR2	4882	broad.mit.edu	37	9	35801659	35801659	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:35801659G>A	ENST00000342694.2	+	8	1711	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	486					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GCTGGAGAAGGAGCTGGCTAG	0.562000													30	26					0	0	0.009535	0	0
TIPIN	54962	broad.mit.edu	37	15	66644506	66644506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:66644506C>T	ENST00000261881.4	-	3	258	c.173G>A	c.(172-174)aGa>aAa	p.R58K	TIPIN_ENST00000367709.4_5'UTR	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	58					cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						TTTAACTGTTCTCTTTGGAGG	0.308000													12	33					0	0	0.004656	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110520387	110520387	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:110520387G>A	ENST00000378402.5	+	70	11393	c.11289G>A	c.(11287-11289)ggG>ggA	p.G3763G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3763					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTGCTTTGGGATGGAATATG	0.378000										HNSCC(38;0.096)			43	85					0	0	0.014410	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451522	38451522	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:38451522C>T	ENST00000322350.5	+	19	2995	c.2649C>T	c.(2647-2649)ttC>ttT	p.F883F	EGFLAM_ENST00000397210.3_Silent_p.F26F|EGFLAM_ENST00000514476.1_Silent_p.F26F|EGFLAM_ENST00000354891.3_Silent_p.F891F|EGFLAM_ENST00000506135.1_Silent_p.F26F|EGFLAM_ENST00000336740.6_Silent_p.F649F|EGFLAM_ENST00000397202.2_Silent_p.F249F	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	891	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACAGCGACTTCATTTCCTTGG	0.512000													64	86					0	0	0.014410	0	0
BPIFB1	92747	broad.mit.edu	37	20	31889060	31889060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:31889060G>A	ENST00000253354.1	+	9	930	c.769G>A	c.(769-771)Gga>Aga	p.G257R	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	257						extracellular space	lipid binding										GGACTCACAGGGAAAGGTGAC	0.502000													39	73					0	0	0.006999	0	0
AP4B1	10717	broad.mit.edu	37	1	114437756	114437756	+	Silent	SNP	C	C	T	rs145170032	by1000genomes	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:114437756C>T	ENST00000369569.1	-	10	2431	c.2151G>A	c.(2149-2151)acG>acA	p.T717T	AP4B1_ENST00000256658.4_Silent_p.T717T|AP4B1_ENST00000369567.1_Silent_p.T549T|AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	717					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGCGTCTCCGTTCTTGCTT	0.378000													16	42					0	0	0.004990	0	0
MCM3AP	8888	broad.mit.edu	37	21	47699945	47699945	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:47699945G>A	ENST00000397708.1	-	5	1883	c.1629C>T	c.(1627-1629)gcC>gcT	p.A543A	MCM3AP_ENST00000291688.1_Silent_p.A543A			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	543					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCCTCCCTGCGGCCTTGCCAA	0.542000													38	79					0	0	0.006230	0	0
ORMDL3	94103	broad.mit.edu	37	17	38079468	38079468	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:38079468G>A	ENST00000394169.1	-	5	1717	c.223C>T	c.(223-225)Ccg>Tcg	p.P75S	ORMDL3_ENST00000304046.2_Missense_Mutation_p.P75S|ORMDL3_ENST00000584220.1_Missense_Mutation_p.P59S|ORMDL3_ENST00000579695.1_Missense_Mutation_p.P75S			Q8N138	ORML3_HUMAN	ORM1-like 3 (S. cerevisiae)	75					ceramide metabolic process	integral to membrane|SPOTS complex	protein binding	p.P75T(1)		endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			CCCTGGTCCGGGGTCTCAAAG	0.562000													39	94					0	0	0.009718	0	0
TGFBR2	7048	broad.mit.edu	37	3	30733068	30733068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:30733068G>A	ENST00000295754.5	+	7	2063	c.1681G>A	c.(1681-1683)Ggc>Agc	p.G561S	TGFBR2_ENST00000359013.4_Missense_Mutation_p.G586S	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	561					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TCCTGAAGACGGCTCCCTAAA	0.592000													26	52					0	0	0.003954	0	0
DYRK3	8444	broad.mit.edu	37	1	206811089	206811089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:206811089C>T	ENST00000367106.1	+	3	585	c.112C>T	c.(112-114)Cca>Tca	p.P38S	DYRK3_ENST00000367108.3_Missense_Mutation_p.P38S|DYRK3_ENST00000489878.1_3'UTR|DYRK3_ENST00000367109.2_Missense_Mutation_p.P58S			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	58					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TGAACCACCTCCACCCAGAAG	0.403000													41	64					0	0	0.010771	0	0
INF2	64423	broad.mit.edu	37	14	105173364	105173364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:105173364C>T	ENST00000392634.4	+	7	1073	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	INF2_ENST00000330634.7_Missense_Mutation_p.R321W	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	321	GBD/FH3.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCTCGTGAACCGGGCCGTGCT	0.711000													7	11					0	0	0.001984	0	0
HOOK2	29911	broad.mit.edu	37	19	12874530	12874530	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:12874530G>A	ENST00000264827.5	-	20	2054	c.1884C>T	c.(1882-1884)tcC>tcT	p.S628S	HOOK2_ENST00000397668.3_Silent_p.S630S	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	630	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GTGTCCTCAGGGAATGGAGTT	0.602000													28	49					0	0	0.007291	0	0
BCAS1	8537	broad.mit.edu	37	20	52645135	52645135	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:52645135G>A	ENST00000395961.3	-	4	685	c.519C>T	c.(517-519)ctC>ctT	p.L173L	BCAS1_ENST00000411563.1_Silent_p.L76L|BCAS1_ENST00000371440.3_Silent_p.L173L|BCAS1_ENST00000371435.2_Silent_p.L173L	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	173						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCTCAGGTGGGAGAAGCGTGG	0.602000													54	75					0	0	0.014410	0	0
ZFP14	57677	broad.mit.edu	37	19	36831391	36831391	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:36831391T>C	ENST00000270001.7	-	5	1452	c.1337A>G	c.(1336-1338)cAc>cGc	p.H446R		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CTCACCAGTGTGAATACTTTG	0.413000													41	73					0	0	0.007835	0	0
BRD8	10902	broad.mit.edu	37	5	137475806	137475806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:137475806C>T	ENST00000254900.5	-	27	4036	c.3665G>A	c.(3664-3666)gGa>gAa	p.G1222E		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1222					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGCTGGTTCTCCTTCCAGACT	0.413000													23	69					0	0	0.003271	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774692	140774692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140774692C>T	ENST00000398604.2	+	1	2312	c.2312C>T	c.(2311-2313)cCc>cTc	p.P771L	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATCTTTCCCCAGCCCAAC	0.478000													39	81					0	0	0.013114	0	0
NMNAT2	23057	broad.mit.edu	37	1	183253165	183253165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:183253165G>A	ENST00000287713.6	-	7	873	c.539C>T	c.(538-540)gCc>gTc	p.A180V	NMNAT2_ENST00000294868.4_Missense_Mutation_p.A175V|NMNAT2_ENST00000473046.1_5'UTR	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	180					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	p.A180V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						GCCCAGATTGGCATTCTCATC	0.527000													28	40					0	0	0.012213	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760987	186760987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:186760987G>A	ENST00000169298.3	+	4	1170	c.496G>A	c.(496-498)Gag>Aag	p.E166K	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.E166K|ST6GAL1_ENST00000457772.2_Intron	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	166					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CTCTGAATGGGAGGGTTATCT	0.552000													32	75					0	0	0.010818	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103436544	103436544	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:103436544G>A	ENST00000361246.2	-	14	2227	c.1939C>T	c.(1939-1941)Cgt>Tgt	p.R647C		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	647					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTGTGCTCACGAAGCTTGCGC	0.537000													9	13					0	0	0.008291	0	0
OR6C1	390321	broad.mit.edu	37	12	55714592	55714592	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:55714592C>T	ENST00000379668.2	+	1	247	c.209C>T	c.(208-210)tCg>tTg	p.S70L		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTAGAAATTTCGTTCACAACC	0.378000													24	41					0	0	0.014323	0	0
CACNA1S	779	broad.mit.edu	37	1	201035038	201035038	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:201035038G>A	ENST00000362061.3	-	22	3007	c.2781C>T	c.(2779-2781)acC>acT	p.T927T	CACNA1S_ENST00000367338.3_Silent_p.T927T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	927					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGTTCCCGATGGTGCTGATGG	0.617000													6	19					0	0	0.001168	0	0
MYH13	8735	broad.mit.edu	37	17	10243706	10243706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:10243706C>T	ENST00000418404.3	-	16	2070	c.1907G>A	c.(1906-1908)gGa>gAa	p.G636E	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000570743.1_Missense_Mutation_p.G636E|MYH13_ENST00000252172.4_Missense_Mutation_p.G636E			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	636	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTTCTTGCTTCCTCCGGAGTC	0.557000													20	29					0	0	0.007413	0	0
FGG	2266	broad.mit.edu	37	4	155533572	155533572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:155533572C>T	ENST00000404648.3	-	2	333	c.94G>A	c.(94-96)Gac>Aac	p.D32N	FGG_ENST00000407946.1_Missense_Mutation_p.D32N|FGG_ENST00000405164.1_Missense_Mutation_p.D32N|FGG_ENST00000336098.3_Missense_Mutation_p.D32N	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	32					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAGCAGTTGTCTCTGGTAGCA	0.343000													62	124					0	0	0.014410	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495192	6495192	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:6495192C>T	ENST00000264071.2	-	4	1689	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	TUBB4A_ENST00000540257.1_Missense_Mutation_p.E440K			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	440					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										ACCTCCTCCTCCGCCTCCTCC	0.627000													26	59					0	0	0.003954	0	0
OR4D10	390197	broad.mit.edu	37	11	59245615	59245615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:59245615C>T	ENST00000530162.1	+	1	770	c.713C>T	c.(712-714)tCc>tTc	p.S238F		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAAGCCATCTCCACCTGCACC	0.547000													65	93					0	0	0.014410	0	0
ARMC4	55130	broad.mit.edu	37	10	28225752	28225752	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:28225752A>C	ENST00000305242.5	-	15	2247	c.2155T>G	c.(2155-2157)Ttg>Gtg	p.L719V	ARMC4_ENST00000545014.1_Missense_Mutation_p.L244V|ARMC4_ENST00000537576.1_Missense_Mutation_p.L411V	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	719							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AGACTGGCCAAGGGCTTAAGT	0.473000													43	81					0	0	0.013114	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33588887	33588887	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:33588887G>A	ENST00000504830.1	-	18	3017	c.2682C>T	c.(2680-2682)tgC>tgT	p.C894C	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.C809C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	894	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATGTCGCCGAGCATGCTTCCC	0.587000										HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	30					0	0	0.012319	0	0
MYH4	4622	broad.mit.edu	37	17	10356486	10356486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:10356486C>T	ENST00000255381.2	-	24	3204	c.3094G>A	c.(3094-3096)Gaa>Aaa	p.E1032K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1032					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACTTGCTGTTCTAGCTTGGTT	0.463000													143	196					0	0	0.014410	0	0
HK2	3099	broad.mit.edu	37	2	75116533	75116533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:75116533G>A	ENST00000290573.2	+	17	3137	c.2537G>A	c.(2536-2538)cGa>cAa	p.R846Q	HK2_ENST00000409174.1_Missense_Mutation_p.R818Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	846	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GACAGGATACGAGAAAACCGT	0.612000													18	17					0	0	0.004990	0	0
MPDZ	8777	broad.mit.edu	37	9	13176228	13176228	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:13176228A>C	ENST00000319217.7	-	20	3085	c.2838T>G	c.(2836-2838)tgT>tgG	p.C946W	MPDZ_ENST00000447879.1_Missense_Mutation_p.C946W|MPDZ_ENST00000381022.2_Missense_Mutation_p.C946W|MPDZ_ENST00000546205.1_Missense_Mutation_p.C946W|MPDZ_ENST00000536827.1_Missense_Mutation_p.C946W|MPDZ_ENST00000541718.1_Missense_Mutation_p.C946W|MPDZ_ENST00000381015.4_Missense_Mutation_p.C946W	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	946					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTGTGTTTTCACATTCATATT	0.393000													3	5					0	0	0.004672	0	0
SIDT2	51092	broad.mit.edu	37	11	117066765	117066765	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:117066765A>T	ENST00000324225.4	+	26	3013	c.2482A>T	c.(2482-2484)Aag>Tag	p.K828*	SIDT2_ENST00000532062.1_Nonsense_Mutation_p.K120*|SIDT2_ENST00000431081.2_Nonsense_Mutation_p.K825*	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	828						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GCAGCGGGACAAGATCTATGT	0.582000													54	70					0	0	0.014410	0	0
SCN5A	6331	broad.mit.edu	37	3	38620983	38620983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:38620983C>T	ENST00000413689.1	-	18	3425	c.3232G>A	c.(3232-3234)Gaa>Aaa	p.E1078K	SCN5A_ENST00000425664.1_Missense_Mutation_p.E1078K|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000443581.1_Splice_Site_p.E1077_splice|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1078K|SCN5A_ENST00000423572.2_Splice_Site_p.E1077_splice|SCN5A_ENST00000455624.2_Splice_Site_p.E1077_splice|SCN5A_ENST00000333535.4_Missense_Mutation_p.E1078K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1078					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGCTGGGATTCCTGCTGAAAA	0.647000													16	24					0	0	0.004007	0	0
CADPS	8618	broad.mit.edu	37	3	62452067	62452067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:62452067C>T	ENST00000383710.4	-	25	3848	c.3499G>A	c.(3499-3501)Gac>Aac	p.D1167N	CADPS_ENST00000462768.1_5'UTR|CADPS_ENST00000283269.9_Missense_Mutation_p.D1128N|CADPS_ENST00000357948.3_Missense_Mutation_p.D1088N	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1167					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATTAGTTCGTCTATTTTTGAA	0.363000													8	21					0	0	0.006214	0	0
TRIM32	22954	broad.mit.edu	37	9	119460989	119460989	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:119460989G>C	ENST00000450136.1	+	2	1129	c.968G>C	c.(967-969)aGa>aCa	p.R323T	ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R323T|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	323					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GTTACTTTTAGAGAGATGGAC	0.562000													39	19					0	0	0.006999	0	0
LMBR1	64327	broad.mit.edu	37	7	156480835	156480835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:156480835C>T	ENST00000353442.4	-	16	1512	c.1276G>A	c.(1276-1278)Gga>Aga	p.G426R	LMBR1_ENST00000359422.4_Intron|LMBR1_ENST00000354505.4_Missense_Mutation_p.G467R|LMBR1_ENST00000461603.1_5'UTR|LMBR1_ENST00000540390.1_Intron	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	426						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TAGAAATTTCCCAGCCAATTA	0.333000													55	55					0	0	0.014410	0	0
ERCC5	2073	broad.mit.edu	37	13	103527856	103527856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:103527856C>T	ENST00000355739.4	+	15	4587	c.3164C>T	c.(3163-3165)aCc>aTc	p.T1055I	ERCC5_ENST00000472247.1_3'UTR|ERCC5_ENST00000375954.1_Missense_Mutation_p.T288I	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAAGGAAAAACCCAGAAGAGA	0.398000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				80	108					0	0	0.014410	0	0
MYLK	4638	broad.mit.edu	37	3	123512533	123512533	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:123512533G>A	ENST00000360772.3	-	5	534	c.156C>T	c.(154-156)ttC>ttT	p.F52F	MYLK_ENST00000346322.5_Silent_p.F52F|MYLK_ENST00000360304.3_Silent_p.F52F|MYLK_ENST00000359169.1_Silent_p.F52F|MYLK_ENST00000475616.1_Silent_p.F52F			Q15746	MYLK_HUMAN	myosin light chain kinase	52	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.F52F(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCCGCCCTTCGAACTTGGCGG	0.602000													14	28					0	0	0.004990	0	0
RADIL	55698	broad.mit.edu	37	7	4855859	4855859	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:4855859C>T	ENST00000399583.3	-	8	2153	c.1966_splice	c.e8+1	p.G656_splice	RADIL_ENST00000538469.1_Splice_Site_p.G416_splice|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	656	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGGCCCTCACCCCTGTCGAGG	0.672000													19	47					0	0	0.007413	0	0
VWA1	64856	broad.mit.edu	37	1	1372758	1372758	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:1372758C>T	ENST00000338660.5	+	2	356	c.130C>T	c.(130-132)Cct>Tct	p.P44S	VWA1_ENST00000476993.1_Silent_p.F175F|VWA1_ENST00000404702.3_5'UTR			Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	433	VWFA.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAGGCAACTTCCTGGAGCTGT	0.632000													22	14					0	0	0.010504	0	0
ITIH6	347365	broad.mit.edu	37	X	54784030	54784030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:54784030G>A	ENST00000218436.6	-	8	2506	c.2477C>T	c.(2476-2478)cCt>cTt	p.P826L		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	826	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AGGAACCCTAGGTCTGGTGTG	0.517000													51	94					0	0	0.014410	0	0
BNC2	54796	broad.mit.edu	37	9	16436277	16436277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:16436277G>A	ENST00000380672.4	-	6	1972	c.1915C>T	c.(1915-1917)Cct>Tct	p.P639S	BNC2_ENST00000545497.1_Missense_Mutation_p.P544S|BNC2_ENST00000380667.2_Missense_Mutation_p.P572S|BNC2_ENST00000380666.2_Missense_Mutation_p.P639S	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ATCTTCACAGGCATGCTTGAC	0.522000													36	28					0	0	0.004878	0	0
NBAS	51594	broad.mit.edu	37	2	15470890	15470890	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:15470890C>T	ENST00000281513.5	-	36	4205		c.e36-1		NBAS_ENST00000441750.1_Splice_Site	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence											NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTACTTCATCCTGTATTAAAG	0.403000													16	27					0	0	0.004990	0	0
GCKR	2646	broad.mit.edu	37	2	27726415	27726415	+	Nonsense_Mutation	SNP	C	C	T	rs149847328		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:27726415C>T	ENST00000264717.2	+	9	742	c.679C>T	c.(679-681)Cga>Tga	p.R227*	GCKR_ENST00000424318.2_Nonsense_Mutation_p.R37*	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	227	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TTCAACATTCCGACAAGTAGC	0.493000													17	24					0	0	0.007413	0	0
DACT1	51339	broad.mit.edu	37	14	59112267	59112267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:59112267C>T	ENST00000395153.3	+	4	962	c.815C>T	c.(814-816)tCt>tTt	p.S272F	DACT1_ENST00000335867.4_Missense_Mutation_p.S309F|DACT1_ENST00000556859.1_Missense_Mutation_p.S28F|DACT1_ENST00000541264.2_Missense_Mutation_p.S28F|DACT1_ENST00000395151.3_Missense_Mutation_p.S28F	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	309					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGCGGTGGATCTGAGCTAGAT	0.522000													20	42					0	0	0.014323	0	0
ASZ1	136991	broad.mit.edu	37	7	117025764	117025764	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:117025764C>T	ENST00000284629.2	-	5	602	c.540G>A	c.(538-540)gaG>gaA	p.E180E		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	180					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TGTAACCATTCTCATCCTGGG	0.358000													23	71					0	0	0.003954	0	0
USP53	54532	broad.mit.edu	37	4	120194808	120194808	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:120194808C>T	ENST00000450251.1	+	13	2740	c.2196C>T	c.(2194-2196)aaC>aaT	p.N732N	USP53_ENST00000274030.6_Silent_p.N732N			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	732					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						CGACAAGCAACCTAAATAAAG	0.323000													5	32					0	0	0.001168	0	0
PTPN22	26191	broad.mit.edu	37	1	114372627	114372627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:114372627G>A	ENST00000359785.5	-	17	2213	c.2078C>T	c.(2077-2079)cCc>cTc	p.P693L	PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.P693L|PTPN22_ENST00000538253.1_Missense_Mutation_p.P449L|PTPN22_ENST00000528414.1_Missense_Mutation_p.P638L|PTPN22_ENST00000525799.1_Missense_Mutation_p.P566L	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	693					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGAGGTGGGGGAGAAGAACG	0.363000													22	26					0	0	0.004656	0	0
TDGF1	6997	broad.mit.edu	37	3	46621317	46621317	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:46621317G>A	ENST00000296145.5	+	4	1045	c.312G>A	c.(310-312)cgG>cgA	p.R104R	TDGF1_ENST00000542931.1_Silent_p.R88R|LRRC2_ENST00000296144.3_Intron	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	104	EGF-like.				activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TCTACGGACGGAACTGTGAGC	0.547000													57	92					0	0	0.014410	0	0
FIGF	2277	broad.mit.edu	37	X	15373286	15373286	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:15373286G>A	ENST00000297904.3	-	4	1056	c.627C>T	c.(625-627)atC>atT	p.I209I		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	209					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					CTTCTTCAGGGATCTGGATGG	0.388000													38	91					0	0	0.009718	0	0
ACOX3	8310	broad.mit.edu	37	4	8394159	8394159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:8394159G>A	ENST00000356406.5	-	11	1278	c.1201C>T	c.(1201-1203)Cac>Tac	p.H401Y	ACOX3_ENST00000503233.1_Missense_Mutation_p.H401Y|ACOX3_ENST00000413009.2_Missense_Mutation_p.H401Y	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	401					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCCAGGGCGTGGATCTCACGT	0.552000													77	156					0	0	0.014410	0	0
BACH2	60468	broad.mit.edu	37	6	90660444	90660444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:90660444G>A	ENST00000257749.4	-	7	2088	c.1381C>T	c.(1381-1383)Ccg>Tcg	p.P461S	BACH2_ENST00000343122.3_Missense_Mutation_p.P461S|BACH2_ENST00000537989.1_Missense_Mutation_p.P461S|RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	461						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TTTGGCACCGGCTCAGAGAGG	0.617000													29	18					0	0	0.009535	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698246	111698246	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:111698246A>T	ENST00000340433.2	+	1	520	c.290A>T	c.(289-291)aAa>aTa	p.K97I		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	97							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCCCAGATCAAACTCTTTTTT	0.418000													36	73					0	0	0.003755	0	0
ASXL3	80816	broad.mit.edu	37	18	31319226	31319226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:31319226G>A	ENST00000269197.5	+	11	1858	c.1858G>A	c.(1858-1860)Gga>Aga	p.G620R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	620	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAGCCCAGAGGGAGCCTGTAC	0.483000													8	18					0	0	0.003080	0	0
GSG1L	146395	broad.mit.edu	37	16	27802769	27802769	+	Silent	SNP	C	C	T	rs139721269		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:27802769C>T	ENST00000380898.2	-	8	1056	c.507G>A	c.(505-507)gcG>gcA	p.A169A	GSG1L_ENST00000569166.1_Silent_p.A169A|GSG1L_ENST00000395724.3_Silent_p.A255A|GSG1L_ENST00000447459.2_Silent_p.A306A|GSG1L_ENST00000380897.3_Silent_p.A151A			Q6UXU4	GSG1L_HUMAN	GSG1-like	306						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						GCCAGGAATCCGCCATGTGTG	0.647000													13	23					0	0	0.002450	0	0
SLIT2	9353	broad.mit.edu	37	4	20568996	20568996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:20568996C>T	ENST00000504154.1	+	27	3089	c.2837C>T	c.(2836-2838)cCa>cTa	p.P946L	SLIT2_ENST00000503837.1_Missense_Mutation_p.P942L|SLIT2_ENST00000503823.1_Missense_Mutation_p.P938L|SLIT2_ENST00000273739.5_Missense_Mutation_p.P950L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	946	EGF-like 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGCACCTGTCCATATGGTTTC	0.383000													41	102					0	0	0.010771	0	0
RPTN	126638	broad.mit.edu	37	1	152127305	152127305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:152127305C>T	ENST00000316073.3	-	3	2334	c.2270G>A	c.(2269-2271)cGa>cAa	p.R757Q		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	757	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTGCCTGTCTCGTCTCTGATG	0.512000													172	310					0	0	0.014410	0	0
FRMPD4	9758	broad.mit.edu	37	X	12722489	12722489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:12722489G>A	ENST00000380682.1	+	11	1588	c.1082G>A	c.(1081-1083)gGa>gAa	p.G361E		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	361	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAAGAATGGGGATTAGAGACT	0.358000													35	70					0	0	0.004289	0	0
B3GAT3	26229	broad.mit.edu	37	11	62383255	62383255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:62383255G>A	ENST00000265471.5	-	5	1153	c.926C>T	c.(925-927)aCt>aTt	p.T309I	B3GAT3_ENST00000531383.1_3'UTR	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	309					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CTCTGTCCGAGTATGCCACAC	0.637000													9	23					0	0	0.004482	0	0
HDAC6	10013	broad.mit.edu	37	X	48681659	48681659	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:48681659G>A	ENST00000334136.5	+	25	3028	c.2850G>A	c.(2848-2850)caG>caA	p.Q950Q	HDAC6_ENST00000376619.2_Silent_p.Q950Q|HDAC6_ENST00000444343.2_Silent_p.Q964Q			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	950					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CTCCGGACCAGACCACCTCAG	0.642000													9	10					0	0	0.004482	0	0
CDH18	1016	broad.mit.edu	37	5	19520879	19520879	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:19520879C>G	ENST00000507958.1	-	12	2389	c.1399G>C	c.(1399-1401)Gat>Cat	p.D467H	CDH18_ENST00000506372.1_Missense_Mutation_p.D467H|CDH18_ENST00000502796.1_Missense_Mutation_p.D467H|CDH18_ENST00000274170.4_Missense_Mutation_p.D467H|CDH18_ENST00000382275.1_Missense_Mutation_p.D467H|CDH18_ENST00000511273.1_Missense_Mutation_p.D467H			Q13634	CAD18_HUMAN	cadherin 18, type 2	467	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTCAGCAAATCAGGATTATCT	0.373000													58	113					0	0	0.014410	0	0
FBXO40	51725	broad.mit.edu	37	3	121342087	121342087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:121342087G>A	ENST00000338040.4	+	3	2225	c.1811G>A	c.(1810-1812)aGg>aAg	p.R604K		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	604	F-box.				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.R604K(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GTGCTGATGAGGAATATCTGT	0.498000													37	64					0	0	0.004878	0	0
OCA2	4948	broad.mit.edu	37	15	28196952	28196952	+	Silent	SNP	G	G	A	rs138985876		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:28196952G>A	ENST00000354638.3	-	18	2084	c.1929C>T	c.(1927-1929)gtC>gtT	p.V643V	OCA2_ENST00000353809.5_Silent_p.V619V|OCA2_ENST00000382996.2_Silent_p.V643V	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	643					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GAATGCCAGGGACAAACGAAT	0.433000									Oculocutaneous Albinism				19	26					0	0	0.008871	0	0
BCL9L	283149	broad.mit.edu	37	11	118769512	118769512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:118769512G>A	ENST00000334801.3	-	8	5076	c.4112C>T	c.(4111-4113)cCc>cTc	p.P1371L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1371	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGGCCGAGAGGGAGTCTGCTC	0.627000													19	21					0	0	0.007413	0	0
MECOM	2122	broad.mit.edu	37	3	168818731	168818731	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:168818731G>A	ENST00000464456.1	-	10	3400	c.2200C>T	c.(2200-2202)Cca>Tca	p.P734S	MECOM_ENST00000460814.1_Missense_Mutation_p.P734S|MECOM_ENST00000494292.1_Missense_Mutation_p.P922S|MECOM_ENST00000433243.2_Missense_Mutation_p.P744S|MECOM_ENST00000468789.1_Missense_Mutation_p.P743S|MECOM_ENST00000392736.3_Missense_Mutation_p.P743S|MECOM_ENST00000264674.3_Missense_Mutation_p.P808S|MECOM_ENST00000472280.1_Missense_Mutation_p.P744S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GCAGACCTTGGAAAAATCTTG	0.393000													19	51					0	0	0.002780	0	0
MED12L	116931	broad.mit.edu	37	3	151073808	151073808	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:151073808T>A	ENST00000474524.1	+	17	2575	c.2537T>A	c.(2536-2538)cTa>cAa	p.L846Q	MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Missense_Mutation_p.L706Q|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	846					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCAACGGACTAATTGACTTC	0.433000													35	49					0	0	0.004289	0	0
ISOC1	51015	broad.mit.edu	37	5	128448568	128448568	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:128448568C>T	ENST00000173527.5	+	5	787	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	257						peroxisome	catalytic activity			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		GAACCGGGATCATAGTGACCA	0.428000													32	67					0	0	0.012213	0	0
ARID1B	57492	broad.mit.edu	37	6	157469767	157469767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:157469767C>T	ENST00000346085.5	+	9	2562	c.2561C>T	c.(2560-2562)tCc>tTc	p.S854F	ARID1B_ENST00000367148.1_Missense_Mutation_p.S841F|ARID1B_ENST00000350026.5_Missense_Mutation_p.S841F|ARID1B_ENST00000275248.4_Missense_Mutation_p.S783F	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	841					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGTAACTACTCCAGACCCCCA	0.478000													25	23					0	0	0.003954	0	0
CLIC6	54102	broad.mit.edu	37	21	36043035	36043035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:36043035G>A	ENST00000360731.3	+	1	1348	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K	CLIC6_ENST00000349499.2_Missense_Mutation_p.E450K			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	450						chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						CCTGGGGCAGGAGCACGACAT	0.677000													3	13					0	0	0.004672	0	0
PDZD4	57595	broad.mit.edu	37	X	153070250	153070250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:153070250C>T	ENST00000164640.4	-	8	1059	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	PDZD4_ENST00000544474.1_Missense_Mutation_p.E181K|PDZD4_ENST00000393758.2_Missense_Mutation_p.E215K	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	290						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGCTCTCTTCGTTCCGGGTG	0.672000													18	42					0	0	0.007413	0	0
RGS9	8787	broad.mit.edu	37	17	63193253	63193253	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:63193253C>T	ENST00000449996.3	+	13	933	c.861C>T	c.(859-861)atC>atT	p.I287I	RGS9_ENST00000443584.3_Silent_p.I287I|RGS9_ENST00000262406.9_Silent_p.I290I	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	290					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GGGTGGAAATCCCAACCAAGA	0.527000													4	18					0	0	0.009096	0	0
USP11	8237	broad.mit.edu	37	X	47102899	47102899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:47102899C>T	ENST00000377107.2	+	13	2042	c.1688C>T	c.(1687-1689)tCc>tTc	p.S563F	USP11_ENST00000218348.3_Missense_Mutation_p.S606F			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	606					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TACAACAACTCCTACTACGGC	0.597000													32	37					0	0	0.010818	0	0
TNXB	7148	broad.mit.edu	37	6	32023718	32023718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:32023718C>T	ENST00000375244.3	-	24	8578	c.8377G>A	c.(8377-8379)Ggc>Agc	p.G2793S	TNXB_ENST00000375247.2_Missense_Mutation_p.G2793S			P22105	TENX_HUMAN	tenascin XB	2851					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCTCCAGGCCCCCCACGGTG	0.672000													75	81					0	0	0.014410	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967243	41967243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:41967243G>A	ENST00000298919.7	+	10	2270	c.1882G>A	c.(1882-1884)Gaa>Aaa	p.E628K	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E630K|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E888K			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	888							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCCCAAGATGGAATGGAAGGT	0.488000													30	62					0	0	0.010818	0	0
BRD1	23774	broad.mit.edu	37	22	50167906	50167906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:50167906G>A	ENST00000216267.8	-	12	3638	c.3152C>T	c.(3151-3153)aCc>aTc	p.T1051I	BRD1_ENST00000404760.1_Missense_Mutation_p.T1182I|BRD1_ENST00000542442.1_Missense_Mutation_p.T739I|BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000342989.5_Missense_Mutation_p.T777I|BRD1_ENST00000404034.1_Missense_Mutation_p.T1051I	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	1051					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GAGGTCGCTGGTCGGCTCCCC	0.547000													77	140					0	0	0.014410	0	0
FAM47B	170062	broad.mit.edu	37	X	34962619	34962619	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:34962619G>A	ENST00000329357.5	+	1	1707	c.1671G>A	c.(1669-1671)ttG>ttA	p.L557L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	557										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGCCTAAGTTGGGGAAAAAGC	0.493000													55	82					0	0	0.014410	0	0
CSDE1	7812	broad.mit.edu	37	1	115276669	115276669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:115276669C>T	ENST00000438362.2	-	8	1168	c.790G>A	c.(790-792)Ggt>Agt	p.G264S	CSDE1_ENST00000369530.1_Missense_Mutation_p.G233S|CSDE1_ENST00000358528.4_Missense_Mutation_p.G218S|CSDE1_ENST00000530886.1_Missense_Mutation_p.G88S|CSDE1_ENST00000261443.5_Missense_Mutation_p.G187S|CSDE1_ENST00000339438.6_Missense_Mutation_p.G187S|CSDE1_ENST00000534699.1_Missense_Mutation_p.G218S	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	218					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTAAGTCACCCTTAAATTCA	0.353000													25	47					0	0	0.002780	0	0
GDPD1	284161	broad.mit.edu	37	17	57348355	57348355	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:57348355C>T	ENST00000284116.4	+	8	906	c.770_splice	c.e8+1	p.L257_splice	GDPD1_ENST00000581276.1_Splice_Site_p.L257_splice|GDPD1_ENST00000581140.1_Splice_Site_p.L257_splice	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	257	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GCTTTCTGATCTGTAAGAATT	0.308000													29	83					0	0	0.007291	0	0
CCDC11	220136	broad.mit.edu	37	18	47777163	47777163	+	Silent	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:47777163A>G	ENST00000398545.4	-	5	1078	c.961T>C	c.(961-963)Tta>Cta	p.L321L		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	321										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCTTCCTGTAAGTCTTGAAGG	0.423000													99	190					0	0	0.014410	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68274415	68274415	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:68274415G>A	ENST00000347230.4	-	5	724	c.586C>T	c.(586-588)Ctc>Ttc	p.L196F	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.L196F	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	196					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TTTCGAATGAGGTCCACCAGT	0.632000													62	86					0	0	0.014410	0	0
C3orf20	84077	broad.mit.edu	37	3	14725882	14725882	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:14725882G>A	ENST00000253697.3	+	4	1070	c.618G>A	c.(616-618)ttG>ttA	p.L206L	C3orf20_ENST00000412910.1_Silent_p.L84L|C3orf20_ENST00000435614.1_Silent_p.L84L	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	206						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GCGGACAGTTGTGGAAAGGTG	0.522000													25	48					0	0	0.007291	0	0
TRRAP	8295	broad.mit.edu	37	7	98507808	98507808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:98507808C>T	ENST00000359863.4	+	15	1689	c.1480C>T	c.(1480-1482)Cct>Tct	p.P494S	TRRAP_ENST00000355540.3_Missense_Mutation_p.P494S|TRRAP_ENST00000446306.3_Missense_Mutation_p.P494S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	494	Pro-rich.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCTGCAGCTCCTGGCCCTGC	0.677000													65	62					0	0	0.014410	0	0
LRBA	987	broad.mit.edu	37	4	151753103	151753103	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:151753103A>G	ENST00000535741.1	-	29	5068	c.4595T>C	c.(4594-4596)tTa>tCa	p.L1532S	LRBA_ENST00000357115.3_Missense_Mutation_p.L1532S|LRBA_ENST00000507224.1_Missense_Mutation_p.L1532S|LRBA_ENST00000510413.1_Missense_Mutation_p.L1532S			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1532						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGCCAAGGCTAAAAATTGAGC	0.333000													32	73					0	0	0.005524	0	0
SETD3	84193	broad.mit.edu	37	14	99865352	99865352	+	Silent	SNP	A	A	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:99865352A>C	ENST00000331768.5	-	13	1608	c.1449T>G	c.(1447-1449)gcT>gcG	p.A483A		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	483					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CCCGGTTGACAGCTGCACTCT	0.473000													54	88					0	0	0.014410	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558522	140558522	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140558522C>T	ENST00000239444.2	+	1	1152	c.907C>T	c.(907-909)Cga>Tga	p.R303*		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		303	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGAAATTCGACTAAAGAA	0.393000													60	253					0	0	0.014410	0	0
ELN	2006	broad.mit.edu	37	7	73474218	73474218	+	Silent	SNP	T	T	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:73474218T>C	ENST00000252034.7	+	23	1816	c.1417T>C	c.(1417-1419)Tta>Cta	p.L473L	ELN_ENST00000358929.4_Silent_p.L508L|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000320492.7_Silent_p.L392L|ELN_ENST00000320399.6_Silent_p.L473L|ELN_ENST00000380562.4_Silent_p.L479L|ELN_ENST00000357036.5_Silent_p.L478L|ELN_ENST00000445912.1_Silent_p.L473L|ELN_ENST00000414324.1_Silent_p.L449L|ELN_ENST00000458204.1_Silent_p.L463L|ELN_ENST00000429192.1_Silent_p.L459L|ELN_ENST00000380553.4_Silent_p.L337L|ELN_ENST00000380584.4_Silent_p.L440L|ELN_ENST00000380576.5_Silent_p.L454L|ELN_ENST00000380575.4_Silent_p.L444L	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	502	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TCTTGCAGGGTTAGTTCCTGG	0.567000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						87	258					0	0	0.014410	0	0
BACH2	60468	broad.mit.edu	37	6	90660443	90660443	+	Missense_Mutation	SNP	G	G	A	rs144153232		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:90660443G>A	ENST00000257749.4	-	7	2089	c.1382C>T	c.(1381-1383)cCg>cTg	p.P461L	BACH2_ENST00000343122.3_Missense_Mutation_p.P461L|BACH2_ENST00000537989.1_Missense_Mutation_p.P461L|RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	461						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTTTGGCACCGGCTCAGAGAG	0.617000													29	18					0	0	0.009535	0	0
ACAN	176	broad.mit.edu	37	15	89401900	89401900	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:89401900C>T	ENST00000439576.2	+	12	6458	c.6084C>T	c.(6082-6084)gcC>gcT	p.A2028A	ACAN_ENST00000352105.7_Silent_p.A2028A|ACAN_ENST00000559004.1_Silent_p.A2028A|ACAN_ENST00000561243.1_Silent_p.A2028A	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2028					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGAGAGGCCTCAGGACTTC	0.507000													18	40					0	0	0.004990	0	0
C6	729	broad.mit.edu	37	5	41149459	41149459	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:41149459G>A	ENST00000263413.3	-	17	2771	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F	C6_ENST00000337836.5_Missense_Mutation_p.S836F	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	836	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTCTTGGCAGGAACCAATATG	0.423000													72	100					0	0	0.014410	0	0
CSMD1	64478	broad.mit.edu	37	8	2886915	2886915	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:2886915A>T	ENST00000602557.1	-	52	8339	c.7784T>A	c.(7783-7785)tTa>tAa	p.L2595*	CSMD1_ENST00000602723.1_Nonsense_Mutation_p.L2595*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.L2594*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.L2594*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.L2595*|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.L2595*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2595	Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCAGCCTTCTAAGTAGTAACC	0.542000													10	15					0	0	0.008291	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844929	18844929	+	RNA	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:18844929C>T	ENST00000412938.1	+	0	3179																											ACGTCCATCTCGCTCATCATC	0.572000													8	35					0	0	0.004482	0	0
ZNF705A	440077	broad.mit.edu	37	12	8330138	8330138	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:8330138C>T	ENST00000359286.4	+	5	951	c.862C>T	c.(862-864)Cta>Tta	p.L288L		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		TGCTTGTCTTCTATGTGGGAA	0.418000													38	66					0	0	0.014410	0	0
ANKLE1	126549	broad.mit.edu	37	19	17396327	17396327	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:17396327C>T	ENST00000394458.3	+	7	1740	c.1464C>T	c.(1462-1464)ggC>ggT	p.G488G	ANKLE1_ENST00000404085.1_Silent_p.G484G|ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Silent_p.G462G|ANKLE1_ENST00000594072.1_Silent_p.G451G	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	488						nuclear envelope		p.G488G(1)|p.G448G(1)		large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TCTACGTGGGCAAAGGGACGA	0.612000													54	104					0	0	0.014410	0	0
KRT76	51350	broad.mit.edu	37	12	53170631	53170631	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:53170631C>A	ENST00000332411.2	-	1	498	c.445G>T	c.(445-447)Ggg>Tgg	p.G149W		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	149	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGAAAGCCCCCAGGGCCAAAG	0.577000													7	20					0.00198382	0.00201848	0.001984	1	0
MPO	4353	broad.mit.edu	37	17	56357732	56357732	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:56357732C>T	ENST00000340482.3	-	2	419	c.243G>A	c.(241-243)cgG>cgA	p.R81R	MPO_ENST00000225275.3_Silent_p.R81R			P05164	PERM_HUMAN	myeloperoxidase	81					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CCCACCTTTCCCGCCGCTCCT	0.647000													11	22					0	0	0.013537	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270072	1270072	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:1270072G>A	ENST00000348261.5	+	35	6388	c.6140G>A	c.(6139-6141)aGg>aAg	p.R2047K	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R2041K|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R2041K	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2047					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACCCCGGTGAGGCCGGTGACC	0.662000													3	7					0	0	0.004672	0	0
SENP2	59343	broad.mit.edu	37	3	185307940	185307940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:185307940C>T	ENST00000296257.5	+	2	380	c.140C>T	c.(139-141)gCc>gTc	p.A47V	SENP2_ENST00000427465.2_5'UTR|SENP2_ENST00000545472.1_Missense_Mutation_p.A37V|SENP2_ENST00000465201.1_3'UTR	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	47					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GAAATACCAGCCAAAAGACCA	0.259000													12	27					0	0	0.004990	0	0
PEG3	5178	broad.mit.edu	37	19	57325061	57325061	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:57325061C>T	ENST00000326441.9	-	10	5112	c.4749G>A	c.(4747-4749)caG>caA	p.Q1583Q	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Silent_p.Q1459Q|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.Q1583Q|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.Q1457Q	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1583					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGTGGGTATTCTGGTGTCTGG	0.507000													17	43					0	0	0.010504	0	0
ASB10	136371	broad.mit.edu	37	7	150873316	150873316	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:150873316G>A	ENST00000422024.1	-	5	1547	c.1422C>T	c.(1420-1422)agC>agT	p.S474S	ASB10_ENST00000420175.2_Silent_p.S429S|ASB10_ENST00000434669.1_Silent_p.S436S|ASB10_ENST00000275838.1_Silent_p.S391S|ASB10_ENST00000377867.3_Silent_p.S414S	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	429					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGCACAGCGGCTCAAATGCT	0.662000													16	46					0	0	0.006122	0	0
RDH8	50700	broad.mit.edu	37	19	10131441	10131441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:10131441G>A	ENST00000591589.1	+	4	748	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	RDH8_ENST00000171214.1_Missense_Mutation_p.E167K			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	167					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GGGATTCTTCGAAAGCCTCGC	0.582000													14	19					0	0	0.004007	0	0
PTK2B	2185	broad.mit.edu	37	8	27308398	27308398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:27308398G>A	ENST00000397501.1	+	30	3281	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K	PTK2B_ENST00000338238.4_Missense_Mutation_p.E783K|PTK2B_ENST00000397497.4_Missense_Mutation_p.E529K|PTK2B_ENST00000420218.2_Missense_Mutation_p.E783K|PTK2B_ENST00000517339.1_Missense_Mutation_p.E783K|PTK2B_ENST00000544172.1_Missense_Mutation_p.E825K|PTK2B_ENST00000346049.5_Missense_Mutation_p.E825K	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	825	Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GCTCAGGCAGGAGGAGAAGTC	0.607000													9	16					0	0	0.006214	0	0
IRS4	8471	broad.mit.edu	37	X	107979255	107979255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:107979255G>A	ENST00000372129.2	-	1	396	c.320C>T	c.(319-321)gCt>gTt	p.A107V		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	107	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TTCCAGCCGAGCTGGGGCGTC	0.667000													34	76					0	0	0.004878	0	0
MYO3B	140469	broad.mit.edu	37	2	171371479	171371479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:171371479G>A	ENST00000334231.6	+	29	3446	c.3446G>A	c.(3445-3447)gGt>gAt	p.G1149D	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.G1140D|MYO3B_ENST00000409044.3_Missense_Mutation_p.G1113D			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1140					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GTCGCAGCAGGTACGAGGGGA	0.493000													14	12					0	0	0.003163	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642939	1642939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:1642939C>T	ENST00000399682.1	-	1	429	c.385G>A	c.(385-387)Gga>Aga	p.G129R		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	129	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCACAGCCTCCTTTGGAGCCC	0.652000													48	96					0	0	0.014410	0	0
COL9A3	1299	broad.mit.edu	37	20	61453960	61453960	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:61453960C>T	ENST00000343916.3	+	10	498	c.495C>T	c.(493-495)ctC>ctT	p.L165L		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	165	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CAGGAGTCCTCCCTGAAGGCG	0.612000													26	55					0	0	0.006320	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349665	36349665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:36349665C>T	ENST00000360202.5	+	4	619	c.421C>T	c.(421-423)Cct>Tct	p.P141S	KIRREL2_ENST00000347900.6_Missense_Mutation_p.P91S|KIRREL2_ENST00000592409.1_Missense_Mutation_p.P141S|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Missense_Mutation_p.P141S|KIRREL2_ENST00000586102.2_Missense_Mutation_p.P141S	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	141	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCTGGAGTTCCTGCGAACCT	0.612000													40	51					0	0	0.007835	0	0
ZDHHC18	84243	broad.mit.edu	37	1	27158942	27158942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:27158942C>T	ENST00000374142.3	+	2	435	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S		NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	114						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		TTCTAGCTGTCCCTACCTGGC	0.592000													79	146					0	0	0.014410	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561224	44561224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:44561224C>T	ENST00000332567.4	-	1	764	c.412G>A	c.(412-414)Ggg>Agg	p.G138R	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	138					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTCTGTTGCCCCGGAGGTGTT	0.642000													44	83					0	0	0.013114	0	0
CARF	79800	broad.mit.edu	37	2	203806695	203806695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:203806695G>A	ENST00000320443.8	+	3	1113	c.70G>A	c.(70-72)Gta>Ata	p.V24I	CARF_ENST00000438828.2_Missense_Mutation_p.V24I|CARF_ENST00000444724.1_Missense_Mutation_p.V24I|CARF_ENST00000434998.1_Intron|WDR12_ENST00000477723.1_Intron|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000428585.1_Missense_Mutation_p.V24I|CARF_ENST00000456821.2_Intron|CARF_ENST00000545253.1_Intron|CARF_ENST00000414439.1_Intron|CARF_ENST00000402905.2_Missense_Mutation_p.V24I|CARF_ENST00000545262.1_Missense_Mutation_p.V24I					calcium responsive transcription factor																		CAGTGCTCAAGTATTTGAGGT	0.373000													54	38					0	0	0.014410	0	0
MUC6	4588	broad.mit.edu	37	11	1017189	1017189	+	Missense_Mutation	SNP	G	G	A	rs71472140		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:1017189G>A	ENST00000421673.2	-	31	5662	c.5612C>T	c.(5611-5613)tCa>tTa	p.S1871L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1871	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.S1871*(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTTGGCATTGAGTGGATGGA	0.572000													41	354					0	0	0.014410	0	0
NHS	4810	broad.mit.edu	37	X	17746076	17746076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:17746076G>A	ENST00000380060.3	+	6	4125	c.3787G>A	c.(3787-3789)Gat>Aat	p.D1263N	NHS_ENST00000398097.3_Missense_Mutation_p.D1107N	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1263						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCGCCCAAATGATTTGGATGG	0.483000													38	93					0	0	0.003755	0	0
FKBP8	23770	broad.mit.edu	37	19	18649229	18649229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:18649229G>A	ENST00000597960.2	-	5	689	c.569C>T	c.(568-570)cCc>cTc	p.P190L	FKBP8_ENST00000222308.3_Missense_Mutation_p.P190L|FKBP8_ENST00000544835.2_Intron|FKBP8_ENST00000453489.2_Missense_Mutation_p.P218L|FKBP8_ENST00000596558.1_Missense_Mutation_p.P189L			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	189	PPIase FKBP-type.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CGCGTGCGGGGGGATGTATGG	0.672000													14	12					0	0	0.003163	0	0
VWA5A	4013	broad.mit.edu	37	11	124006949	124006949	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:124006949C>T	ENST00000456829.2	+	13	1724	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	VWA5A_ENST00000392748.1_Silent_p.I491I|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	491								p.I491I(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						AGACTGTCATCTTTAGGGGTC	0.493000													32	74					0	0	0.010818	0	0
XK	7504	broad.mit.edu	37	X	37545256	37545256	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:37545256C>T	ENST00000378616.3	+	1	245	c.42C>T	c.(40-42)ttC>ttT	p.F14F	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	14					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TGTTCCTGTTCGTGGCCGAGA	0.682000													8	12					0	0	0.004482	0	0
MEST	4232	broad.mit.edu	37	7	130135275	130135275	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:130135275C>T	ENST00000223215.4	+	2	314	c.93C>T	c.(91-93)atC>atT	p.I31I	MEST_ENST00000393187.1_Silent_p.I22I|MEST_ENST00000378576.4_Silent_p.I22I|MEST_ENST00000341441.4_Silent_p.I22I|MEST_ENST00000437945.1_Silent_p.I31I|MEST_ENST00000416162.2_Silent_p.I22I	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	31					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					ACCTGCACATCCCACCCCCTC	0.562000													104	95					0	0	0.014410	0	0
GPRIN3	285513	broad.mit.edu	37	4	90171259	90171259	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:90171259C>T	ENST00000333209.3	-	2	521	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	1										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GTACAGTCCCCATGGAATTTC	0.552000													44	73					0	0	0.014410	0	0
RP1	6101	broad.mit.edu	37	8	55541537	55541537	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:55541537G>A	ENST00000220676.1	+	4	5243	c.5095G>A	c.(5095-5097)Gaa>Aaa	p.E1699K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1699					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATTCCAGGAGGAAAGACAAGA	0.408000													47	96					0	0	0.014410	0	0
INPP5B	3633	broad.mit.edu	37	1	38330081	38330081	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:38330081G>A	ENST00000373023.2	-	23	2862	c.2769C>T	c.(2767-2769)ctC>ctT	p.L923L	INPP5B_ENST00000373027.1_Silent_p.L679L|INPP5B_ENST00000373024.3_Silent_p.L843L|INPP5B_ENST00000373026.1_Silent_p.L923L	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	923	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGAATATGGGGAGAGTAGAAA	0.378000													6	15					0	0	0.001984	0	0
ACSM5	54988	broad.mit.edu	37	16	20429464	20429464	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:20429464G>A	ENST00000331849.4	+	3	435	c.288G>A	c.(286-288)ggG>ggA	p.G96G	ACSM5_ENST00000575584.1_Silent_p.G96G	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	96					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AGGAGCTGGGGAAGCAGTCCA	0.622000													22	34					0	0	0.010504	0	0
GAREM	64762	broad.mit.edu	37	18	29848384	29848384	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:29848384C>G	ENST00000399218.4	-	6	2133	c.2078G>C	c.(2077-2079)gGt>gCt	p.G693A	GAREM_ENST00000269209.6_Missense_Mutation_p.G694A	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		CTTGGGACAACCAGAGACGCT	0.542000													27	68					0	0	0.006320	0	0
MGAM	8972	broad.mit.edu	37	7	141731490	141731490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:141731490G>A	ENST00000475668.2	+	13	1535	c.1481G>A	c.(1480-1482)gGa>gAa	p.G494E	MGAM_ENST00000549489.2_Missense_Mutation_p.G494E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	494	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCTGGCCTGGACAAACTGTG	0.358000													43	114					0	0	0.013114	0	0
DGKB	1607	broad.mit.edu	37	7	14188781	14188781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:14188781C>T	ENST00000403951.2	-	26	2809	c.2390G>A	c.(2389-2391)aGg>aAg	p.R797K	DGKB_ENST00000399322.3_Missense_Mutation_p.R797K|DGKB_ENST00000402815.1_Missense_Mutation_p.R796K|DGKB_ENST00000258767.5_Missense_Mutation_p.R797K|DGKB_ENST00000444700.2_Missense_Mutation_p.R778K|DGKB_ENST00000407950.1_Missense_Mutation_p.R789K			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	797					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GTTTCTTGTCCTTTTGACGAG	0.408000													64	74					0	0	0.014410	0	0
C3orf36	80111	broad.mit.edu	37	3	133647198	133647198	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:133647198C>T	ENST00000408895.2	-	1	1458	c.450G>A	c.(448-450)ctG>ctA	p.L150L		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	150										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						TTCTGACTCTCAGTTTCACCC	0.542000													23	45					0	0	0.003330	0	0
SGIP1	84251	broad.mit.edu	37	1	67147864	67147864	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:67147864T>C	ENST00000371037.4	+	15	1204	c.1127T>C	c.(1126-1128)tTa>tCa	p.L376S	SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.L380S	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	376	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCGCTCAATTTAGAAGAAGTC	0.537000													73	111					0	0	0.014410	0	0
SERPINA9	327657	broad.mit.edu	37	14	94929540	94929540	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:94929540G>A	ENST00000337425.5	-	5	1272	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	SERPINA9_ENST00000448305.2_Missense_Mutation_p.P302S|SERPINA9_ENST00000380365.3_Missense_Mutation_p.P382S|SERPINA9_ENST00000298845.7_Missense_Mutation_p.P300S|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000424550.2_Missense_Mutation_p.P251S	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	382					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AAGTAAGAGGGGCCATCCTTC	0.498000													37	82					0	0	0.006999	0	0
KCNQ1	3784	broad.mit.edu	37	11	2790146	2790146	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:2790146C>T	ENST00000155840.5	+	12	1695	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	KCNQ1_ENST00000335475.5_Silent_p.F402F	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	529					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	AGAAGAAATTCCAGGTAAGCC	0.582000													15	43					0	0	0.006122	0	0
OR5J2	282775	broad.mit.edu	37	11	55944743	55944743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:55944743C>T	ENST00000312298.1	+	1	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GTGATCATTTCCTACATCTTC	0.488000													33	74					0	0	0.013726	0	0
DNAH10	196385	broad.mit.edu	37	12	124399434	124399434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:124399434C>T	ENST00000409039.3	+	61	10281	c.10256C>T	c.(10255-10257)tCc>tTc	p.S3419F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3419	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GATGAGCTCTCCGTTCAGAAT	0.557000													10	13					0	0	0.013537	0	0
KRT75	9119	broad.mit.edu	37	12	52828044	52828044	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:52828044C>T	ENST00000252245.5	-	1	265	c.45G>A	c.(43-45)agG>agA	p.R15R		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	15	Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGCTGAAGCCCCTGCGGCTGC	0.677000													19	12					0	0	0.008871	0	0
SYTL4	94121	broad.mit.edu	37	X	99956463	99956463	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:99956463G>A	ENST00000372981.1	-	3	503	c.317C>T	c.(316-318)gCc>gTc	p.A106V	SYTL4_ENST00000276141.6_Missense_Mutation_p.A106V|SYTL4_ENST00000263033.5_Missense_Mutation_p.A106V|SYTL4_ENST00000372989.1_Missense_Mutation_p.A106V|SYTL4_ENST00000454200.2_Missense_Mutation_p.A106V|SYTL4_ENST00000455616.1_Missense_Mutation_p.A106V			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	106	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATTTCCTTGGCGCACACCTT	0.512000													41	90					0	0	0.011902	0	0
ANKHD1	54882	broad.mit.edu	37	5	139908476	139908476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:139908476C>T	ENST00000297183.6	+	29	6069	c.5945C>T	c.(5944-5946)aCt>aTt	p.T1982I	ANKHD1_ENST00000544120.1_Missense_Mutation_p.T365I|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.T1982I|ANKHD1_ENST00000360839.2_Missense_Mutation_p.T1982I	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACAAGCACTTGTAGTTCC	0.488000													104	164					0	0	0.014410	0	0
POU3F4	5456	broad.mit.edu	37	X	82763742	82763742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:82763742C>T	ENST00000373200.2	+	1	474	c.410C>T	c.(409-411)cCt>cTt	p.P137L	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	137					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TACTCGCAGCCTGGCTTCACC	0.682000													8	7					0	0	0.003080	0	0
KCNK18	338567	broad.mit.edu	37	10	118969252	118969252	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:118969252C>T	ENST00000334549.1	+	3	597	c.597C>T	c.(595-597)gtC>gtT	p.V199V		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	199						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		ATGAAGCTGTCCCTCAGATCA	0.532000													40	24					0	0	0.006230	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913440	77913440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:77913440C>T	ENST00000321110.1	-	2	773	c.478G>A	c.(478-480)Gat>Aat	p.D160N		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	160	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTTGGGGGATCCTGGGGTTCT	0.562000													28	50					0	0	0.006320	0	0
IRGQ	126298	broad.mit.edu	37	19	44097396	44097396	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:44097396C>T	ENST00000422989.1	-	3	809	c.654G>A	c.(652-654)gaG>gaA	p.E218E	IRGQ_ENST00000602269.1_Silent_p.E218E	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	218							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TGCCCAGGCGCTCCAGGCCTG	0.672000													30	50					0	0	0.008361	0	0
OR2T12	127064	broad.mit.edu	37	1	248458252	248458252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:248458252G>A	ENST00000317996.1	-	1	628	c.629C>T	c.(628-630)tCc>tTc	p.S210F		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CAGGATGAGGGAAAAGGGGAC	0.547000													36	75					0	0	0.004878	0	0
GPR111	222611	broad.mit.edu	37	6	47650308	47650308	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:47650308C>T	ENST00000398742.2	+	5	1858	c.1809C>T	c.(1807-1809)atC>atT	p.I603I	GPR111_ENST00000296862.1_Silent_p.I671I|GPR111_ENST00000507065.1_Silent_p.I603I			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	671					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCACTGTCATCGATGACAGAT	0.493000													25	71					0	0	0.004656	0	0
LHCGR	3973	broad.mit.edu	37	2	48915500	48915500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:48915500C>T	ENST00000294954.7	-	11	1457	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.R452Q|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.R417Q	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	479					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.R479L(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ATGTCTTAATCGCAGCTTTTG	0.448000													33	40					0	0	0.013726	0	0
TMEM108	66000	broad.mit.edu	37	3	133114782	133114782	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:133114782C>T	ENST00000321871.6	+	6	1890	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F	TMEM108_ENST00000508711.1_Silent_p.F90F|TMEM108_ENST00000393130.3_Silent_p.F560F	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	560						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTAACCCCTTCTGTCAAGAAA	0.478000													25	50					0	0	0.004656	0	0
LRRC15	131578	broad.mit.edu	37	3	194081252	194081252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:194081252C>T	ENST00000347624.3	-	2	606	c.521G>A	c.(520-522)gGa>gAa	p.G174E	LRRC15_ENST00000428839.1_Missense_Mutation_p.G180E|LRRC15_ENST00000439944.2_Missense_Mutation_p.G180E	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	174						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CTTCGTGAGTCCTACCAGGTG	0.592000													76	155					0	0	0.014410	0	0
PPM1J	333926	broad.mit.edu	37	1	113253642	113253642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:113253642C>T	ENST00000606505.1	-	2	141	c.142G>A	c.(142-144)Gga>Aga	p.G48R	RP11-426L16.10_ENST00000471038.2_Intron|PPM1J_ENST00000309276.6_Silent_p.G366G|PPM1J_ENST00000464951.1_Silent_p.G160G|PPM1J_ENST00000359994.4_Silent_p.G160G																							TTTTGCCCTCCCCACAGACCA	0.572000													154	335					0	0	0.014410	0	0
OR51F1	256892	broad.mit.edu	37	11	4791007	4791007	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:4791007G>A	ENST00000380383.1	-	1	161	c.162C>T	c.(160-162)atC>atT	p.I54I	MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Silent_p.I47I|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	47						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGACAAACAGGATCACGCTGT	0.473000													23	31					0	0	0.014323	0	0
EFNB1	1947	broad.mit.edu	37	X	68059536	68059536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:68059536G>A	ENST00000204961.4	+	3	1216	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	146					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						GGAGGGGCTGGAAAACCGGGA	0.562000													16	20					0	0	0.008871	0	0
OR4K5	79317	broad.mit.edu	37	14	20388956	20388956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:20388956G>A	ENST00000315915.4	+	1	216	c.191G>A	c.(190-192)gGa>gAa	p.G64E		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTCTCTTGGGAAACCTTTCC	0.433000													91	499					0	0	0.014410	0	0
MYOT	9499	broad.mit.edu	37	5	137223044	137223044	+	Silent	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:137223044A>G	ENST00000239926.4	+	10	1841	c.1467A>G	c.(1465-1467)caA>caG	p.Q489Q	RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000515645.1_Silent_p.Q374Q|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Silent_p.Q305Q	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	myotilin	489	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGCAGCTCAATCTGGACTCT	0.328000													40	47					0	0	0.010771	0	0
DSCAM	1826	broad.mit.edu	37	21	41424029	41424029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:41424029G>A	ENST00000400454.1	-	30	5518	c.5041C>T	c.(5041-5043)Cgc>Tgc	p.R1681C		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1681					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACCGTGGAGCGATCATCTACA	0.517000													31	50					0	0	0.010818	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44811380	44811380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:44811380C>T	ENST00000260327.4	+	11	1689	c.1126C>T	c.(1126-1128)Cgt>Tgt	p.R376C	CTDSPL2_ENST00000396780.1_Missense_Mutation_p.R304C|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.R376C|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.R304C	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	376	FCP1 homology.						phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		CCGGCTTTTCCGTGAACATTG	0.279000													17	25					0	0	0.004007	0	0
DDR1	780	broad.mit.edu	37	6	30862330	30862330	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:30862330C>T	ENST00000324771.8	+	13	1943	c.1395C>T	c.(1393-1395)gtC>gtT	p.V465V	DDR1_ENST00000418800.2_Silent_p.V465V|DDR1_ENST00000508312.1_Silent_p.V483V|DDR1_ENST00000452441.1_Silent_p.V465V|DDR1_ENST00000376569.3_Silent_p.V465V|DDR1_ENST00000376568.3_Silent_p.V465V|DDR1_ENST00000376570.4_Silent_p.V465V|DDR1_ENST00000513240.1_Silent_p.V465V|DDR1_ENST00000454612.2_Silent_p.V465V|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376567.2_Silent_p.V465V|DDR1_ENST00000376575.3_Silent_p.V465V			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	465					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	ACCTCTCTGTCCCTGGGGACA	0.632000													86	49					0	0	0.014410	0	0
PPP2R3B	28227	broad.mit.edu	37	X	295174	295174	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:295174C>T	ENST00000390665.3	-	13	1674	c.1656G>A	c.(1654-1656)gaG>gaA	p.E552E		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	552					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		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)				GTGAGGGCGCCTCGAAGAAGG	0.716000													11	21					0	0	0.013537	0	0
ALOX15B	247	broad.mit.edu	37	17	7951773	7951773	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:7951773C>T	ENST00000380183.4	+	14	2060	c.1921C>T	c.(1921-1923)Cag>Tag	p.Q641*	ALOX15B_ENST00000380173.2_Nonsense_Mutation_p.Q612*|ALOX15B_ENST00000573359.1_Nonsense_Mutation_p.Q567*|ALOX15B_ENST00000572022.1_Nonsense_Mutation_p.Q629*	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	641	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CGCCACCTTCCAGAGCCGCCT	0.652000													26	39					0	0	0.003330	0	0
DAZL	1618	broad.mit.edu	37	3	16635245	16635245	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:16635245C>T	ENST00000250863.8	-	9	999	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	DAZL_ENST00000399444.2_Missense_Mutation_p.E218K	NM_001190811.1	NP_001177740.1	Q92904	DAZL_HUMAN	deleted in azoospermia-like	218					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						GGATCAACTTCATTACAGTGG	0.343000													16	22					0	0	0.006122	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669350	234669350	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:234669350C>T	ENST00000360418.3	+	1	417	c.417C>T	c.(415-417)tcC>tcT	p.S139S	UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000305208.5_Silent_p.S139S|UGT1A8_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron			P22309	UD11_HUMAN		139					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TCATGGCCTCCCTGGCAGAAA	0.498000													40	31					0	0	0.005524	0	0
ARID1A	8289	broad.mit.edu	37	1	27106649	27106649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:27106649G>A	ENST00000324856.7	+	20	6631	c.6260G>A	c.(6259-6261)gGa>gAa	p.G2087E	ARID1A_ENST00000374152.2_Missense_Mutation_p.G1704E|ARID1A_ENST00000540690.1_Missense_Mutation_p.G415E|ARID1A_ENST00000457599.2_Missense_Mutation_p.G1870E	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2087					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G2087E(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTCCTGGACGGACTCCTACAC	0.587000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								39	52					0	0	0.005524	0	0
GSG1L	146395	broad.mit.edu	37	16	27974478	27974478	+	Splice_Site	SNP	T	T	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:27974478T>G	ENST00000447459.2	-	2	480	c.397_splice	c.e2+1	p.K132_splice	GSG1L_ENST00000395724.3_Splice_Site_p.K132_splice|GSG1L_ENST00000380898.2_5'UTR	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	132						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CACACTCACCTTTCTCCGATG	0.532000													11	21					0	0	0.001855	0	0
MLXIPL	51085	broad.mit.edu	37	7	73014012	73014012	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:73014012G>A	ENST00000313375.3	-	8	962	c.915C>T	c.(913-915)aaC>aaT	p.N305N	MLXIPL_ENST00000395189.1_Silent_p.N212N|MLXIPL_ENST00000354613.1_Silent_p.N305N|MLXIPL_ENST00000414749.2_Silent_p.N305N|MLXIPL_ENST00000434326.1_Silent_p.N212N|MLXIPL_ENST00000429400.2_Silent_p.N305N	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	305					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAGGCGGGAGTTGGTAAAGA	0.607000													54	58					0	0	0.014410	0	0
TBX22	50945	broad.mit.edu	37	X	79282782	79282782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:79282782C>T	ENST00000442340.1	+	7	956	c.466C>T	c.(466-468)Cct>Tct	p.P156S	TBX22_ENST00000373291.1_Missense_Mutation_p.P156S|TBX22_ENST00000373294.5_Missense_Mutation_p.P276S|TBX22_ENST00000373296.3_Missense_Mutation_p.P276S	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	276					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P276S(1)|p.P276A(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGAAAGAAATCCTTTTGCTAA	0.318000													19	33					0	0	0.008871	0	0
SLC6A7	6534	broad.mit.edu	37	5	149578887	149578887	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:149578887C>T	ENST00000230671.2	+	5	1052	c.681C>T	c.(679-681)atC>atT	p.I227I	SLC6A7_ENST00000524041.1_Silent_p.I227I	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	227						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CCTGGGTCATCGTGTTCCTCT	0.642000													24	52					0	0	0.006320	0	0
GABRA3	2556	broad.mit.edu	37	X	151532974	151532974	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:151532974G>A	ENST00000370314.4	-	2	307	c.69C>T	c.(67-69)ctC>ctT	p.L23L	GABRA3_ENST00000535043.1_Silent_p.L23L|GABRA3_ENST00000370311.1_Silent_p.L23L	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	23					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGGTTCCAGGGAGAATATTAA	0.458000													66	136					0	0	0.014410	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40836075	40836075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:40836075G>A	ENST00000264638.4	+	3	408	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	64	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGGTCACCACGGATTGGGGAT	0.597000													34	65					0	0	0.003755	0	0
KMT2A	4297	broad.mit.edu	37	11	118375417	118375417	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:118375417T>A	ENST00000534358.1	+	27	8833	c.8810T>A	c.(8809-8811)tTg>tAg	p.L2937*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.L2896*|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.L2934*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CTGTCTGTCTTGACCACCCGG	0.488000													38	87					0	0	0.006999	0	0
IQGAP2	10788	broad.mit.edu	37	5	75886394	75886394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:75886394G>A	ENST00000274364.6	+	8	1099	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	268					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAAAAAAGAGGAAAATGCAAG	0.348000													14	32					0	0	0.001855	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966888	39966888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:39966888G>A	ENST00000336649.4	+	1	131	c.131G>A	c.(130-132)gGa>gAa	p.G44E	CACNA1I_ENST00000407673.1_Missense_Mutation_p.G44E|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G44E|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G44E|CACNA1I_ENST00000404898.1_Missense_Mutation_p.G44E|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G44E			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	44					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCTCTGGATGGAGCTGATCCT	0.667000													30	73					0	0	0.012213	0	0
OPRM1	4988	broad.mit.edu	37	6	154412374	154412374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:154412374C>T	ENST00000414028.2	+	3	981	c.931C>T	c.(931-933)Cca>Tca	p.P311S	OPRM1_ENST00000330432.7_Missense_Mutation_p.P311S|OPRM1_ENST00000518759.1_Missense_Mutation_p.P230S|OPRM1_ENST00000435918.2_Missense_Mutation_p.P311S|OPRM1_ENST00000522555.1_Missense_Mutation_p.P211S|OPRM1_ENST00000337049.4_Missense_Mutation_p.P311S|OPRM1_ENST00000419506.2_Missense_Mutation_p.P311S|OPRM1_ENST00000360422.4_Missense_Mutation_p.P311S|OPRM1_ENST00000520708.1_Missense_Mutation_p.P211S|OPRM1_ENST00000428397.2_Missense_Mutation_p.P311S|OPRM1_ENST00000229768.5_Missense_Mutation_p.P311S|OPRM1_ENST00000434900.2_Missense_Mutation_p.P404S|OPRM1_ENST00000524163.1_Missense_Mutation_p.P311S|OPRM1_ENST00000522236.1_Missense_Mutation_p.P211S|OPRM1_ENST00000452687.2_Missense_Mutation_p.P311S	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	311					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	GGTTACAATCCCAGAAACTAC	0.468000													43	29					0	0	0.006999	0	0
ARHGAP6	395	broad.mit.edu	37	X	11272674	11272674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:11272674G>A	ENST00000337414.4	-	2	1614	c.742C>T	c.(742-744)Ccc>Tcc	p.P248S	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.P45S|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.P248S|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.P73S|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.P280S|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.P45S|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.P57S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	248					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTACCTTTGGGAATGGTGATC	0.527000													32	65					0	0	0.003271	0	0
KBTBD12	166348	broad.mit.edu	37	3	127703092	127703092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:127703092G>A	ENST00000405109.1	+	6	2310	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Missense_Mutation_p.D615N|KBTBD12_ENST00000407609.3_Missense_Mutation_p.D222N|KBTBD12_ENST00000343941.4_Missense_Mutation_p.D190N			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	615										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CCCGCCTTCAGATTTGGTGGA	0.542000													32	44					0	0	0.010818	0	0
OR6C70	390327	broad.mit.edu	37	12	55863729	55863729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:55863729G>A	ENST00000327335.4	-	1	193	c.194C>T	c.(193-195)tCt>tTt	p.S65F	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TTCCAGAAAAGAGAAATTACG	0.408000													20	44					0	0	0.008871	0	0
HTR4	3360	broad.mit.edu	37	5	147928256	147928256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:147928256G>A	ENST00000360693.3	-	4	466	c.328C>T	c.(328-330)Cac>Tac	p.H110Y	HTR4_ENST00000377888.3_Missense_Mutation_p.H110Y|HTR4_ENST00000517929.1_Missense_Mutation_p.H110Y|HTR4_ENST00000521735.1_Missense_Mutation_p.H110Y|HTR4_ENST00000362016.2_Missense_Mutation_p.H110Y|HTR4_ENST00000520514.1_Missense_Mutation_p.H110Y|HTR4_ENST00000354217.2_Missense_Mutation_p.H110Y|HTR4_ENST00000521530.1_Missense_Mutation_p.H110Y|HTR4_ENST00000314512.6_Missense_Mutation_p.H110Y	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	110					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CAGCACAGGTGAAAAATCGAT	0.493000													13	11					0	0	0.001855	0	0
DPP6	1804	broad.mit.edu	37	7	154684056	154684056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:154684056G>A	ENST00000404039.1	+	26	2859	c.2272G>A	c.(2272-2274)Gaa>Aaa	p.E758K	DPP6_ENST00000427557.1_Missense_Mutation_p.E715K|DPP6_ENST00000332007.3_Missense_Mutation_p.E760K|DPP6_ENST00000377770.3_Missense_Mutation_p.E822K	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	822					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTACCCGGACGAAAGCCATTA	0.512000													38	40					0	0	0.010771	0	0
TSHR	7253	broad.mit.edu	37	14	81606081	81606081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:81606081G>A	ENST00000541158.2	+	10	1073	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.E251K			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	251					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCACCTGAAGGAACTGATAGC	0.512000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						26	52					0	0	0.005443	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857369	9857369	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:9857369G>A	ENST00000396573.2	-	14	4341	c.4032C>T	c.(4030-4032)ttC>ttT	p.F1344F	GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Silent_p.F1344F|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000396575.2_Silent_p.F1344F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1344					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GACCTTGGGGGAAAAGGGAGC	0.537000													20	56					0	0	0.007413	0	0
NME7	29922	broad.mit.edu	37	1	169293677	169293677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:169293677C>T	ENST00000367811.3	-	2	321	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	22	DM10.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					CTCATAACGTCGAAGAAGTGA	0.378000													14	39					0	0	0.004007	0	0
GIPC3	126326	broad.mit.edu	37	19	3590080	3590080	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:3590080G>A	ENST00000322315.5	+	6	876	c.831G>A	c.(829-831)caG>caA	p.Q277Q		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	277										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGCGCCCAGGAGTTTGCAC	0.652000													6	8					0	0	0.003080	0	0
COL4A3	1285	broad.mit.edu	37	2	228142233	228142233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:228142233C>T	ENST00000396578.3	+	28	2251	c.2089C>T	c.(2089-2091)Cca>Tca	p.P697S	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	697	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ACCAGGAATTCCAGGAATTGG	0.408000													9	6					0	0	0.008291	0	0
EPC2	26122	broad.mit.edu	37	2	149528724	149528724	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:149528724T>G	ENST00000258484.6	+	10	1522	c.1488T>G	c.(1486-1488)aaT>aaG	p.N496K		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	496					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TTTCTTCTAATTTCTCTCGGA	0.383000													17	17					0	0	0.004007	0	0
TTC13	79573	broad.mit.edu	37	1	231056274	231056274	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:231056274G>A	ENST00000366661.4	-	17	1972	c.1965C>T	c.(1963-1965)gaC>gaT	p.D655D	TTC13_ENST00000414259.1_Silent_p.D602D|TTC13_ENST00000366662.4_Silent_p.D602D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	655							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCGGAAGAAGGTCTTCTACTT	0.388000													28	63					0	0	0.007291	0	0
OR10A7	121364	broad.mit.edu	37	12	55614872	55614872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:55614872G>A	ENST00000326258.1	+	1	64	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						AAACAACCCCGAGATGCAAGT	0.368000													77	155					0	0	0.014410	0	0
B4GALNT4	338707	broad.mit.edu	37	11	372902	372902	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:372902C>T	ENST00000329962.6	+	4	399	c.399C>T	c.(397-399)gcC>gcT	p.A133A		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	133						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGGGGCGCCGTGGGCCACC	0.706000													9	28					0	0	0.006214	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843053	22843053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:22843053G>A	ENST00000360412.2	-	4	1446	c.671C>T	c.(670-672)aCc>aTc	p.T224I	ZNF280B_ENST00000406426.1_Missense_Mutation_p.T224I	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GCTTAATGAGGTATGAACATT	0.368000													46	81					0	0	0.014410	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149212615	149212615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:149212615C>T	ENST00000309241.5	+	5	1011	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P288S|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P263S|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P327S	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	327					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGATCCCGGCCCTGGTCCCG	0.627000													21	61					0	0	0.014323	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33060667	33060667	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:33060667G>A	ENST00000373510.4	+	4	1065	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R279Q	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						GATCTGCCTCGGATGCGATTC	0.453000													18	28					0	0	0.006122	0	0
BHMT2	23743	broad.mit.edu	37	5	78384391	78384391	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:78384391C>T	ENST00000255192.3	+	8	1152	c.1086C>T	c.(1084-1086)gaC>gaT	p.D362D	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Silent_p.D298D	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	362					methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	CAAAGCCAGACTTCTAAGGAG	0.463000													18	38					0	0	0.006122	0	0
NCF2	4688	broad.mit.edu	37	1	183536087	183536087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:183536087C>T	ENST00000413720.1	-	8	1031	c.757G>A	c.(757-759)Gag>Aag	p.E253K	NCF2_ENST00000367536.1_Missense_Mutation_p.E298K|NCF2_ENST00000367535.3_Missense_Mutation_p.E298K|NCF2_ENST00000418089.1_Missense_Mutation_p.E217K	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	298	SH3 1.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						ATCCGCAGCTCAACTGGTTCA	0.527000													31	29					0	0	0.003755	0	0
DNAH9	1770	broad.mit.edu	37	17	11835379	11835379	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:11835379T>A	ENST00000262442.3	+	64	12222	c.12154T>A	c.(12154-12156)Ttt>Att	p.F4052I	DNAH9_ENST00000454412.2_Missense_Mutation_p.F3976I|DNAH9_ENST00000396001.2_Missense_Mutation_p.F364I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4052	AAA 6 (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)		GAGCATCCTCTTTGCTCTTTG	0.483000													105	215					0	0	0.014410	0	0
OR2W1	26692	broad.mit.edu	37	6	29012249	29012249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:29012249C>T	ENST00000377175.1	-	1	768	c.704G>A	c.(703-705)cGa>cAa	p.R235Q		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CATTGCTTTTCGCTGGCTTGC	0.408000													120	85					0	0	0.014410	0	0
CDH23	64072	broad.mit.edu	37	10	73439179	73439179	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:73439179C>T	ENST00000224721.6	+	16	1808	c.1803C>T	c.(1801-1803)atC>atT	p.I601I	CDH23_ENST00000299366.7_Silent_p.I641I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	596	Cadherin 6.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACAACCAGATCACCTACAGCA	0.592000													6	6					0	0	0.001168	0	0
TTC13	79573	broad.mit.edu	37	1	231056273	231056273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:231056273G>A	ENST00000366661.4	-	17	1973	c.1966C>T	c.(1966-1968)Ctt>Ttt	p.L656F	TTC13_ENST00000414259.1_Missense_Mutation_p.L603F|TTC13_ENST00000366662.4_Missense_Mutation_p.L603F	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	656							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATCGGAAGAAGGTCTTCTACT	0.388000													28	62					0	0	0.008361	0	0
PELI2	57161	broad.mit.edu	37	14	56757087	56757087	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:56757087C>T	ENST00000267460.4	+	5	895	c.609C>T	c.(607-609)tcC>tcT	p.S203S		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	203					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CCGAGGAGTCCCAGCCCGGGG	0.587000													26	74					0	0	0.003954	0	0
TRIM24	8805	broad.mit.edu	37	7	138255744	138255744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:138255744C>T	ENST00000343526.4	+	11	2089	c.1874C>T	c.(1873-1875)cCg>cTg	p.P625L	TRIM24_ENST00000415680.2_Missense_Mutation_p.P591L			O15164	TIF1A_HUMAN	tripartite motif containing 24	625					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	p.P591L(1)|p.P625L(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CCCTCTCTTCCGGATGTAAGT	0.473000													120	115					0	0	0.014410	0	0
ZNF208	7757	broad.mit.edu	37	19	22154181	22154181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:22154181G>A	ENST00000397126.4	-	4	3803	c.3655C>T	c.(3655-3657)Cat>Tat	p.H1219Y	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTATGAATTTTCTTG	0.378000													27	24					0	0	0.005443	0	0
SHROOM2	357	broad.mit.edu	37	X	9900605	9900605	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:9900605C>T	ENST00000380913.3	+	6	3372	c.3282C>T	c.(3280-3282)ttC>ttT	p.F1094F	SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1094					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCAGGCCCTTCCCAACGCCAT	0.701000													22	25					0	0	0.012319	0	0
POLE	5426	broad.mit.edu	37	12	133209066	133209066	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:133209066G>A	ENST00000320574.5	-	45	6208	c.6165C>T	c.(6163-6165)gtC>gtT	p.V2055V	POLE_ENST00000535270.1_Silent_p.V2028V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2055					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCTCATTTGCGACATAATCCT	0.522000								DNA polymerases (catalytic subunits)					35	84					0	0	0.004289	0	0
PDGFC	56034	broad.mit.edu	37	4	157771485	157771485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:157771485G>A	ENST00000502773.1	-	2	692	c.202C>T	c.(202-204)Cca>Tca	p.P68S	PDGFC_ENST00000541126.1_Intron|PDGFC_ENST00000422544.2_Missense_Mutation_p.P68S	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	68	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GTATTTCTTGGATAAGTATGA	0.378000													30	42					0	0	0.009535	0	0
OR10G8	219869	broad.mit.edu	37	11	123900949	123900949	+	Missense_Mutation	SNP	C	C	T	rs150048996		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:123900949C>T	ENST00000431524.1	+	1	653	c.620C>T	c.(619-621)tCg>tTg	p.S207L		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATAGTGGCCTCGGGCTGCTTT	0.532000													52	83					0	0	0.014410	0	0
DNTT	1791	broad.mit.edu	37	10	98088481	98088481	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:98088481G>A	ENST00000419175.1	+	8	1177		c.e8-1		DNTT_ENST00000371174.2_Splice_Site	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase						DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TTGAAAATTAGGGGTAAGAAG	0.333000													31	13					0	0	0.013726	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73944161	73944161	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:73944161C>T	ENST00000476977.1	+	9	2879	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	GTF2IRD1_ENST00000265755.3_Silent_p.I396I|GTF2IRD1_ENST00000455841.2_Silent_p.I428I|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Silent_p.I396I			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	396						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CGGACAAGATCCCCTTCAAGC	0.617000													31	31					0	0	0.012213	0	0
DSCAM	1826	broad.mit.edu	37	21	42064773	42064773	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:42064773G>A	ENST00000400454.1	-	3	948	c.471C>T	c.(469-471)gtC>gtT	p.V157V		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	157	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCCATGAGACGACAGTGATGT	0.517000													28	58					0	0	0.006320	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10863030	10863030	+	RNA	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:10863030A>G	ENST00000559480.1	+	0	326																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						AGATCTGAGGACACGGCCATG	0.507000													77	563					0	0	0.014410	0	0
B4GALT2	8704	broad.mit.edu	37	1	44450559	44450559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:44450559G>A	ENST00000356836.6	+	4	1362	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	B4GALT2_ENST00000434555.2_Missense_Mutation_p.R125Q|B4GALT2_ENST00000309519.7_Missense_Mutation_p.R220Q|B4GALT2_ENST00000372324.1_Missense_Mutation_p.R191Q|B4GALT2_ENST00000481924.1_3'UTR	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	191					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	ACCTTCAACCGGGCCAAGCTG	0.592000													19	40					0	0	0.012319	0	0
DOCK3	1795	broad.mit.edu	37	3	51398000	51398000	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:51398000G>A	ENST00000266037.9	+	47	4966	c.4943G>A	c.(4942-4944)gGa>gAa	p.G1648E		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1648						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ACCCCACGGGGAAATGTTCTG	0.527000													10	16					0	0	0.010729	0	0
MCTP1	79772	broad.mit.edu	37	5	94230396	94230396	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:94230396G>A	ENST00000515393.1	-	11	1796	c.1797C>T	c.(1795-1797)tcC>tcT	p.S599S	MCTP1_ENST00000505208.1_Silent_p.S378S|MCTP1_ENST00000429576.2_Silent_p.S332S|MCTP1_ENST00000312216.8_Silent_p.S378S|MCTP1_ENST00000505078.1_Silent_p.S115S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	599					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGTCCTCCAGGGAGTTGACAG	0.507000													13	34					0	0	0.002450	0	0
NCR1	9437	broad.mit.edu	37	19	55423543	55423543	+	Silent	SNP	T	T	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:55423543T>G	ENST00000594765.1	+	6	712	c.687T>G	c.(685-687)acT>acG	p.T229T	NCR1_ENST00000350790.5_Silent_p.T135T|NCR1_ENST00000447255.1_Silent_p.T229T|NCR1_ENST00000357397.5_Silent_p.T123T|NCR1_ENST00000291890.4_Silent_p.T230T|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000598576.1_Silent_p.T217T			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	230					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CAGCAGACACTTGGGGCACCT	0.537000													32	74					0	0	0.006230	0	0
GPR110	266977	broad.mit.edu	37	6	46991839	46991839	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:46991839G>A	ENST00000371253.2	-	5	607	c.392C>T	c.(391-393)cCa>cTa	p.P131L	GPR110_ENST00000371243.2_Missense_Mutation_p.P131L|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	131					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TTCACAGCTTGGGAGTGCTCC	0.517000													38	31					0	0	0.006230	0	0
GHRH	2691	broad.mit.edu	37	20	35884814	35884814	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:35884814G>A	ENST00000373614.2	-	3	282	c.171C>T	c.(169-171)atC>atT	p.I57I	GHRH_ENST00000373611.2_Silent_p.I57I|GHRH_ENST00000237527.3_Silent_p.I57I			P01286	SLIB_HUMAN	growth hormone releasing hormone	57					activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding			lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				GCCTGCTCATGATGTCCTGGA	0.597000													17	25					0	0	0.008871	0	0
ATAT1	79969	broad.mit.edu	37	6	30610592	30610592	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:30610592C>T	ENST00000376483.4	+	10	782	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	ATAT1_ENST00000319027.5_Missense_Mutation_p.R235C|ATAT1_ENST00000468713.1_Intron|ATAT1_ENST00000376478.2_Missense_Mutation_p.R235C|ATAT1_ENST00000318999.7_Missense_Mutation_p.R235C|ATAT1_ENST00000376485.4_Missense_Mutation_p.R258C|ATAT1_ENST00000329992.8_Missense_Mutation_p.R258C|ATAT1_ENST00000330083.5_Missense_Mutation_p.R246C			Q5SQI0	ATAT_HUMAN	alpha tubulin acetyltransferase 1	258							tubulin N-acetyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						CAGGGCCCCTCGCCGCGCCAC	0.607000													20	22					0	0	0.010504	0	0
DNAH17	8632	broad.mit.edu	37	17	76522783	76522783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:76522783C>T	ENST00000389840.5	-	24	3785	c.3661G>A	c.(3661-3663)Gag>Aag	p.E1221K	DNAH17_ENST00000585328.1_Missense_Mutation_p.E1218K					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AACGGGGCCTCGCGCCTGAAC	0.587000													14	22					0	0	0.003163	0	0
ITPA	3704	broad.mit.edu	37	20	3202495	3202495	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:3202495C>T	ENST00000380113.3	+	7	612	c.420C>T	c.(418-420)atC>atT	p.I140I	ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000455664.1_Silent_p.I123I|ITPA_ENST00000399838.3_Silent_p.I99I	NM_033453.3	NP_258412.1	Q9BY32	ITPA_HUMAN	inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	140					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						AGGGCCGGATCGTGGCACCCA	0.592000													15	23					0	0	0.007413	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912840	94912840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:94912840C>T	ENST00000334708.3	-	3	809	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	249					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CTGTGCATTTCCTTTTGGTGC	0.527000													47	78					0	0	0.014410	0	0
AKAP6	9472	broad.mit.edu	37	14	33292791	33292791	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:33292791G>A	ENST00000280979.4	+	13	5942	c.5772G>A	c.(5770-5772)ggG>ggA	p.G1924G	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1924					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTTCACATGGGAAAGAGATTT	0.378000													26	45					0	0	0.004656	0	0
PAPOLB	56903	broad.mit.edu	37	7	4899683	4899683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:4899683C>T	ENST00000404991.1	-	1	1942	c.1756G>A	c.(1756-1758)Ggg>Agg	p.G586R	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	586					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AATGCAACCCCTGAACTTTCA	0.463000													22	66					0	0	0.012319	0	0
IGHV1-3	28473	broad.mit.edu	37	14	106471665	106471665	+	RNA	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:106471665C>T	ENST00000390595.2	-	0	58																											AAAGAGGATCCTCCAGGTCCA	0.557000													21	30					0	0	0.003954	0	0
SMAD2	4087	broad.mit.edu	37	18	45371633	45371633	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:45371633T>A	ENST00000591214.1	-	9	1363	c.1268A>T	c.(1267-1269)cAt>cTt	p.H423L	SMAD2_ENST00000356825.4_Intron|SMAD2_ENST00000402690.2_Intron|SMAD2_ENST00000262160.6_Intron|SMAD2_ENST00000586040.1_Intron			Q15796	SMAD2_HUMAN	SMAD family member 2	0	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TAGATACAAATGAACTCCAGA	0.348000													27	30					0	0	0.003954	0	0
ZNF71	58491	broad.mit.edu	37	19	57133296	57133296	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:57133296A>T	ENST00000328070.6	+	3	875	c.641A>T	c.(640-642)tAt>tTt	p.Y214F		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	214						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GAGAAGCCGTATGTGTGCGAC	0.657000													16	37					0	0	0.004007	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103052562	103052562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:103052562G>A	ENST00000375735.2	+	40	6568	c.6424G>A	c.(6424-6426)Gaa>Aaa	p.E2142K	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.E2142K	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2142	AAA 2 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAATAATCTTGAAAATTGGAT	0.303000													5	6					0	0	0.001168	0	0
ICA1	3382	broad.mit.edu	37	7	8268266	8268266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:8268266G>A	ENST00000402384.3	-	4	487	c.221C>T	c.(220-222)tCg>tTg	p.S74L	ICA1_ENST00000401396.1_Missense_Mutation_p.S62L|ICA1_ENST00000265577.7_Missense_Mutation_p.S73L|ICA1_ENST00000407906.1_Missense_Mutation_p.S74L|ICA1_ENST00000396675.3_Missense_Mutation_p.S74L|ICA1_ENST00000406470.2_Missense_Mutation_p.S74L|ICA1_ENST00000422063.2_Missense_Mutation_p.S74L			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	74	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		AATTGCTTTCGATAAGTCCAG	0.294000													10	33					0	0	0.002450	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73156631	73156631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:73156631G>A	ENST00000286657.4	-	20	2908	c.2872C>T	c.(2872-2874)Cgc>Tgc	p.R958C		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	958	TSP type-1 3.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGGGCCGGCGGCTCTCGGGA	0.567000													23	45					0	0	0.002780	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90122116	90122116	+	RNA	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:90122116C>T	ENST00000483379.1	+	0	515																											TTACTGTCTACAGCATAATAG	0.522000													47	82					0	0	0.014410	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319931	21319931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:21319931C>T	ENST00000583088.1	+	3	2172	c.1277C>T	c.(1276-1278)cCc>cTc	p.P426L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.P426L	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GAGCAGCGGCCCTACAGACGG	0.701000										Prostate(3;0.18)			4	29					0	0	0.001168	0	0
ARID2	196528	broad.mit.edu	37	12	46285666	46285666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:46285666C>T	ENST00000334344.6	+	17	5198	c.5026C>T	c.(5026-5028)Cag>Tag	p.Q1676*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q1286*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q1527*|ARID2_ENST00000457135.1_Nonsense_Mutation_p.Q284*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1676					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGAGCCTTTTCAGCGACAGCG	0.413000			"""N, S, F"""		hepatocellular carcinoma								53	114					0	0	0.014410	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72196961	72196961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:72196961C>T	ENST00000555818.1	+	18	5215	c.4867C>T	c.(4867-4869)Ccc>Tcc	p.P1623S	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P1602S|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.P1077S|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P1602S	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1623					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCCTTCTCTCCCCAAGTCGCT	0.542000													36	50					0	0	0.006230	0	0
DCDC1	341019	broad.mit.edu	37	11	30902704	30902704	+	Splice_Site	SNP	C	C	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:30902704C>A	ENST00000597505.1	-	35	5224		c.e35+1					P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATCATGCATACCTTTTGGGGT	0.398000													16	17					1.02788e-11	1.05543e-11	0.004990	1	0
DDR1	780	broad.mit.edu	37	6	30862331	30862331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:30862331C>T	ENST00000324771.8	+	13	1944	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S	DDR1_ENST00000418800.2_Missense_Mutation_p.P466S|DDR1_ENST00000508312.1_Missense_Mutation_p.P484S|DDR1_ENST00000452441.1_Missense_Mutation_p.P466S|DDR1_ENST00000376569.3_Missense_Mutation_p.P466S|DDR1_ENST00000376568.3_Missense_Mutation_p.P466S|DDR1_ENST00000376570.4_Missense_Mutation_p.P466S|DDR1_ENST00000513240.1_Missense_Mutation_p.P466S|DDR1_ENST00000454612.2_Missense_Mutation_p.P466S|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376567.2_Missense_Mutation_p.P466S|DDR1_ENST00000376575.3_Missense_Mutation_p.P466S			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	466					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCTCTCTGTCCCTGGGGACAC	0.632000													87	49					0	0	0.014410	0	0
ASAP2	8853	broad.mit.edu	37	2	9541480	9541480	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:9541480G>A	ENST00000281419.3	+	27	3241	c.2901G>A	c.(2899-2901)gaG>gaA	p.E967E	ASAP2_ENST00000315273.4_Silent_p.E922E	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	967	SH3.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CCTTCTCCGAGGGGGATGTGA	0.612000													25	40					0	0	0.003330	0	0
ARID1A	8289	broad.mit.edu	37	1	27106648	27106648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:27106648G>A	ENST00000324856.7	+	20	6630	c.6259G>A	c.(6259-6261)Gga>Aga	p.G2087R	ARID1A_ENST00000374152.2_Missense_Mutation_p.G1704R|ARID1A_ENST00000540690.1_Missense_Mutation_p.G415R|ARID1A_ENST00000457599.2_Missense_Mutation_p.G1870R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2087					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G2087R(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGTCCTGGACGGACTCCTACA	0.592000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								38	52					0	0	0.004878	0	0
SYCP2	10388	broad.mit.edu	37	20	58467232	58467232	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:58467232G>A	ENST00000357552.3	-	24	2402	c.2177C>T	c.(2176-2178)tCg>tTg	p.S726L	SYCP2_ENST00000371001.2_Missense_Mutation_p.S726L			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	726					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TAGGAGAACCGATTTAAAAGT	0.338000													39	38					0	0	0.004878	0	0
DAB1	1600	broad.mit.edu	37	1	57481073	57481073	+	Silent	SNP	G	G	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:57481073G>T	ENST00000371236.2	-	12	1190	c.927C>A	c.(925-927)tcC>tcA	p.S309S	DAB1_ENST00000420954.2_Silent_p.S307S|DAB1_ENST00000371234.4_Silent_p.S309S|DAB1_ENST00000414851.2_Silent_p.S291S|DAB1_ENST00000371231.1_Silent_p.S342S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Silent_p.S223S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	342					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GACCCCAGAAGGACGGGAGGA	0.607000													18	45					1.45105e-14	1.4931e-14	0.006122	1	0
PRDM5	11107	broad.mit.edu	37	4	121774692	121774692	+	Missense_Mutation	SNP	G	G	A	rs142855444		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:121774692G>A	ENST00000264808.3	-	3	421	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	PRDM5_ENST00000428209.2_Missense_Mutation_p.R61C|PRDM5_ENST00000515109.1_Missense_Mutation_p.R61C|PRDM5_ENST00000394435.2_Missense_Mutation_p.R61C	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	61	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTACTCCCACGAACCTGAAAC	0.423000													100	173					0	0	0.014410	0	0
C7orf34	135927	broad.mit.edu	37	7	142636823	142636823	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:142636823G>A	ENST00000409607.3	+	1	221	c.180G>A	c.(178-180)ggG>ggA	p.G60G		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	35						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CCAAAGATGGGAGCCAGACAG	0.562000													17	54					0	0	0.004990	0	0
GPR114	221188	broad.mit.edu	37	16	57597803	57597803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:57597803C>T	ENST00000340339.4	+	5	864	c.341C>T	c.(340-342)cCc>cTc	p.P114L	GPR114_ENST00000349457.3_Missense_Mutation_p.P114L|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	114					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						ATGCAGTTCCCCGCCGAGCTG	0.617000													28	21					0	0	0.005443	0	0
NKX3-1	4824	broad.mit.edu	37	8	23540212	23540212	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:23540212C>T	ENST00000380871.4	-	1	228	c.191G>A	c.(190-192)gGa>gAa	p.G64E	NKX3-1_ENST00000523261.1_Intron	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	64					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		GCTGCGTCCTCCCTCTGGCTC	0.746000													11	12					0	0	0.001855	0	0
GABBR1	2550	broad.mit.edu	37	6	29574771	29574771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:29574771G>A	ENST00000377034.4	-	18	2455	c.2120C>T	c.(2119-2121)cCc>cTc	p.P707L	GABBR1_ENST00000377016.4_Missense_Mutation_p.P645L|GABBR1_ENST00000377012.4_Missense_Mutation_p.P590L|GABBR1_ENST00000355973.3_Missense_Mutation_p.P590L|GABBR1_ENST00000376977.3_3'UTR	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	707					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CAGCTTCCAGGGTTCCAGAGT	0.587000													31	74					0	0	0.012213	0	0
LNX1	84708	broad.mit.edu	37	4	54347931	54347931	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:54347931C>G	ENST00000306888.2	-	6	1404	c.1153G>C	c.(1153-1155)Ggc>Cgc	p.G385R	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Missense_Mutation_p.G481R	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	481	PDZ 2.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GACCAGCTGCCATTGCTGTTC	0.627000													12	23					0	0	0.013537	0	0
NCOA3	8202	broad.mit.edu	37	20	46279928	46279928	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:46279928A>C	ENST00000372004.3	+	20	4058	c.3842A>C	c.(3841-3843)aAt>aCt	p.N1281T	NCOA3_ENST00000371997.3_Missense_Mutation_p.N1276T|NCOA3_ENST00000371998.3_Missense_Mutation_p.N1285T|NCOA3_ENST00000341724.6_Missense_Mutation_p.N1211T	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1285	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCACCTCCTAATGTGACTGCT	0.537000													27	45					0	0	0.003954	0	0
CCDC130	81576	broad.mit.edu	37	19	13873690	13873690	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:13873690C>T	ENST00000586600.1	+	11	1502	c.999C>T	c.(997-999)ccC>ccT	p.P333P	CCDC130_ENST00000221554.8_Silent_p.P333P|CCDC130_ENST00000587019.1_3'UTR			P13994	CC130_HUMAN	coiled-coil domain containing 130	333					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CCATGTCCCCCGGAGACTGTC	0.697000													7	16					0	0	0.004482	0	0
MIPEP	4285	broad.mit.edu	37	13	24443560	24443560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:24443560G>A	ENST00000382172.3	-	7	912	c.814C>T	c.(814-816)Ctt>Ttt	p.L272F		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	272					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TTGGGATAAAGAAAAATTTTA	0.398000													43	35					0	0	0.007835	0	0
AGBL1	123624	broad.mit.edu	37	15	86687045	86687045	+	Silent	SNP	C	C	T	rs138356654	by1000genomes	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:86687045C>T	ENST00000441037.2	+	2	188	c.93C>T	c.(91-93)ctC>ctT	p.L31L	AGBL1_ENST00000421325.2_Silent_p.L31L	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	31					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCCTGCCTCTCTTCCGGCTGC	0.507000													34	50					0	0	0.013726	0	0
CDCA2	157313	broad.mit.edu	37	8	25323825	25323825	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:25323825C>T	ENST00000330560.3	+	5	999	c.522C>T	c.(520-522)tcC>tcT	p.S174S	CDCA2_ENST00000380665.3_Silent_p.S159S	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	174					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GAAAAGAGTCCGAGATGACAG	0.383000													26	49					0	0	0.006320	0	0
MYO1C	4641	broad.mit.edu	37	17	1374529	1374529	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:1374529T>A	ENST00000359786.5	-	20	2447	c.2123A>T	c.(2122-2124)tAc>tTc	p.Y708F	MYO1C_ENST00000361007.2_Missense_Mutation_p.Y673F|MYO1C_ENST00000575158.1_Missense_Mutation_p.Y673F|MYO1C_ENST00000438665.2_Missense_Mutation_p.Y689F|MYO1C_ENST00000545534.2_Missense_Mutation_p.Y684F	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	708	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCATCTTGTACTCTTCTGG	0.632000													15	36					0	0	0.003163	0	0
PKMYT1	9088	broad.mit.edu	37	16	3025725	3025725	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:3025725G>A	ENST00000431515.2	-	4	852	c.467C>T	c.(466-468)gCc>gTc	p.A156V	PKMYT1_ENST00000262300.8_Missense_Mutation_p.A156V|PKMYT1_ENST00000440027.2_Missense_Mutation_p.A156V|PKMYT1_ENST00000574730.1_Missense_Mutation_p.A87V|PKMYT1_ENST00000574385.1_Missense_Mutation_p.A147V|PKMYT1_ENST00000573944.1_Missense_Mutation_p.A147V			Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	156	Protein kinase.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GCCCACCTCGGCCAACTTGCG	0.682000													19	26					0	0	0.007413	0	0
PCK1	5105	broad.mit.edu	37	20	56140566	56140566	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:56140566C>T	ENST00000319441.4	+	10	1739	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F	PCK1_ENST00000543666.1_Silent_p.F208F	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	525					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AAGGCAAATTCCTCTGGCCAG	0.557000													26	54					0	0	0.005443	0	0
C20orf26	26074	broad.mit.edu	37	20	20071504	20071504	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:20071504G>A	ENST00000245957.5	+	7	659	c.583G>A	c.(583-585)Gat>Aat	p.D195N	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.D195N|C20orf26_ENST00000377306.1_Missense_Mutation_p.D195N	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	195								p.D195N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGACCATGACGATCTCATGCC	0.438000													58	132					0	0	0.014410	0	0
P4HA2	8974	broad.mit.edu	37	5	131543476	131543476	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:131543476G>A	ENST00000401867.1	-	9	1573	c.1005C>T	c.(1003-1005)agC>agT	p.S335S	P4HA2_ENST00000379100.2_Silent_p.S335S|P4HA2_ENST00000379104.2_Silent_p.S335S|P4HA2_ENST00000360568.3_Silent_p.S335S|P4HA2_ENST00000166534.4_Silent_p.S335S|P4HA2_ENST00000379086.1_Silent_p.S335S			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	335						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CGATGTGCGGGCTGTCCCACT	0.532000													56	128					0	0	0.014410	0	0
KDR	3791	broad.mit.edu	37	4	55948709	55948709	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:55948709G>A	ENST00000263923.4	-	28	4051	c.3756C>T	c.(3754-3756)atC>atT	p.I1252I	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1252					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTACATCTGGGATTACTTTTA	0.358000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			31	63					0	0	0.012213	0	0
HRNR	388697	broad.mit.edu	37	1	152187671	152187671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:152187671C>T	ENST00000368801.2	-	3	6509	c.6434G>A	c.(6433-6435)aGg>aAg	p.R2145K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2145					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGTTCACCCCTAGATGACTG	0.582000													54	2353					0	0	0.004656	0	0
NAT10	55226	broad.mit.edu	37	11	34152954	34152954	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:34152954C>T	ENST00000257829.3	+	14	1602	c.1396C>T	c.(1396-1398)Cag>Tag	p.Q466*	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Nonsense_Mutation_p.Q394*	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	466						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GGTTTCCCTCCAGGAGTCAAT	0.473000													38	43					0	0	0.006230	0	0
OR52A5	390054	broad.mit.edu	37	11	5153632	5153632	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:5153632G>A	ENST00000307388.1	-	1	240	c.241C>T	c.(241-243)Ccc>Tcc	p.P81S		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P81S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACATTTTGGGAAGAATGCAG	0.378000													22	39					0	0	0.014323	0	0
CCDC147	159686	broad.mit.edu	37	10	106125629	106125629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:106125629G>A	ENST00000369704.3	+	5	789	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	219										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CCGGAAGAAGGAAAAACTAGA	0.493000													17	13					0	0	0.006122	0	0
FCHSD1	89848	broad.mit.edu	37	5	141023974	141023974	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:141023974G>A	ENST00000435817.2	-	17	1724	c.1674C>T	c.(1672-1674)acC>acT	p.T558T	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522126.1_3'UTR|FCHSD1_ENST00000522783.1_Silent_p.T484T	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	558	SH3 2.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTCTGTCCGGTGTAGCTGT	0.627000													8	17					0	0	0.004482	0	0
PLA2G16	11145	broad.mit.edu	37	11	63357753	63357753	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:63357753G>A	ENST00000323646.5	-	3	560	c.206C>T	c.(205-207)gCc>gTc	p.A69V	PLA2G16_ENST00000415826.1_Missense_Mutation_p.A69V|PLA2G16_ENST00000394613.3_5'UTR	NM_007069.3	NP_009000.2	P53816	PAG16_HUMAN	phospholipase A2, group XVI	69					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5						GTCACTCCCGGCCACATCATA	0.572000													23	39					0	0	0.003330	0	0
CD177	57126	broad.mit.edu	37	19	43864436	43864436	+	RNA	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:43864436G>A	ENST00000378009.4	+	0	800				CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CCTGTCATCGGGGGACCACCA	0.557000													7	18					0	0	0.001984	0	0
ZNF182	7569	broad.mit.edu	37	X	47836430	47836430	+	Silent	SNP	T	T	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:47836430T>G	ENST00000396965.1	-	7	1406	c.1056A>C	c.(1054-1056)ggA>ggC	p.G352G	ZNF182_ENST00000305127.6_Silent_p.G352G|ZNF182_ENST00000376943.3_Silent_p.G333G	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TGAAAGATTCTCCACATTTAG	0.368000													42	105					0	0	0.011902	0	0
APOB	338	broad.mit.edu	37	2	21250765	21250765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:21250765G>A	ENST00000233242.1	-	14	2129	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	APOB_ENST00000399256.4_Missense_Mutation_p.P668S	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	668	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTTCTTTAGGAAGGTAGTTA	0.418000													59	101					0	0	0.014410	0	0
ZNF536	9745	broad.mit.edu	37	19	30935918	30935918	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:30935918G>A	ENST00000355537.3	+	2	1596	c.1449G>A	c.(1447-1449)ggG>ggA	p.G483G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCCCGGAGGGGGACAAGCACT	0.657000													21	47					0	0	0.010504	0	0
GAD2	2572	broad.mit.edu	37	10	26575418	26575418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:26575418G>A	ENST00000376261.3	+	13	1884	c.1381G>A	c.(1381-1383)Gca>Aca	p.A461T	GAD2_ENST00000259271.3_Missense_Mutation_p.A461T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	461					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GATGTGGAGGGCAAAGGTGAG	0.408000													16	33					0	0	0.007413	0	0
MYH8	4626	broad.mit.edu	37	17	10304406	10304406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:10304406C>T	ENST00000403437.2	-	25	3305	c.3211G>A	c.(3211-3213)Gat>Aat	p.D1071N	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1071					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTTCCATATCCATTGTGGAT	0.388000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				38	45					0	0	0.011902	0	0
CCDC130	81576	broad.mit.edu	37	19	13873689	13873689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:13873689C>T	ENST00000586600.1	+	11	1501	c.998C>T	c.(997-999)cCc>cTc	p.P333L	CCDC130_ENST00000221554.8_Missense_Mutation_p.P333L|CCDC130_ENST00000587019.1_3'UTR			P13994	CC130_HUMAN	coiled-coil domain containing 130	333					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CCCATGTCCCCCGGAGACTGT	0.697000													7	16					0	0	0.004482	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918881	21918881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:21918881G>A	ENST00000240662.2	-	3	1396	c.1051C>T	c.(1051-1053)Cca>Tca	p.P351S	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	351						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CTGCACCGTGGAGCAGCTACT	0.478000													38	81					0	0	0.004289	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555050	44555050	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:44555050C>T	ENST00000330682.2	-	1	1399	c.1164G>A	c.(1162-1164)gaG>gaA	p.E388E	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	388	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						ATTCATCTGTCTCTCGAGCGA	0.567000													28	556					0	0	0.004878	0	0
GUCY2F	2986	broad.mit.edu	37	X	108718992	108718992	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:108718992C>T	ENST00000218006.2	-	2	465	c.174G>A	c.(172-174)gtG>gtA	p.V58V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	58					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCCAAGGGCCCACCACCCCTA	0.557000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	57					0	0	0.006230	0	0
SLC2A2	6514	broad.mit.edu	37	3	170725020	170725020	+	Missense_Mutation	SNP	C	C	T	rs144822218		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:170725020C>T	ENST00000314251.3	-	5	608	c.529G>A	c.(529-531)Ggt>Agt	p.G177S	SLC2A2_ENST00000382808.4_Missense_Mutation_p.G58S	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	177					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GCAATTTCACCGATATACATA	0.428000													6	31					0	0	0.001168	0	0
C7	730	broad.mit.edu	37	5	40955635	40955635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:40955635C>T	ENST00000313164.9	+	10	1599	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	414	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GACTAATCTTCCTCAAGTCAT	0.413000													31	80					0	0	0.009535	0	0
DSPP	1834	broad.mit.edu	37	4	88533473	88533473	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:88533473G>A	ENST00000399271.1	+	4	255		c.e4-1		DSPP_ENST00000282478.7_Splice_Site|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein						biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TTCTTTTTCAGGATGAGTTAA	0.383000													11	20					0	0	0.013537	0	0
ILF3	3609	broad.mit.edu	37	19	10799882	10799882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:10799882C>T	ENST00000449870.1	+	20	2908	c.2591C>T	c.(2590-2592)tCc>tTc	p.S864F	ILF3_ENST00000590261.1_Missense_Mutation_p.S860F|ILF3_ENST00000318511.3_Missense_Mutation_p.S860F|ILF3_ENST00000588657.1_Missense_Mutation_p.S864F|ILF3_ENST00000586544.1_3'UTR	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	860	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AACTACAACTCCCCGGGGTCC	0.607000													77	158					0	0	0.014410	0	0
MYL3	4634	broad.mit.edu	37	3	46902187	46902187	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:46902187G>A	ENST00000395869.1	-	3	337	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	MYL3_ENST00000292327.4_Silent_p.L96L			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	96					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		GGCTTCCCCAGGACACGGAGC	0.632000													17	47					0	0	0.004990	0	0
ATG2A	23130	broad.mit.edu	37	11	64675085	64675085	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:64675085G>A	ENST00000421419.2	-	18	2673	c.2559C>T	c.(2557-2559)ccC>ccT	p.P853P	ATG2A_ENST00000377264.3_Silent_p.P853P			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	853							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CGGCGGGGTCGGGGGTGGGAA	0.632000													11	5					0	0	0.008291	0	0
KLRC1	3821	broad.mit.edu	37	12	10601904	10601904	+	Missense_Mutation	SNP	C	C	T	rs139780190		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:10601904C>T	ENST00000544822.1	-	6	808	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	KLRC1_ENST00000359151.3_Missense_Mutation_p.E141K|KLRC1_ENST00000347831.5_Missense_Mutation_p.E123K|KLRC1_ENST00000536188.1_Missense_Mutation_p.E141K|KLRC1_ENST00000408006.3_Missense_Mutation_p.E123K	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	141	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						AAACTCTCTTCCCAAGTTCTT	0.363000													99	167					0	0	0.014410	0	0
DIXDC1	85458	broad.mit.edu	37	11	111863713	111863713	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:111863713C>T	ENST00000440460.2	+	13	1551	c.1254C>T	c.(1252-1254)ctC>ctT	p.L418L	DIXDC1_ENST00000315253.5_Silent_p.L207L|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	419					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GGAACCGGCTCTTGGGAGAAT	0.423000													8	10					0	0	0.006214	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99227005	99227005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:99227005C>T	ENST00000394152.2	+	8	1324	c.997C>T	c.(997-999)Ccc>Tcc	p.P333S	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.P333S|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.P261S|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		CGGTGCCATCCCCCTGCCTGA	0.632000													23	50					0	0	0.014323	0	0
H1FNT	341567	broad.mit.edu	37	12	48723227	48723227	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:48723227G>A	ENST00000335017.1	+	1	465	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	51					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GACCATCGAGGGGCTGCTCAA	0.627000													8	19					0	0	0.004482	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101572057	101572057	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:101572057C>T	ENST00000326172.5	+	5	802	c.687C>T	c.(685-687)ccC>ccT	p.P229P	NFKBIZ_ENST00000326151.5_Silent_p.P229P|NFKBIZ_ENST00000394054.2_Silent_p.P129P	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						AATGCAGCCCCGTTTCCCTGA	0.527000													40	81					0	0	0.005524	0	0
TUBB6	84617	broad.mit.edu	37	18	12325306	12325306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:12325306C>T	ENST00000317702.5	+	4	752	c.518C>T	c.(517-519)cCc>cTc	p.P173L	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	173					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		ATGCCCTCGCCCAAGGTGTCG	0.622000													52	94					0	0	0.014410	0	0
PHIP	55023	broad.mit.edu	37	6	79671440	79671440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:79671440G>A	ENST00000275034.4	-	31	3790	c.3623C>T	c.(3622-3624)aCa>aTa	p.T1208I	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1208	Bromo 1.				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			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)		TTGTTTAATTGTACTTAGATC	0.403000													13	14					0	0	0.001855	0	0
SLC7A3	84889	broad.mit.edu	37	X	70147780	70147780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:70147780G>A	ENST00000374299.3	-	6	1055	c.911C>T	c.(910-912)tCt>tTt	p.S304F	SLC7A3_ENST00000298085.4_Missense_Mutation_p.S304F			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	304					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGTGAGTGCAGAAGAGACAGC	0.522000													13	32					0	0	0.001855	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086598	39086598	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:39086598G>A	ENST00000400482.3	-	3	1451	c.862C>T	c.(862-864)Cct>Tct	p.P288S	KCNJ6_ENST00000288309.6_Missense_Mutation_p.P288S	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	288					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCCCAGAAAGGACTCTGTTGG	0.478000													43	66					0	0	0.010771	0	0
TCP10L2	401285	broad.mit.edu	37	6	167595307	167595307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:167595307C>T	ENST00000366832.2	+	8	1096	c.965C>T	c.(964-966)cCa>cTa	p.P322L		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	322										endometrium(1)|kidney(2)|lung(3)	6						AAACGACATCCAAATGGCAAG	0.532000													15	14					0	0	0.003163	0	0
RGS7	6000	broad.mit.edu	37	1	240977012	240977012	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:240977012C>T	ENST00000366565.1	-	13	1243	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	RGS7_ENST00000348120.2_Missense_Mutation_p.E235K|RGS7_ENST00000331110.7_Missense_Mutation_p.E262K|RGS7_ENST00000446183.2_Missense_Mutation_p.E204K|RGS7_ENST00000366564.1_Missense_Mutation_p.E288K|RGS7_ENST00000366562.4_Missense_Mutation_p.E288K|RGS7_ENST00000366563.1_Missense_Mutation_p.E288K|RGS7_ENST00000401882.1_Missense_Mutation_p.E235K|RGS7_ENST00000407727.1_Missense_Mutation_p.E288K	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	288	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AAATACTGTTCCGTGTAACTT	0.428000													24	30					0	0	0.002780	0	0
PLCD4	84812	broad.mit.edu	37	2	219492943	219492943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:219492943G>A	ENST00000450993.2	+	7	1303	c.964G>A	c.(964-966)Gga>Aga	p.G322R	PLCD4_ENST00000432688.1_Missense_Mutation_p.G322R|PLCD4_ENST00000417849.1_Missense_Mutation_p.G322R	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	322	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CAGCGTCGAGGGATATATACG	0.512000													56	35					0	0	0.014410	0	0
DNAH7	56171	broad.mit.edu	37	2	196791160	196791160	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:196791160A>G	ENST00000312428.6	-	22	3702	c.3602T>C	c.(3601-3603)aTg>aCg	p.M1201T		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1201	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTTATCCCCATTGGAATAGC	0.323000													30	8					0	0	0.013726	0	0
CDX2	1045	broad.mit.edu	37	13	28539058	28539058	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:28539058G>A	ENST00000381020.7	-	2	2768	c.636C>T	c.(634-636)acC>acT	p.T212T	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	212					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		TCCTCCGGATGGTGATGTAGC	0.617000			T	ETV6	AML								14	34					0	0	0.002450	0	0
MPDZ	8777	broad.mit.edu	37	9	13125266	13125266	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:13125266G>A	ENST00000319217.7	-	35	5003	c.4756C>T	c.(4756-4758)Cag>Tag	p.Q1586*	MPDZ_ENST00000447879.1_Nonsense_Mutation_p.Q1553*|MPDZ_ENST00000538841.1_Nonsense_Mutation_p.Q445*|MPDZ_ENST00000381022.2_Nonsense_Mutation_p.Q1586*|MPDZ_ENST00000546205.1_Nonsense_Mutation_p.Q1600*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.Q1553*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.Q1586*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.Q1586*|MPDZ_ENST00000541093.1_5'UTR	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1586					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATCAGAGACTGGGAGCTGTTC	0.512000													24	31					0	0	0.004656	0	0
MCF2	4168	broad.mit.edu	37	X	138697087	138697087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:138697087G>A	ENST00000520602.1	-	13	1781	c.1496C>T	c.(1495-1497)cCt>cTt	p.P499L	MCF2_ENST00000414978.1_Missense_Mutation_p.P499L|MCF2_ENST00000370573.4_Missense_Mutation_p.P439L|MCF2_ENST00000370576.4_Missense_Mutation_p.P439L|MCF2_ENST00000536274.1_Missense_Mutation_p.P400L|MCF2_ENST00000370578.4_Missense_Mutation_p.P584L|MCF2_ENST00000338585.6_Missense_Mutation_p.P439L|MCF2_ENST00000519895.1_Missense_Mutation_p.P499L|MCF2_ENST00000483690.1_5'UTR			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	439	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CAAATTTTCAGGTGTGGGTAC	0.378000													99	166					0	0	0.014410	0	0
PTPRU	10076	broad.mit.edu	37	1	29611349	29611349	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:29611349C>T	ENST00000356870.3	+	14	2396	c.2286C>T	c.(2284-2286)ctC>ctT	p.L762L	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Silent_p.L762L|PTPRU_ENST00000428026.2_Silent_p.L762L|PTPRU_ENST00000373779.3_Silent_p.L762L|PTPRU_ENST00000323874.8_Silent_p.L762L|PTPRU_ENST00000345512.3_Silent_p.L762L	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	762					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TCATCCTTCTCCTGGGTGCCA	0.607000													24	26					0	0	0.003330	0	0
EDNRB	1910	broad.mit.edu	37	13	78474728	78474728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:78474728G>A	ENST00000377211.4	-	6	1435	c.1283C>T	c.(1282-1284)cCc>cTc	p.P428L	EDNRB_ENST00000334286.5_Missense_Mutation_p.P338L|EDNRB_ENST00000446573.1_Missense_Mutation_p.P338L	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	338					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GAGGTGAAGGGGAAGCCAGCA	0.433000													41	51					0	0	0.006999	0	0
SIK1	150094	broad.mit.edu	37	21	44837584	44837584	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:44837584G>A	ENST00000270162.6	-	13	1947	c.1815C>T	c.(1813-1815)atC>atT	p.I605I		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	605					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CCAGCCCCTTGATTTTGTTCA	0.662000													7	10					0	0	0.001984	0	0
BRD8	10902	broad.mit.edu	37	5	137475807	137475807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:137475807C>T	ENST00000254900.5	-	27	4035	c.3664G>A	c.(3664-3666)Gga>Aga	p.G1222R		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1222					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTGGTTCTCCTTCCAGACTA	0.413000													22	68					0	0	0.003271	0	0
ILF3	3609	broad.mit.edu	37	19	10799883	10799883	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:10799883C>T	ENST00000449870.1	+	20	2909	c.2592C>T	c.(2590-2592)tcC>tcT	p.S864S	ILF3_ENST00000590261.1_Silent_p.S860S|ILF3_ENST00000318511.3_Silent_p.S860S|ILF3_ENST00000588657.1_Silent_p.S864S|ILF3_ENST00000586544.1_3'UTR	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	860	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			ACTACAACTCCCCGGGGTCCG	0.607000													76	156					0	0	0.014410	0	0
FN1	2335	broad.mit.edu	37	2	216274369	216274369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:216274369G>A	ENST00000354785.4	-	15	2585	c.2216C>T	c.(2215-2217)tCc>tTc	p.S739F	FN1_ENST00000443816.1_Missense_Mutation_p.S739F|FN1_ENST00000446046.1_Missense_Mutation_p.S739F|FN1_ENST00000432072.2_Missense_Mutation_p.S739F|FN1_ENST00000421182.1_Missense_Mutation_p.S739F|FN1_ENST00000359671.1_Missense_Mutation_p.S739F|FN1_ENST00000357867.4_Missense_Mutation_p.S739F|FN1_ENST00000357009.2_Missense_Mutation_p.S739F|FN1_ENST00000356005.4_Missense_Mutation_p.S739F|FN1_ENST00000346544.3_Missense_Mutation_p.S739F|FN1_ENST00000345488.5_Missense_Mutation_p.S739F|FN1_ENST00000336916.4_Missense_Mutation_p.S739F|FN1_ENST00000323926.6_Missense_Mutation_p.S739F			P02751	FINC_HUMAN	fibronectin 1	739	Fibronectin type-III 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAGACCCAGGAGACCACAAA	0.537000													17	18					0	0	0.006122	0	0
COL6A6	131873	broad.mit.edu	37	3	130311923	130311923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:130311923G>A	ENST00000358511.6	+	15	4421	c.4390G>A	c.(4390-4392)Gga>Aga	p.G1464R	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1464R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1464	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGGGGAAAATGGAATTGACGG	0.368000													89	175					0	0	0.014410	0	0
NPY4R	5540	broad.mit.edu	37	10	47087904	47087904	+	Missense_Mutation	SNP	C	C	T	rs143707760		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:47087904C>T	ENST00000374312.1	+	3	1540	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L	NPY4R_ENST00000395716.1_Missense_Mutation_p.P374L	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4									p.P374L(1)									AGGTCCAATCCCATTTAACCA	0.587000													19	41					0	0	0.010504	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748259	19748259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:19748259C>T	ENST00000400113.3	-	5	1201	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	366					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGCCAGGTCTCCCCCAGGGAC	0.582000													21	77					0	0	0.010504	0	0
ALDH3B2	222	broad.mit.edu	37	11	67433852	67433852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:67433852G>A	ENST00000349015.3	-	5	610	c.172C>T	c.(172-174)Ccg>Tcg	p.P58S	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.P58S	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	58					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	p.P58S(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	ATTTCTGACGGCTTCAGCACC	0.672000													4	6					0	0	0.009096	0	0
MFAP4	4239	broad.mit.edu	37	17	19289711	19289711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:19289711G>A	ENST00000395592.2	-	3	295	c.224C>T	c.(223-225)tCa>tTa	p.S75L	MFAP4_ENST00000299610.4_Missense_Mutation_p.S51L|MFAP4_ENST00000497081.2_Missense_Mutation_p.S76L	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	51	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CACGCCGTCTGACTGGTAGCC	0.617000													10	11					0	0	0.008291	0	0
TRMT12	55039	broad.mit.edu	37	8	125463585	125463585	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:125463585T>A	ENST00000328599.3	+	1	538	c.417T>A	c.(415-417)aaT>aaA	p.N139K	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	139					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGCATGGTAATCTCTTGTTGC	0.552000													37	75					0	0	0.006230	0	0
SRRM2	23524	broad.mit.edu	37	16	2818193	2818193	+	Missense_Mutation	SNP	C	C	T	rs141595233		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:2818193C>T	ENST00000301740.8	+	11	8213	c.7664C>T	c.(7663-7665)tCc>tTc	p.S2555F	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2555	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						tcctcctcctcctcTGGCTCC	0.577000													13	20					0	0	0.013537	0	0
AP3S1	1176	broad.mit.edu	37	5	115249063	115249063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:115249063G>A	ENST00000316788.7	+	6	1015	c.458G>A	c.(457-459)gGc>gAc	p.G153D	AP3S1_ENST00000505423.1_3'UTR	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	153					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		ATACAGGCTGGCTTAGCAGGA	0.363000													19	50					0	0	0.007413	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	43					0	0	0.009096	0	0
OR5M1	390168	broad.mit.edu	37	11	56380059	56380059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:56380059C>T	ENST00000526538.1	-	1	919	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AAAGGATTTTCCCCTAATCAT	0.383000													73	103					0	0	0.014410	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390873	8390873	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:8390873G>A	ENST00000471889.1	+	5	1705	c.1320G>A	c.(1318-1320)ttG>ttA	p.L440L	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Silent_p.L474L|SLC45A1_ENST00000289877.8_Silent_p.L440L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	440					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCTCCTTGGACACCTCTA	0.642000													23	22					0	0	0.003330	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782538	115782538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:115782538C>T	ENST00000343348.6	-	19	3651	c.2864G>A	c.(2863-2865)aGg>aAg	p.R955K	SEMA6A_ENST00000257414.8_Missense_Mutation_p.R972K|SEMA6A_ENST00000513137.1_Missense_Mutation_p.R382K|SEMA6A_ENST00000510263.1_Missense_Mutation_p.R955K|SEMA6A_ENST00000503865.1_Missense_Mutation_p.R334K|SEMA6A_ENST00000282394.6_Missense_Mutation_p.R432K	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	955					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GTTGTCTCCCCTGCCAAAGCT	0.612000													13	16					0	0	0.002450	0	0
CNTN6	27255	broad.mit.edu	37	3	1427326	1427326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:1427326C>T	ENST00000446702.2	+	20	3176	c.2549C>T	c.(2548-2550)tCc>tTc	p.S850F	CNTN6_ENST00000350110.2_Missense_Mutation_p.S850F|CNTN6_ENST00000539053.1_Missense_Mutation_p.S778F			Q9UQ52	CNTN6_HUMAN	contactin 6	850	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCCAAAGAATCCATGATAGGT	0.353000													46	84					0	0	0.011902	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				60	55					0	0	0.014410	0	0
KDM2A	22992	broad.mit.edu	37	11	67020215	67020215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:67020215C>T	ENST00000529006.2	+	18	3265	c.2819C>T	c.(2818-2820)gCc>gTc	p.A940V	KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.A501V|KDM2A_ENST00000308783.5_Missense_Mutation_p.A398V	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	940					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGGTGTAAGGCCATTGTGCCC	0.498000											OREG0021121	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	23					0	0	0.003163	0	0
SSH1	54434	broad.mit.edu	37	12	109201541	109201541	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:109201541C>T	ENST00000326495.5	-	8	692	c.599G>A	c.(598-600)gGg>gAg	p.G200E	SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000551165.1_Missense_Mutation_p.G200E|SSH1_ENST00000326470.5_Missense_Mutation_p.G211E	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	200					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCTACACCCCCGGGGAAGTA	0.617000													18	38					0	0	0.006122	0	0
OTUD7A	161725	broad.mit.edu	37	15	31851206	31851206	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:31851206G>A	ENST00000382902.1	-	3	608	c.516C>T	c.(514-516)atC>atT	p.I172I	OTUD7A_ENST00000307050.4_Silent_p.I172I			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	172	TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TTGCCTGCTCGATCAAGTCCC	0.567000													17	25					0	0	0.007413	0	0
SLC6A7	6534	broad.mit.edu	37	5	149585174	149585174	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:149585174C>T	ENST00000230671.2	+	13	2060	c.1689C>T	c.(1687-1689)ggC>ggT	p.G563G	SLC6A7_ENST00000524041.1_Silent_p.G563G	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	563						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GAGAAGAGGGCTCACTCTGGG	0.617000													25	43					0	0	0.005443	0	0
GPR158	57512	broad.mit.edu	37	10	25886748	25886748	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:25886748G>A	ENST00000376351.3	+	11	2552	c.2193G>A	c.(2191-2193)aaG>aaA	p.K731K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	731						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATAAAAGAAAGAAGATGATCA	0.438000													34	93					0	0	0.013726	0	0
TRIM17	51127	broad.mit.edu	37	1	228596894	228596894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:228596894C>T	ENST00000366697.2	-	5	1818	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	TRIM17_ENST00000295033.3_Missense_Mutation_p.E288K|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Missense_Mutation_p.E288K|TRIM17_ENST00000456946.2_Missense_Mutation_p.E288K			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	288	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CTTAGCACTTCAATCTGTCCG	0.602000													59	91					0	0	0.014410	0	0
LRRC8B	23507	broad.mit.edu	37	1	90050181	90050181	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:90050181C>T	ENST00000330947.2	+	5	2332	c.1972C>T	c.(1972-1974)Cta>Tta	p.L658L	RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Silent_p.L658L|LRRC8B_ENST00000439853.1_Silent_p.L658L	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	658						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		ATTATCTAACCTAGAGCAGCT	0.378000													49	113					0	0	0.014410	0	0
HRH4	59340	broad.mit.edu	37	18	22057039	22057039	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:22057039G>A	ENST00000256906.4	+	3	786	c.686G>A	c.(685-687)aGa>aAa	p.R229K	HRH4_ENST00000426880.2_Missense_Mutation_p.R141K	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	229						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	CACTCATTCAGAGGTAGACTA	0.453000													44	100					0	0	0.010771	0	0
TIAM2	26230	broad.mit.edu	37	6	155451258	155451258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:155451258G>A	ENST00000461783.3	+	6	2174	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	TIAM2_ENST00000318981.5_Missense_Mutation_p.E301K|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.E301K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E301K|TIAM2_ENST00000529824.2_Missense_Mutation_p.E301K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	301					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.E301Q(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTCCCTCCGGGAACTGTACAA	0.597000													28	12					0	0	0.009535	0	0
TBX19	9095	broad.mit.edu	37	1	168274397	168274397	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:168274397C>T	ENST00000367821.3	+	6	930	c.879C>T	c.(877-879)taC>taT	p.Y293Y		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	293					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					AGGCTCCCTACCCTTCTGCGT	0.582000													38	93					0	0	0.011902	0	0
DMBT1	1755	broad.mit.edu	37	10	124361432	124361432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:124361432G>A	ENST00000338354.3	+	29	3569	c.3463G>A	c.(3463-3465)Gat>Aat	p.D1155N	DMBT1_ENST00000330163.4_Missense_Mutation_p.D656N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1145N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D656N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1145N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.D1155N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1155	SRCR 9.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGACACCAATGATGCCAATGT	0.602000													91	60					0	0	0.014410	0	0
ATG2A	23130	broad.mit.edu	37	11	64675086	64675086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:64675086G>A	ENST00000421419.2	-	18	2672	c.2558C>T	c.(2557-2559)cCc>cTc	p.P853L	ATG2A_ENST00000377264.3_Missense_Mutation_p.P853L			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	853							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGCGGGGTCGGGGGTGGGAAG	0.632000													11	5					0	0	0.008291	0	0
PALLD	23022	broad.mit.edu	37	4	169812091	169812091	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:169812091C>T	ENST00000335742.7	+	12	2866	c.1509C>T	c.(1507-1509)gcC>gcT	p.A503A	PALLD_ENST00000507735.1_Silent_p.A174A|PALLD_ENST00000512127.1_Silent_p.A279A|PALLD_ENST00000261509.6_Silent_p.A661A|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000505667.1_Silent_p.A661A			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	885	Ig-like C2-type 2.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAAAGAAGGCCAGTAGAACTG	0.433000									Pancreatic Cancer, Familial Clustering of				43	53					0	0	0.011902	0	0
ANO3	63982	broad.mit.edu	37	11	26463531	26463531	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:26463531C>G	ENST00000256737.3	+	2	965	c.113C>G	c.(112-114)cCt>cGt	p.P38R	ANO3_ENST00000525139.1_Missense_Mutation_p.P22R|ANO3_ENST00000537978.1_Missense_Mutation_p.P22R|ANO3_ENST00000531646.1_Missense_Mutation_p.P38R	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	38						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AGATCCCTGCCTTGCCTCGCC	0.443000													72	104					0	0	0.014410	0	0
WEE2	494551	broad.mit.edu	37	7	141408767	141408767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:141408767C>T	ENST00000397541.2	+	1	615	c.209C>T	c.(208-210)tCg>tTg	p.S70L	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	70					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GACACATCTTCGGAAAAAGAC	0.517000													107	120					0	0	0.014410	0	0
RASGRF1	5923	broad.mit.edu	37	15	79291164	79291164	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:79291164A>T	ENST00000419573.3	-	19	3072	c.2798T>A	c.(2797-2799)tTt>tAt	p.F933Y	RASGRF1_ENST00000394745.3_Missense_Mutation_p.F149Y|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.F917Y	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	935					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTCTGGGGGAAACCCTGGCAG	0.567000													21	55					0	0	0.014323	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080210	57080210	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:57080210A>C	ENST00000532437.1	-	4	2263	c.1952T>G	c.(1951-1953)gTg>gGg	p.V651G	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.V651G			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	651	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGCTAGGGTCACGGCCTCCTC	0.657000													25	38					0	0	0.003330	0	0
AOC2	314	broad.mit.edu	37	17	41002308	41002308	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:41002308C>T	ENST00000253799.3	+	4	2241	c.2214C>T	c.(2212-2214)ctC>ctT	p.L738L	AOC2_ENST00000452774.2_Silent_p.L711L	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	738					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGGCCTGCCTCCCCGACCTGG	0.587000													75	178					0	0	0.014410	0	0
TM4SF4	7104	broad.mit.edu	37	3	149192738	149192738	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:149192738A>G	ENST00000305354.4	+	1	978	c.74A>G	c.(73-75)aAc>aGc	p.N25S		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	25						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTCCTGGCTAACATCCTGTTA	0.507000													13	32					0	0	0.013537	0	0
CMYA5	202333	broad.mit.edu	37	5	79028080	79028080	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:79028080C>T	ENST00000446378.2	+	2	3523	c.3492C>T	c.(3490-3492)acC>acT	p.T1164T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1164						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGGAAGAAACCAAACCTGCAT	0.448000													18	32					0	0	0.006122	0	0
GLB1L2	89944	broad.mit.edu	37	11	134240234	134240234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:134240234G>A	ENST00000535456.2	+	12	1344	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Missense_Mutation_p.E386K|GLB1L2_ENST00000339772.7_Missense_Mutation_p.E386K	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	386					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GATGCCGTATGAGCCCTTAAC	0.597000													57	102					0	0	0.014410	0	0
COL8A1	1295	broad.mit.edu	37	3	99514644	99514644	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:99514644G>A	ENST00000261037.3	+	5	2279	c.1899G>A	c.(1897-1899)gtG>gtA	p.V633V	COL8A1_ENST00000273342.4_Silent_p.V633V	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	633	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGGCCCCAGTGAAGTTTAACA	0.547000													17	32					0	0	0.004990	0	0
GPR98	84059	broad.mit.edu	37	5	89979591	89979591	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:89979591C>T	ENST00000405460.2	+	28	5949	c.5853C>T	c.(5851-5853)gtC>gtT	p.V1951V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1951			V -> I (in dbSNP:rs4916684).		cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTGTGTCAGTCCTCAGTGTTT	0.433000													21	22					0	0	0.012319	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760986	186760986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:186760986G>A	ENST00000169298.3	+	4	1169	c.495G>A	c.(493-495)tgG>tgA	p.W165*	ST6GAL1_ENST00000448044.1_Nonsense_Mutation_p.W165*|ST6GAL1_ENST00000457772.2_Intron	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	165					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CCTCTGAATGGGAGGGTTATC	0.552000													32	76					0	0	0.010818	0	0
NRXN1	9378	broad.mit.edu	37	2	50780024	50780024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:50780024G>A	ENST00000404971.1	-	10	2919	c.1580C>T	c.(1579-1581)cCa>cTa	p.P527L	NRXN1_ENST00000406859.3_Missense_Mutation_p.P487L|NRXN1_ENST00000406316.2_Missense_Mutation_p.P487L|NRXN1_ENST00000405472.3_Missense_Mutation_p.P479L|NRXN1_ENST00000402717.3_Missense_Mutation_p.P479L|NRXN1_ENST00000401669.2_Missense_Mutation_p.P487L|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	487	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAAAGACTCTGGGGTTTCAAA	0.418000													35	89					0	0	0.012213	0	0
WASF2	10163	broad.mit.edu	37	1	27736314	27736314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:27736314G>A	ENST00000430629.2	-	8	1426	c.1211C>T	c.(1210-1212)cCt>cTt	p.P404L	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	404	Poly-Pro.				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GAAAGGGGGAGGAGGGGGCCC	0.642000													21	23					0	0	0.010504	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011221	160011221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:160011221C>T	ENST00000368089.3	-	2	1328	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	368						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCACTGCCCTCCTTCTCAGCT	0.542000													10	28					0	0	0.006214	0	0
STEAP1	26872	broad.mit.edu	37	7	89793801	89793801	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:89793801G>A	ENST00000297205.2	+	5	973	c.773G>A	c.(772-774)gGa>gAa	p.G258E	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	258	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					AGCAAGCTAGGAATTGTTTCC	0.368000													121	88					0	0	0.014410	0	0
OTOL1	131149	broad.mit.edu	37	3	161214749	161214749	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:161214749C>T	ENST00000327928.4	+	1	154	c.154C>T	c.(154-156)Cca>Tca	p.P52S		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	52						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TGGCCCACCTCCAGAAGAAGA	0.463000													29	50					0	0	0.006320	0	0
OTOL1	131149	broad.mit.edu	37	3	161220831	161220831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:161220831G>A	ENST00000327928.4	+	4	535	c.535G>A	c.(535-537)Gga>Aga	p.G179R		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	179						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TGGCCCTAAGGGAGATAAAGG	0.413000													3	4					0	0	0.009096	0	0
VWF	7450	broad.mit.edu	37	12	6105273	6105273	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:6105273C>T	ENST00000261405.5	-	35	6212	c.5958G>A	c.(5956-5958)gtG>gtA	p.V1986V		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1986	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TATGGAGAATCACCTCCAGGT	0.537000													11	29					0	0	0.001855	0	0
RIN1	9610	broad.mit.edu	37	11	66102365	66102365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:66102365C>T	ENST00000311320.4	-	6	1031	c.905G>A	c.(904-906)gGc>gAc	p.G302D	RIN1_ENST00000530056.1_Missense_Mutation_p.G197D|RIN1_ENST00000424433.2_Missense_Mutation_p.G197D|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	302	Ras and 14-3-3 protein binding region.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						AAGGCTAGGGCCACTGCCTGC	0.716000													3	7					0	0	0.004672	0	0
SELP	6403	broad.mit.edu	37	1	169572414	169572414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:169572414C>T	ENST00000263686.6	-	10	1592	c.1555G>A	c.(1555-1557)Gga>Aga	p.G519R	SELP_ENST00000458599.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.G457R|SELP_ENST00000367792.2_Intron|SELP_ENST00000367791.2_Missense_Mutation_p.G395R|SELP_ENST00000367788.2_Missense_Mutation_p.G457R|SELP_ENST00000367793.2_Missense_Mutation_p.G457R|SELP_ENST00000367786.2_Missense_Mutation_p.G457R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	519	Sushi 6.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTCATTGTTCCATTCTGAGGG	0.423000													42	86					0	0	0.013114	0	0
CABP4	57010	broad.mit.edu	37	11	67222865	67222865	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:67222865G>A	ENST00000325656.5	+	0	48				CABP4_ENST00000438189.2_Intron|CABP4_ENST00000542025.2_Intron	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4						visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCAGGGGTGTGGTGTCTCTGA	0.617000													6	16					0	0	0.001168	0	0
FMN2	56776	broad.mit.edu	37	1	240374485	240374485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:240374485G>A	ENST00000319653.9	+	6	4245	c.4015G>A	c.(4015-4017)Gag>Aag	p.E1339K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1339	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGCTGTAAAGGAGAGAAAGAA	0.343000													32	87					0	0	0.012213	0	0
VWA3A	146177	broad.mit.edu	37	16	22132860	22132860	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:22132860C>T	ENST00000389398.5	+	14	1374	c.1278C>T	c.(1276-1278)gtC>gtT	p.V426V	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	426						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TATATCAGGTCCTGGCACCCA	0.413000													58	118					0	0	0.014410	0	0
LINGO4	339398	broad.mit.edu	37	1	151773494	151773494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:151773494G>A	ENST00000368820.3	-	2	2624	c.1687C>T	c.(1687-1689)Cgg>Tgg	p.R563W		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	563						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGTTTGACCCGACCTTTGCCC	0.567000													39	102					0	0	0.008740	0	0
ZIC3	7547	broad.mit.edu	37	X	136649796	136649796	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:136649796G>T	ENST00000287538.5	+	1	1496	c.946G>T	c.(946-948)Gtc>Ttc	p.V316F	ZIC3_ENST00000370606.3_Missense_Mutation_p.V316F	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	316	Nuclear localization signal.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GTACAAACTGGTCAACCACAT	0.602000													59	90					3.00467e-41	3.11595e-41	0.014410	1	0
USP9X	8239	broad.mit.edu	37	X	41007791	41007791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:41007791G>A	ENST00000324545.7	+	12	2222	c.1589G>A	c.(1588-1590)aGt>aAt	p.S530N	USP9X_ENST00000378308.2_Missense_Mutation_p.S530N	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	530					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTGGCTCTCAGTGCCCACATA	0.438000													44	69					0	0	0.013114	0	0
TTC38	55020	broad.mit.edu	37	22	46684422	46684422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:46684422C>T	ENST00000381031.3	+	11	1095	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	TTC38_ENST00000445282.2_Missense_Mutation_p.S282F	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	340							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						CTGATGGCATCCCTGGGTGCA	0.652000													52	85					0	0	0.014410	0	0
TBX19	9095	broad.mit.edu	37	1	168274388	168274388	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:168274388G>A	ENST00000367821.3	+	6	921	c.870G>A	c.(868-870)caG>caA	p.Q290Q		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	290					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GACACCGGCAGGCTCCCTACC	0.587000													41	91					0	0	0.014410	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037190	129037190	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:129037190C>T	ENST00000274487.4	+	20	3191	c.3046C>T	c.(3046-3048)Cga>Tga	p.R1016*	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1016	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R1016*(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GATTAGAGCCCGAGAGAGGGA	0.582000													18	43					0	0	0.006122	0	0
PTK6	5753	broad.mit.edu	37	20	62168489	62168489	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:62168489C>A	ENST00000217185.2	-	1	206	c.179G>T	c.(178-180)gGc>gTc	p.G60V	PTK6_ENST00000542869.1_5'UTR	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	60	SH3.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			GGGCACATAGCCCTGGGCCAC	0.687000													8	15					1.12685e-05	1.14975e-05	0.004482	1	0
APBA1	320	broad.mit.edu	37	9	72064563	72064563	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:72064563G>A	ENST00000265381.4	-	10	2340	c.2118C>T	c.(2116-2118)atC>atT	p.I706I		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	706	PDZ 1.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TAATGGACATGATCTGGTCAC	0.512000													55	48					0	0	0.014410	0	0
C10orf11	83938	broad.mit.edu	37	10	77818529	77818529	+	Silent	SNP	G	G	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:77818529G>T	ENST00000372499.1	+	4	635	c.420G>T	c.(418-420)gtG>gtT	p.V140V	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	140										endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					TCATGAAGGTGGTGAAGCCCA	0.498000													22	19					2.89027e-11	2.96146e-11	0.014323	1	0
CENPC	1060	broad.mit.edu	37	4	68406743	68406743	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:68406743C>A	ENST00000273853.6	-	3	341	c.91G>T	c.(91-93)Ggc>Tgc	p.G31C		NM_001812.2	NP_001803.2			centromere protein C																		ACATTCTGGCCTTGCTCTGTG	0.328000													5	11					0.000602214	0.000613593	0.000602	1	0
POTEF	728378	broad.mit.edu	37	2	130877694	130877694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:130877694C>T	ENST00000357462.5	-	1	488	c.395G>A	c.(394-396)aGg>aAg	p.R132K	POTEF_ENST00000361163.4_Missense_Mutation_p.R132K|POTEF_ENST00000360967.5_Missense_Mutation_p.R132K|POTEF_ENST00000409914.2_Missense_Mutation_p.R132K			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	132						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GACGTGGTACCTGGGCTCCAT	0.597000													32	28					0	0	0.004878	0	0
EGFLAM	133584	broad.mit.edu	37	5	38438452	38438452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:38438452C>T	ENST00000322350.5	+	17	2705	c.2359C>T	c.(2359-2361)Ccc>Tcc	p.P787S	EGFLAM_ENST00000354891.3_Missense_Mutation_p.P787S|EGFLAM_ENST00000336740.6_Missense_Mutation_p.P553S|EGFLAM_ENST00000397202.2_Missense_Mutation_p.P153S	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	787	EGF-like 3.|Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGCGGCCCACCCCTGTGTGAG	0.557000													18	26					0	0	0.004990	0	0
PPARG	5468	broad.mit.edu	37	3	12458497	12458497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:12458497G>A	ENST00000397026.2	+	8	1431	c.1048G>A	c.(1048-1050)Ggc>Agc	p.G350S	PPARG_ENST00000539812.1_Intron|PPARG_ENST00000287820.6_Missense_Mutation_p.G372S|PPARG_ENST00000309576.6_Missense_Mutation_p.G344S|PPARG_ENST00000397010.2_Missense_Mutation_p.G344S|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397015.2_Missense_Mutation_p.G344S|PPARG_ENST00000397012.2_Missense_Mutation_p.G344S			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	372	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CATATCCGAGGGCCAAGGCTT	0.453000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						62	97					0	0	0.014410	0	0
GALNT3	2591	broad.mit.edu	37	2	166611212	166611212	+	Silent	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:166611212A>G	ENST00000392701.3	-	9	2326	c.1551T>C	c.(1549-1551)tgT>tgC	p.C517C	GALNT3_ENST00000409882.1_Silent_p.C255C	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	517	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CAACATCCAGACATAGAGGCT	0.318000													17	7					0	0	0.007413	0	0
DUSP27	92235	broad.mit.edu	37	1	167097201	167097201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:167097201G>A	ENST00000361200.2	+	6	2999	c.2833G>A	c.(2833-2835)Gag>Aag	p.E945K	DUSP27_ENST00000271385.5_Missense_Mutation_p.E945K|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.E945K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	945	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCTCAGGACGGAGGAAAAACC	0.502000													17	27					0	0	0.004007	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102895234	102895234	+	RNA	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:102895234G>A	ENST00000312132.4	-	0	2610																											CTTACCTTAGGTATGTTCCAT	0.318000													6	51					0	0	0.001168	0	0
SSPO	23145	broad.mit.edu	37	7	149479935	149479935	+	RNA	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:149479935G>A	ENST00000378016.2	+	0	1901							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGTTCCAGGAGCTGTGCTG	0.612000													22	42					0	0	0.002780	0	0
SPTB	6710	broad.mit.edu	37	14	65252492	65252492	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:65252492C>T	ENST00000389722.3	-	16	3792	c.3739G>A	c.(3739-3741)Gag>Aag	p.E1247K	SPTB_ENST00000389720.3_Missense_Mutation_p.E1247K|SPTB_ENST00000389721.5_Missense_Mutation_p.E1247K|SPTB_ENST00000542895.1_Missense_Mutation_p.E1247K|SPTB_ENST00000556626.1_Missense_Mutation_p.E1247K	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1247					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCACCTTCTCCTTGATCTTG	0.577000													89	160					0	0	0.014410	0	0
MED12	9968	broad.mit.edu	37	X	70343562	70343562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:70343562C>T	ENST00000333646.6	+	12	1935	c.1736C>T	c.(1735-1737)cCc>cTc	p.P579L	MED12_ENST00000374102.1_Missense_Mutation_p.P579L|MED12_ENST00000374080.3_Missense_Mutation_p.P579L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	579					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ACACAGGCTCCCATGCTGAGT	0.532000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						3	7					0	0	0.004672	0	0
LARP6	55323	broad.mit.edu	37	15	71124524	71124524	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:71124524G>A	ENST00000299213.8	-	3	1413	c.1343C>T	c.(1342-1344)cCc>cTc	p.P448L		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	448					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						ACTCGTACCGGGGCTTTTCTC	0.612000													22	105					0	0	0.010818	0	0
USP53	54532	broad.mit.edu	37	4	120194809	120194809	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:120194809C>T	ENST00000450251.1	+	13	2741	c.2197C>T	c.(2197-2199)Cta>Tta	p.L733L	USP53_ENST00000274030.6_Silent_p.L733L			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	733					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GACAAGCAACCTAAATAAAGA	0.323000													7	32					0	0	0.003080	0	0
PRKAG3	53632	broad.mit.edu	37	2	219693282	219693282	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:219693282C>T	ENST00000439262.2	-	5	695	c.600G>A	c.(598-600)cgG>cgA	p.R200R	PRKAG3_ENST00000545803.1_Silent_p.R41R|PRKAG3_ENST00000529249.1_Silent_p.R225R|PRKAG3_ENST00000392098.3_Silent_p.R225R	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	225	CBS 1.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGGGCTGCCCGCACACCGT	0.612000													5	6					0	0	0.003080	0	0
SLC25A10	1468	broad.mit.edu	37	17	79671403	79671403	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:79671403C>T	ENST00000571730.1	+	2	335	c.204C>T	c.(202-204)gtC>gtT	p.V68V	MRPL12_ENST00000333676.3_Silent_p.V68V|SLC25A10_ENST00000541223.1_Silent_p.V68V			Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	AGCAGCTGGTCCAGGACATCG	0.592000													11	21					0	0	0.010729	0	0
NCL	4691	broad.mit.edu	37	2	232326725	232326725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:232326725C>T	ENST00000322723.4	-	3	379	c.139G>A	c.(139-141)Gtc>Atc	p.V47I		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	47					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TGAGGTATGACGACCTTGAGA	0.473000													47	48					0	0	0.014410	0	0
MALAT1	378938	broad.mit.edu	37	11	65273653	65273653	+	RNA	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:65273653G>A	ENST00000534336.1	+	0	8421					NR_002819.2																						TCTTTGCTTTGACTACTAATC	0.453000													18	39					0	0	0.007413	0	0
GZMH	2999	broad.mit.edu	37	14	25075950	25075950	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:25075950C>T	ENST00000216338.4	-	5	644	c.600G>A	c.(598-600)ggG>ggA	p.G200G	RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000557220.2_Silent_p.G69G|GZMH_ENST00000382548.4_Silent_p.G114G	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	200	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		CCCCGGAGTCCCCCTGTGAAC	0.532000													23	49					0	0	0.004656	0	0
CDCA2	157313	broad.mit.edu	37	8	25323824	25323824	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:25323824C>T	ENST00000330560.3	+	5	998	c.521C>T	c.(520-522)tCc>tTc	p.S174F	CDCA2_ENST00000380665.3_Missense_Mutation_p.S159F	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	174					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GGAAAAGAGTCCGAGATGACA	0.378000													27	49					0	0	0.007291	0	0
ZNF317	57693	broad.mit.edu	37	19	9270973	9270973	+	Missense_Mutation	SNP	G	G	T	rs138310051		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:9270973G>T	ENST00000247956.6	+	7	957	c.652G>T	c.(652-654)Ggg>Tgg	p.G218W	ZNF317_ENST00000360385.3_Missense_Mutation_p.G186W	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CATGTACGACGGGAGAAAAAT	0.577000													3	32					0.00909568	0.00922879	0.009096	1	0
LRRK2	120892	broad.mit.edu	37	12	40692938	40692938	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:40692938C>T	ENST00000298910.7	+	25	3433	c.3375C>T	c.(3373-3375)ccC>ccT	p.P1125P	LRRK2_ENST00000343742.2_Silent_p.P1125P	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1125					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TATGCTCCCCCTTGAGACTGA	0.328000													50	69					0	0	0.014410	0	0
TSC22D3	1831	broad.mit.edu	37	X	106959954	106959954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:106959954C>T	ENST00000372397.2	-	1	411	c.88G>A	c.(88-90)Gga>Aga	p.G30R	TSC22D3_ENST00000372383.4_Intron|TSC22D3_ENST00000514426.1_Intron|TSC22D3_ENST00000506081.1_Intron|TSC22D3_ENST00000315660.4_Intron|TSC22D3_ENST00000372384.2_Intron|TSC22D3_ENST00000372382.4_Intron	NM_004089.3	NP_004080.2	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	30	AP1-binding (By similarity).						sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)|lung(3)	6						ACATCCCCTCCAAGCAGAGAA	0.622000													23	50					0	0	0.002780	0	0
SHROOM4	57477	broad.mit.edu	37	X	50339752	50339752	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:50339752C>T	ENST00000376020.2	-	9	4450	c.4425G>A	c.(4423-4425)ggG>ggA	p.G1475G	SHROOM4_ENST00000289292.7_Silent_p.G1475G|SHROOM4_ENST00000460112.3_Silent_p.G1359G	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1475	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GTTGCTCTTCCCCGAGCTTGA	0.522000													21	31					0	0	0.010504	0	0
CNTN5	53942	broad.mit.edu	37	11	100064354	100064354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:100064354G>A	ENST00000524871.1	+	15	2133	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	CNTN5_ENST00000279463.3_Missense_Mutation_p.D615N|CNTN5_ENST00000527185.1_Missense_Mutation_p.D615N|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.D541N|CNTN5_ENST00000528682.1_Missense_Mutation_p.D615N	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	615	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACAGCCTATTGATTTCGAGGA	0.368000													27	46					0	0	0.012213	0	0
FCGBP	8857	broad.mit.edu	37	19	40433797	40433797	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:40433797C>T	ENST00000221347.6	-	2	479	c.472G>A	c.(472-474)Gag>Aag	p.E158K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	158	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGGCAAACTCCTTGACATTC	0.612000													28	49					0	0	0.006320	0	0
AOC2	314	broad.mit.edu	37	17	41002309	41002309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:41002309C>T	ENST00000253799.3	+	4	2242	c.2215C>T	c.(2215-2217)Ccc>Tcc	p.P739S	AOC2_ENST00000452774.2_Missense_Mutation_p.P712S	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	739					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGCCTGCCTCCCCGACCTGGC	0.587000													78	178					0	0	0.014410	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764725	77764725	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:77764725G>A	ENST00000521891.2	+	10	6016	c.5568G>A	c.(5566-5568)aaG>aaA	p.K1856K	ZFHX4_ENST00000455469.2_Silent_p.K1811K|ZFHX4_ENST00000518282.1_Silent_p.K1830K|ZFHX4_ENST00000050961.6_Silent_p.K1811K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1811						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATCTTATAAGGAGGCAGAAG	0.398000										HNSCC(33;0.089)			6	5					0	0	0.001168	0	0
PLXDC1	57125	broad.mit.edu	37	17	37262116	37262116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:37262116C>T	ENST00000315392.4	-	7	1013	c.802G>A	c.(802-804)Gat>Aat	p.D268N	PLXDC1_ENST00000444911.2_Missense_Mutation_p.D228N|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_Missense_Mutation_p.D195N|PLXDC1_ENST00000394316.2_Missense_Mutation_p.D268N	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	268					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCTGGCACATCCGGGGATGGA	0.602000													40	78					0	0	0.009718	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617404	77617404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:77617404C>T	ENST00000521891.2	+	2	1529	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R361C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R361C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R361C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	361						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCAACCTTCCGCGGTTTATG	0.458000										HNSCC(33;0.089)			44	62					0	0	0.013114	0	0
COL5A1	1289	broad.mit.edu	37	9	137726842	137726842	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:137726842A>G	ENST00000371817.3	+	65	5576	c.5162A>G	c.(5161-5163)aAc>aGc	p.N1721S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1721	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCGAGGGCAACCCTGTGGGT	0.647000													8	3					0	0	0.004482	0	0
CDH18	1016	broad.mit.edu	37	5	19838942	19838942	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:19838942T>C	ENST00000507958.1	-	5	1144	c.154A>G	c.(154-156)Aaa>Gaa	p.K52E	CDH18_ENST00000506372.1_Missense_Mutation_p.K52E|CDH18_ENST00000502796.1_Missense_Mutation_p.K52E|CDH18_ENST00000274170.4_Missense_Mutation_p.K52E|CDH18_ENST00000382275.1_Missense_Mutation_p.K52E|CDH18_ENST00000511273.1_Missense_Mutation_p.K52E			Q13634	CAD18_HUMAN	cadherin 18, type 2	52					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CATCCCCTTTTGGGACGATGA	0.418000													23	54					0	0	0.003954	0	0
HIST1H4G	8369	broad.mit.edu	37	6	26247052	26247052	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:26247052A>G	ENST00000244537.4	-	1	207	c.154T>C	c.(154-156)Tat>Cat	p.Y52H		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	52					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GTCTCCTCATAAATGAGGCCC	0.572000													34	29					0	0	0.013726	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037189	129037189	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:129037189C>T	ENST00000274487.4	+	20	3190	c.3045C>T	c.(3043-3045)gcC>gcT	p.A1015A	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1015	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGATTAGAGCCCGAGAGAGGG	0.582000													17	45					0	0	0.004990	0	0
BTAF1	9044	broad.mit.edu	37	10	93767976	93767976	+	Silent	SNP	T	T	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:93767976T>C	ENST00000265990.6	+	26	4065	c.3757T>C	c.(3757-3759)Ttg>Ctg	p.L1253L	BTAF1_ENST00000544642.1_Silent_p.L81L	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1253					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGGGAAAAAATTGGAAAATTA	0.363000													43	49					0	0	0.011902	0	0
HOXD4	3233	broad.mit.edu	37	2	177017652	177017652	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:177017652G>A	ENST00000306324.3	+	2	1162	c.750G>A	c.(748-750)acG>acA	p.T250T	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	250						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ACCACCACACGGACCTGACGA	0.622000													32	33					0	0	0.004878	0	0
HOOK1	51361	broad.mit.edu	37	1	60324130	60324130	+	Missense_Mutation	SNP	G	G	A	rs114487303	by1000genomes	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:60324130G>A	ENST00000371208.3	+	13	1530	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	HOOK1_ENST00000395561.2_Missense_Mutation_p.E383K|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	425	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TACTTTGAAAGAAACAAATGA	0.343000													25	47					0	0	0.003954	0	0
ICA1	3382	broad.mit.edu	37	7	8258122	8258122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:8258122C>T	ENST00000402384.3	-	6	658	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	ICA1_ENST00000401396.1_Missense_Mutation_p.R119Q|ICA1_ENST00000265577.7_Missense_Mutation_p.R130Q|ICA1_ENST00000407906.1_Missense_Mutation_p.R131Q|ICA1_ENST00000396675.3_Missense_Mutation_p.R131Q|ICA1_ENST00000406470.2_Missense_Mutation_p.R131Q|ICA1_ENST00000476942.1_5'UTR|ICA1_ENST00000422063.2_Missense_Mutation_p.R131Q			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	131	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CAAAGGATTTCGTAAGGCCAA	0.478000													33	28					0	0	0.012213	0	0
NRK	203447	broad.mit.edu	37	X	105152766	105152766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:105152766G>A	ENST00000428173.2	+	13	1439	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	NRK_ENST00000243300.9_Missense_Mutation_p.R378K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	378							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACCAGCAGCAGATGCAGACCA	0.493000										HNSCC(51;0.14)			16	39					0	0	0.006122	0	0
CD4	920	broad.mit.edu	37	12	6909310	6909310	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:6909310C>T	ENST00000011653.4	+	2	264	c.6C>T	c.(4-6)aaC>aaT	p.N2N	CD4_ENST00000538827.1_Intron|CD4_ENST00000541982.1_Silent_p.N2N	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	2					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CCACAATGAACCGGGGAGTCC	0.572000													17	44					0	0	0.006122	0	0
CDH22	64405	broad.mit.edu	37	20	44879780	44879780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:44879780C>T	ENST00000372262.3	-	1	554	c.154G>A	c.(154-156)Gac>Aac	p.D52N	CDH22_ENST00000537909.1_Missense_Mutation_p.D52N	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	52					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				AGCGCGCCGTCCTGCCGAGCT	0.726000													11	19					0	0	0.001855	0	0
MYH15	22989	broad.mit.edu	37	3	108220605	108220605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:108220605G>A	ENST00000273353.3	-	4	409	c.353C>T	c.(352-354)tCc>tTc	p.S118F		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	118	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATGCAGCACGGATGCCTCATT	0.468000													41	54					0	0	0.005524	0	0
SMARCC1	6599	broad.mit.edu	37	3	47777561	47777561	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:47777561A>G	ENST00000254480.5	-	5	658	c.539T>C	c.(538-540)tTg>tCg	p.L180S	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	180					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TTTGTTAGCCAACTTCAGATC	0.348000													25	43					0	0	0.006320	0	0
TNRC6B	23112	broad.mit.edu	37	22	40661873	40661873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:40661873C>T	ENST00000454349.2	+	5	1850	c.1639C>T	c.(1639-1641)Cct>Tct	p.P547S	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.P547S|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	547					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CCACCCCCTCCCTGAAAACCA	0.522000													20	39					0	0	0.007413	0	0
OR52R1	119695	broad.mit.edu	37	11	4825583	4825583	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:4825583A>C	ENST00000380382.1	-	1	264	c.265T>G	c.(265-267)Tct>Gct	p.S89A	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.S10A|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGGATGAGAAGAGCTGTTC	0.488000													22	36					0	0	0.012319	0	0
NEK5	341676	broad.mit.edu	37	13	52639552	52639552	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:52639552G>A	ENST00000355568.4	-	22	2257	c.2118C>T	c.(2116-2118)atC>atT	p.I706I		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	706							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ATCACATCAGGATGAGCACTG	0.483000													28	108					0	0	0.007291	0	0
IGHG1	3500	broad.mit.edu	37	14	106208682	106208682	+	RNA	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:106208682G>A	ENST00000390548.2	-	0	335																											GCTTACCTGGGCACGGTGGGC	0.607000													58	110					0	0	0.014410	0	0
CYP19A1	1588	broad.mit.edu	37	15	51507964	51507964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:51507964C>T	ENST00000396402.1	-	7	947	c.794G>A	c.(793-795)aGg>aAg	p.R265K	CYP19A1_ENST00000396404.4_Missense_Mutation_p.R265K|CYP19A1_ENST00000260433.2_Missense_Mutation_p.R265K|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.R265K	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	265					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TGTGGAAATCCTGCGTCTTTT	0.373000													44	78					0	0	0.014410	0	0
GPR114	221188	broad.mit.edu	37	16	57597802	57597802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:57597802C>T	ENST00000340339.4	+	5	863	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	GPR114_ENST00000349457.3_Missense_Mutation_p.P114S|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	114					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CATGCAGTTCCCCGCCGAGCT	0.617000													28	21					0	0	0.005443	0	0
SELL	6402	broad.mit.edu	37	1	169677600	169677600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:169677600C>T	ENST00000236147.4	-	3	629	c.469G>A	c.(469-471)Gat>Aat	p.D157N	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	144	EGF-like.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					CAGGCGTCATCGTTCCATTTG	0.512000													42	54					0	0	0.007835	0	0
ITGB7	3695	broad.mit.edu	37	12	53589216	53589216	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:53589216A>G	ENST00000267082.5	-	9	1334	c.1103T>C	c.(1102-1104)gTt>gCt	p.V368A	ITGB7_ENST00000338737.4_Missense_Mutation_p.V368A|ITGB7_ENST00000550743.2_Missense_Mutation_p.V368A|ITGB7_ENST00000422257.3_Missense_Mutation_p.V368A	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	368	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGCTCCCCAACTGCAGACTT	0.537000													23	42					0	0	0.004656	0	0
AADAC	13	broad.mit.edu	37	3	151545890	151545890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:151545890C>T	ENST00000232892.6	+	5	1256	c.1130C>T	c.(1129-1131)tCa>tTa	p.S377L	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	377					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGAGCATTTTCATTTCTGGGA	0.363000													31	63					0	0	0.010818	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725270	106725270	+	RNA	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:106725270G>A	ENST00000390609.2	-	0	360																											GCGTGTTCTTGGAATTGTCTC	0.532000													87	478					0	0	0.014410	0	0
TRIM16	10626	broad.mit.edu	37	17	15532010	15532010	+	Silent	SNP	C	C	T	rs148415865		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:15532010C>T	ENST00000578237.1	-	11	2469	c.1614G>A	c.(1612-1614)aaG>aaA	p.K538K	TRIM16_ENST00000577886.1_Silent_p.K322K|TRIM16_ENST00000416464.2_Silent_p.K408K|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000336708.7_Silent_p.K538K|TRIM16_ENST00000579219.1_3'UTR					tripartite motif containing 16											breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CGTTTTCCTTCTTGGAAAGCC	0.512000													22	33					0	0	0.003954	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911449	100911449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:100911449G>A	ENST00000328766.5	-	5	1579	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S	ARMCX2_ENST00000356824.4_Missense_Mutation_p.P376S|ARMCX2_ENST00000330154.2_Missense_Mutation_p.P376S	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	376						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						ATTTCATAAGGAAAGGGGCGC	0.532000													49	70					0	0	0.014410	0	0
LILRA1	11024	broad.mit.edu	37	19	55107260	55107260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:55107260C>T	ENST00000251372.3	+	6	1000	c.818C>T	c.(817-819)cCc>cTc	p.P273L	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	273	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGCCCACAGCCCCAGGCTGGG	0.602000													43	58					0	0	0.013114	0	0
PDE1A	5136	broad.mit.edu	37	2	183099206	183099206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:183099206G>A	ENST00000435564.1	-	4	618	c.418C>T	c.(418-420)Cat>Tat	p.H140Y	PDE1A_ENST00000456212.1_Missense_Mutation_p.H140Y|PDE1A_ENST00000410103.1_Missense_Mutation_p.H140Y|PDE1A_ENST00000409365.1_Missense_Mutation_p.H124Y|PDE1A_ENST00000536095.1_Missense_Mutation_p.H36Y|PDE1A_ENST00000351439.5_Missense_Mutation_p.H124Y|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Missense_Mutation_p.H106Y|PDE1A_ENST00000358139.2_Missense_Mutation_p.H140Y|PDE1A_ENST00000331935.6_Missense_Mutation_p.H140Y	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	140					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CCAACCATATGATATGTTTTT	0.264000													27	27					0	0	0.009535	0	0
NUP188	23511	broad.mit.edu	37	9	131742985	131742985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:131742985G>A	ENST00000372577.2	+	14	1391	c.1370G>A	c.(1369-1371)gGg>gAg	p.G457E		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	457					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CTGGTATCAGGGAAGTCCACA	0.463000													31	19					0	0	0.004289	0	0
PCDH20	64881	broad.mit.edu	37	13	61986627	61986627	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:61986627G>A	ENST00000409186.1	-	5	3710	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	PCDH20_ENST00000409204.4_Silent_p.F535F			Q8N6Y1	PCD20_HUMAN	protocadherin 20	508	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGGGTTGAAGGAAAATTGGAG	0.428000													125	113					0	0	0.014410	0	0
RYR1	6261	broad.mit.edu	37	19	39051805	39051805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:39051805C>T	ENST00000355481.4	+	89	12451	c.12320C>T	c.(12319-12321)tCg>tTg	p.S4107L	RYR1_ENST00000359596.3_Missense_Mutation_p.S4112L|RYR1_ENST00000360985.3_Missense_Mutation_p.S4107L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4112					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTCCTGCTTTCGTGCTCCGAA	0.597000													19	35					0	0	0.008871	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756440	49756440	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:49756440G>A	ENST00000535833.1	-	10	3909	c.459C>T	c.(457-459)ttC>ttT	p.F153F	RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Silent_p.F153F|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	153					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAGGCCGTGGAAGGCATGCT	0.647000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	86					0	0	0.014410	0	0
POLD3	10714	broad.mit.edu	37	11	74303707	74303707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:74303707G>A	ENST00000263681.2	+	1	133	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	POLD3_ENST00000532497.1_5'UTR|POLD3_ENST00000527458.1_5'UTR|POLD3_ENST00000532784.1_3'UTR	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	2					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CCGCACCATGGCGGACCAGCT	0.622000													9	10					0	0	0.006214	0	0
PER3	8863	broad.mit.edu	37	1	7844970	7844970	+	Silent	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:7844970A>G	ENST00000377532.3	+	1	257	c.33A>G	c.(31-33)agA>agG	p.R11R	PER3_ENST00000361923.2_Silent_p.R11R|PER3_ENST00000377541.1_Silent_p.R11R			P56645	PER3_HUMAN	period circadian clock 3	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCGGGAGACGGGGGGCTA	0.687000													9	3					0	0	0.004482	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148679167	148679167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:148679167G>A	ENST00000296721.4	+	2	210	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.A38T|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	38							protein binding	p.A38P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGCCGTGGCCTCCATCCT	0.612000													18	38					0	0	0.010504	0	0
TP63	8626	broad.mit.edu	37	3	189608669	189608669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:189608669G>A	ENST00000264731.3	+	13	1833	c.1744G>A	c.(1744-1746)Gat>Aat	p.D582N	TP63_ENST00000392460.3_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000382063.4_Missense_Mutation_p.D497N|TP63_ENST00000456148.1_Missense_Mutation_p.D484N|TP63_ENST00000354600.5_Missense_Mutation_p.D488N|TP63_ENST00000392461.3_Intron|TP63_ENST00000449992.1_Missense_Mutation_p.D403N|TP63_ENST00000440651.2_Missense_Mutation_p.D578N|TP63_ENST00000320472.5_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	582	SAM.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTACTCCATGGATGTAAGTAA	0.408000										HNSCC(45;0.13)			20	31					0	0	0.010504	0	0
SERPINA3	12	broad.mit.edu	37	14	95080882	95080882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:95080882C>T	ENST00000553947.1	+	5	1067	c.179C>T	c.(178-180)aCc>aTc	p.T60I	SERPINA3_ENST00000393080.4_Missense_Mutation_p.T35I|SERPINA3_ENST00000467132.1_Missense_Mutation_p.T35I|SERPINA3_ENST00000393078.3_Missense_Mutation_p.T35I|SERPINA3_ENST00000556388.1_Intron			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	35					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GAGAATCTGACCCAGGAGAAC	0.587000													37	68					0	0	0.005524	0	0
SNHG14	104472715	broad.mit.edu	37	15	25490655	25490655	+	RNA	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:25490655G>A	ENST00000453082.2	+	0	2719				SNORD115-41_ENST00000363608.1_RNA	NR_003343.1																						CTATTGTCCTGAAGAGAGGTG	0.502000													111	237					0	0	0.014410	0	0
DGKQ	1609	broad.mit.edu	37	4	960963	960963	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:960963G>A	ENST00000273814.3	-	9	1247	c.1174C>T	c.(1174-1176)Ctg>Ttg	p.L392L	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	392					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCCGCGGCAGAGCCCGGATG	0.716000													4	11					0	0	0.000602	0	0
BCL9L	283149	broad.mit.edu	37	11	118773103	118773103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:118773103G>A	ENST00000334801.3	-	6	2313	c.1349C>T	c.(1348-1350)cCc>cTc	p.P450L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	450	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTGCTGGGGGGGAGGGGGGGC	0.672000													21	23					0	0	0.008871	0	0
OR6M1	390261	broad.mit.edu	37	11	123676701	123676701	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:123676701G>A	ENST00000309154.2	-	1	394	c.357C>T	c.(355-357)gaC>gaT	p.D119D		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CCATGTAGCGGTCAAAGGACA	0.507000													21	33					0	0	0.008871	0	0
KCNU1	157855	broad.mit.edu	37	8	36642033	36642033	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:36642033C>T	ENST00000399881.3	+	1	142	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	35						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTGTGACCTTCTTCAGTGGAC	0.418000													25	38					0	0	0.003954	0	0
CDH2	1000	broad.mit.edu	37	18	25570188	25570188	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:25570188C>A	ENST00000269141.3	-	10	1894	c.1471G>T	c.(1471-1473)Gta>Tta	p.V491L	CDH2_ENST00000399380.3_Missense_Mutation_p.V460L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	491	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.V491I(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTTCATTTACGTCAATAACT	0.468000													35	67					1.66425e-11	1.70644e-11	0.004878	1	0
KCTD11	147040	broad.mit.edu	37	17	7256760	7256760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:7256760C>T	ENST00000333751.3	+	1	1553	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	167					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CGTGGAACTCCCCGAGGTGGA	0.672000													20	32					0	0	0.012319	0	0
OR10T2	128360	broad.mit.edu	37	1	158368890	158368890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:158368890G>A	ENST00000334438.1	-	1	366	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GCTACATAGCGATCATATCCC	0.478000													41	97					0	0	0.006999	0	0
NOS1	4842	broad.mit.edu	37	12	117696847	117696847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:117696847G>A	ENST00000317775.6	-	15	3141	c.2456C>T	c.(2455-2457)cCc>cTc	p.P819L	NOS1_ENST00000338101.4_Missense_Mutation_p.P819L|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	819	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATTCTCAGGGGGATCTCCATT	0.502000													23	43					0	0	0.003330	0	0
SLX4IP	128710	broad.mit.edu	37	20	10602039	10602039	+	Silent	SNP	C	C	T	rs148003716	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:10602039C>T	ENST00000334534.5	+	7	663	c.483C>T	c.(481-483)ctC>ctT	p.L161L		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		GTGCAAAGCTCCGGAGAAATG	0.403000													13	36					0	0	0.002450	0	0
SYNPO2	171024	broad.mit.edu	37	4	119979074	119979074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:119979074G>A	ENST00000307142.4	+	5	3967	c.3771G>A	c.(3769-3771)tgG>tgA	p.W1257*	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAAGGGGATGGAGACGCCAAA	0.393000													35	49					0	0	0.004289	0	0
PRR5L	79899	broad.mit.edu	37	11	36484219	36484219	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:36484219A>G	ENST00000378867.3	+	10	1395	c.1040A>G	c.(1039-1041)gAc>gGc	p.D347G	PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Missense_Mutation_p.D347G|PRR5L_ENST00000311599.5_Missense_Mutation_p.D274G	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	347										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GACAACCCTGACGGACTGGAG	0.652000													13	35					0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9056299	9056299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:9056299C>T	ENST00000397910.4	-	3	31350	c.31147G>A	c.(31147-31149)Gac>Aac	p.D10383N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10385	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGAAGTGTCCAAAGTACTG	0.478000													45	96					0	0	0.014410	0	0
SUMF2	25870	broad.mit.edu	37	7	56140715	56140715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:56140715C>T	ENST00000434526.2	+	3	338	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	SUMF2_ENST00000395436.2_Missense_Mutation_p.R103W|SUMF2_ENST00000395435.2_Missense_Mutation_p.R103W|SUMF2_ENST00000275607.9_5'UTR|SUMF2_ENST00000413756.1_Missense_Mutation_p.R84W|SUMF2_ENST00000342190.6_Missense_Mutation_p.R103W|SUMF2_ENST00000437307.2_Missense_Mutation_p.R84W	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	84						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAAAAAGTATCGGACAGAAGC	0.478000													18	64					0	0	0.008871	0	0
ESR2	2100	broad.mit.edu	37	14	64727429	64727429	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:64727429C>T	ENST00000557772.1	-	4	689	c.690G>A	c.(688-690)cgG>cgA	p.R230R	ESR2_ENST00000341099.4_Silent_p.R230R|ESR2_ENST00000554572.1_Silent_p.R230R|ESR2_ENST00000542956.1_Silent_p.R230R|ESR2_ENST00000553796.1_Silent_p.R230R|ESR2_ENST00000267525.6_Silent_p.R230R|ESR2_ENST00000358599.5_Silent_p.R230R|ESR2_ENST00000357782.2_Silent_p.R230R|ESR2_ENST00000353772.3_Silent_p.R230R|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000555278.1_Silent_p.R230R	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	230	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TTCTCTGTCTCCGCACAAGGC	0.612000													19	36					0	0	0.014323	0	0
FGF11	2256	broad.mit.edu	37	17	7345942	7345942	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:7345942G>A	ENST00000575331.1	+	3	2210	c.66G>A	c.(64-66)aaG>aaA	p.K22K	RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575235.1_Silent_p.K22K|FGF11_ENST00000575398.1_Silent_p.K22K|FGF11_ENST00000575082.1_Silent_p.K22K|FGF11_ENST00000572907.1_Silent_p.K22K|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000293829.4_Silent_p.K146K			Q92914	FGF11_HUMAN	fibroblast growth factor 11	146					cell-cell signaling|nervous system development|signal transduction		growth factor activity			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				GTCGCTTTAAGGAGTGTGTCT	0.542000													71	149					0	0	0.014410	0	0
SGSM2	9905	broad.mit.edu	37	17	2274703	2274703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:2274703C>T	ENST00000268989.3	+	13	1748	c.1571C>T	c.(1570-1572)cCc>cTc	p.P524L	SGSM2_ENST00000574563.1_Missense_Mutation_p.P479L|SGSM2_ENST00000426855.2_Missense_Mutation_p.P479L	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	479						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGCTGCATCCCCGACCGGTGA	0.662000													28	38					0	0	0.010818	0	0
PSG7	5676	broad.mit.edu	37	19	43430025	43430025	+	RNA	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:43430025G>A	ENST00000446844.3	-	0	1232				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TAATCTGGGGGATAGAAAGCT	0.473000													96	204					0	0	0.014410	0	0
PCED1B	91523	broad.mit.edu	37	12	47629950	47629950	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:47629950C>T	ENST00000546455.1	+	4	1835	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	PCED1B_ENST00000432328.1_Silent_p.F368F					PC-esterase domain containing 1B									p.F368F(1)									CAGGTTTCTTCGTCGAAGACA	0.522000													59	83					0	0	0.014410	0	0
SYT8	90019	broad.mit.edu	37	11	1858497	1858497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:1858497G>A	ENST00000341958.3	+	8	1302	c.1000G>A	c.(1000-1002)Ggt>Agt	p.G334S	SYT8_ENST00000381968.3_Missense_Mutation_p.G348S|SYT8_ENST00000535046.1_3'UTR			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	348	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGTGCACCTGGGTGCCCGGGC	0.711000													12	15					0	0	0.010729	0	0
DRP2	1821	broad.mit.edu	37	X	100503576	100503576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:100503576G>A	ENST00000395209.3	+	14	2055	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	DRP2_ENST00000541709.1_Missense_Mutation_p.E432K|DRP2_ENST00000538510.1_Missense_Mutation_p.E510K|DRP2_ENST00000402866.1_Missense_Mutation_p.E510K	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	510					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGAAGTGAAGGAAAAACTTCA	0.468000													104	184					0	0	0.014410	0	0
ZNF630	57232	broad.mit.edu	37	X	47918541	47918541	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:47918541G>A	ENST00000276054.4	-	5	1852	c.918C>T	c.(916-918)ccC>ccT	p.P306P	ZNF630_ENST00000409324.3_Silent_p.P430P|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Silent_p.P416P			Q2M218	ZN630_HUMAN	zinc finger protein 630	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CACACTTATAGGGCTTCTCTC	0.433000													15	12					0	0	0.004007	0	0
UAP1	6675	broad.mit.edu	37	1	162567610	162567610	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:162567610C>T	ENST00000271469.3	+	10	1740	c.1438C>T	c.(1438-1440)Caa>Taa	p.Q480*	UAP1_ENST00000367926.4_Nonsense_Mutation_p.Q463*|UAP1_ENST00000367925.1_Nonsense_Mutation_p.Q480*|UAP1_ENST00000367924.1_Nonsense_Mutation_p.Q479*|UAP1_ENST00000486089.1_3'UTR			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	480					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGTACCAATCCAATGTGAAAT	0.343000													39	91					0	0	0.010771	0	0
USP25	29761	broad.mit.edu	37	21	17196463	17196463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:17196463C>T	ENST00000285681.2	+	11	1555	c.1186C>T	c.(1186-1188)Ccc>Tcc	p.P396S	USP25_ENST00000285679.6_Missense_Mutation_p.P396S|USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.P396S			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	396					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		ATTAGAATTTCCCCAAGTTTT	0.318000													14	27					0	0	0.002450	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030640	10030640	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:10030640G>T	ENST00000378380.3	+	6	1752	c.1423G>T	c.(1423-1425)Gaa>Taa	p.E475*	ANKEF1_ENST00000378392.1_Nonsense_Mutation_p.E475*|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		TCATCCCCCAGAACATCCCAT	0.453000													66	83					2.32817e-41	2.41612e-41	0.014410	1	0
MKS1	54903	broad.mit.edu	37	17	56288020	56288020	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:56288020G>A	ENST00000393119.2	-	11	1098	c.1024_splice	c.e11+1	p.H342_splice	MKS1_ENST00000537529.2_Splice_Site_p.H332_splice|MKS1_ENST00000337050.7_Splice_Site_p.H342_splice|MKS1_ENST00000546108.1_Splice_Site_p.H139_splice|MKS1_ENST00000313863.6_Splice_Site_p.H342_splice	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	342	B9.				cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TATTACTTACGAGCAGTTGGC	0.408000													32	51					0	0	0.012213	0	0
B4GALNT4	338707	broad.mit.edu	37	11	372901	372901	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:372901C>T	ENST00000329962.6	+	4	398	c.398C>T	c.(397-399)gCc>gTc	p.A133V		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	133						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGGGGGCGCCGTGGGCCAC	0.706000													9	27					0	0	0.006214	0	0
ABCB11	8647	broad.mit.edu	37	2	169826677	169826677	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:169826677G>A	ENST00000263817.6	-	15	1811	c.1687C>T	c.(1687-1689)Cag>Tag	p.Q563*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	563	ABC transporter 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTTTGTTTCTGGCCACCACTC	0.498000													19	10					0	0	0.007413	0	0
CCAR1	55749	broad.mit.edu	37	10	70547713	70547713	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:70547713C>T	ENST00000265872.6	+	22	3029	c.2910C>T	c.(2908-2910)ctC>ctT	p.L970L	CCAR1_ENST00000535016.1_Silent_p.L955L|CCAR1_ENST00000543719.1_Silent_p.L955L	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	970					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AAGTAGTGCTCCGTGAATCTT	0.353000													18	11					0	0	0.006122	0	0
KCND2	3751	broad.mit.edu	37	7	119915728	119915728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:119915728G>A	ENST00000331113.4	+	1	2007	c.1042G>A	c.(1042-1044)Ggg>Agg	p.G348R		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	348					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CGCAGAGAAGGGGTCTTCGGC	0.493000													45	105					0	0	0.013114	0	0
ZZEF1	23140	broad.mit.edu	37	17	3920857	3920857	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:3920857G>A	ENST00000381638.2	-	48	7933	c.7809C>T	c.(7807-7809)gtC>gtT	p.V2603V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2603							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGTAGTCCCGGACAGCCCTCT	0.627000													26	35					0	0	0.004656	0	0
CNIH4	29097	broad.mit.edu	37	1	224553590	224553590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:224553590C>T	ENST00000465271.1	+	3	223	c.148C>T	c.(148-150)Cca>Tca	p.P50S	CNIH4_ENST00000468318.1_3'UTR|CNIH4_ENST00000366858.3_Missense_Mutation_p.P50S|CNIH4_ENST00000366856.3_Missense_Mutation_p.P50S|CNIH4_ENST00000366857.5_Missense_Mutation_p.P50S	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	50					intracellular signal transduction	endoplasmic reticulum|integral to membrane	protein binding			kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		GTGGGTAATTCCAGAATTGAT	0.388000													59	101					0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13771003	13771003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:13771003C>T	ENST00000265104.4	-	56	9564	c.9460G>A	c.(9460-9462)Gat>Aat	p.D3154N	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3154	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCACCCCATCCTGGAAGGAG	0.448000									Kartagener syndrome				24	61					0	0	0.002780	0	0
WDR6	11180	broad.mit.edu	37	3	49049835	49049835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:49049835C>T	ENST00000395474.3	+	2	1238	c.958C>T	c.(958-960)Ctc>Ttc	p.L320F	WDR6_ENST00000448293.1_Missense_Mutation_p.L239F|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_3'UTR	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	290					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		AGGTGAGATCCTCCAGGCCTT	0.587000													27	44					0	0	0.006320	0	0
ATP1A2	477	broad.mit.edu	37	1	160106050	160106050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:160106050C>T	ENST00000361216.3	+	18	2542	c.2453C>T	c.(2452-2454)tCc>tTc	p.S818F	ATP1A2_ENST00000392233.3_Missense_Mutation_p.S818F|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	818					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCTGCCATCTCCTTGGCCTAT	0.547000													27	65					0	0	0.005443	0	0
MYH15	22989	broad.mit.edu	37	3	108135721	108135721	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:108135721C>T	ENST00000273353.3	-	30	4002	c.3946G>A	c.(3946-3948)Gaa>Aaa	p.E1316K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1316						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTGCTCTTTTCCCTGGAAAGT	0.418000													42	58					0	0	0.007835	0	0
VMAC	400673	broad.mit.edu	37	19	5908851	5908851	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:5908851C>T	ENST00000339485.3	+	2	241	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	AC104532.2_ENST00000588891.1_Intron	NM_001017921.3	NP_001017921.1	Q2NL98	VMAC_HUMAN	vimentin-type intermediate filament associated coiled-coil protein	70						cytoplasm				lung(1)	1						TGCCACACTCCAGGAGCAGCT	0.607000													21	40					0	0	0.002780	0	0
GPR112	139378	broad.mit.edu	37	X	135480089	135480089	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:135480089T>G	ENST00000394143.1	+	20	8525	c.8234T>G	c.(8233-8235)cTt>cGt	p.L2745R	GPR112_ENST00000412101.1_Missense_Mutation_p.L2540R|GPR112_ENST00000370652.1_Missense_Mutation_p.L2745R|GPR112_ENST00000394141.1_Missense_Mutation_p.L2540R|GPR112_ENST00000287534.4_Missense_Mutation_p.L2498R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2745					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATATTAGCGCTTATAACATAC	0.408000													40	98					0	0	0.014410	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761935	92761935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:92761935G>A	ENST00000318238.4	-	5	4566	c.3350C>T	c.(3349-3351)tCc>tTc	p.S1117F	SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1117F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1117F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1117										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAAATATAGGAATTTTTAGG	0.383000													101	116					0	0	0.014410	0	0
GREB1	9687	broad.mit.edu	37	2	11773139	11773139	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:11773139C>T	ENST00000381486.2	+	28	5241	c.4941C>T	c.(4939-4941)tcC>tcT	p.S1647S	GREB1_ENST00000234142.5_Silent_p.S1647S|GREB1_ENST00000396123.1_Silent_p.S645S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1647						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTGATGACTCCTGCGTGATGT	0.562000													28	60					0	0	0.009535	0	0
ATP1A4	480	broad.mit.edu	37	1	160124954	160124954	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:160124954C>T	ENST00000368081.4	+	3	798	c.327C>T	c.(325-327)tcC>tcT	p.S109S		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	109					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGGCTTCTCCCTCCTACTAT	0.502000													26	28					0	0	0.003954	0	0
RNF169	254225	broad.mit.edu	37	11	74547756	74547756	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:74547756A>G	ENST00000299563.4	+	6	2121	c.2108A>G	c.(2107-2109)aAc>aGc	p.N703S		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	703							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CGGTCCAGCAACATGGCCGGG	0.498000													27	37					0	0	0.005443	0	0
OR51L1	119682	broad.mit.edu	37	11	5020409	5020409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:5020409C>T	ENST00000321543.1	+	1	197	c.197C>T	c.(196-198)tCc>tTc	p.S66F		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S66F(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TACTTTATTTCCATCTTAGCA	0.448000													48	86					0	0	0.014410	0	0
FRMPD3	84443	broad.mit.edu	37	X	106840838	106840838	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:106840838C>T	ENST00000276185.4	+	15	1828	c.1828C>T	c.(1828-1830)Cct>Tct	p.P610S				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	610						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TGAGGTAGTCCCTGATGACTT	0.537000													38	87					0	0	0.005524	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438557	204438557	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:204438557C>T	ENST00000367187.3	-	3	930	c.374G>A	c.(373-375)gGa>gAa	p.G125E	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.G125E	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	125	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAGATAGTCTCCAGACAGGGA	0.567000													18	23					0	0	0.004990	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44811379	44811379	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:44811379C>T	ENST00000260327.4	+	11	1688	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	CTDSPL2_ENST00000396780.1_Silent_p.F303F|CTDSPL2_ENST00000558966.1_Silent_p.F375F|CTDSPL2_ENST00000558373.1_Silent_p.F303F	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	375	FCP1 homology.						phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		ACCGGCTTTTCCGTGAACATT	0.274000													17	25					0	0	0.004007	0	0
ASXL3	80816	broad.mit.edu	37	18	31319227	31319227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:31319227G>A	ENST00000269197.5	+	11	1859	c.1859G>A	c.(1858-1860)gGa>gAa	p.G620E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	620	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGCCCAGAGGGAGCCTGTACC	0.483000													8	18					0	0	0.003080	0	0
WDR72	256764	broad.mit.edu	37	15	53905868	53905868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:53905868C>T	ENST00000396328.1	-	16	3106	c.2867G>A	c.(2866-2868)cGa>cAa	p.R956Q	WDR72_ENST00000360509.5_Missense_Mutation_p.R956Q|WDR72_ENST00000559418.1_Missense_Mutation_p.R966Q|WDR72_ENST00000557913.1_Missense_Mutation_p.R953Q	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	956										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTACCATTTCGTAAGCAACT	0.328000													43	54					0	0	0.010771	0	0
COX7B	1349	broad.mit.edu	37	X	77155057	77155057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:77155057C>T	ENST00000481445.1	+	1	123	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	COX7B_ENST00000475465.1_3'UTR	NM_001866.2	NP_001857.1	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb	3					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(2)	2						CACGATGTTTCCCTTGGTCAA	0.453000													19	27					0	0	0.007413	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69332449	69332449	+	Missense_Mutation	SNP	G	G	A	rs145801188		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:69332449G>A	ENST00000305363.4	+	3	301	c.237G>A	c.(235-237)atG>atA	p.M79I		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	79	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTACAGAAATGAGCCAGAGAC	0.343000													126	248					0	0	0.014410	0	0
SYT1	6857	broad.mit.edu	37	12	79693249	79693249	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:79693249A>G	ENST00000261205.4	+	8	1385	c.728A>G	c.(727-729)gAa>gGa	p.E243G	SYT1_ENST00000552744.1_Missense_Mutation_p.E243G|SYT1_ENST00000393240.3_Missense_Mutation_p.E243G|SYT1_ENST00000457153.2_Missense_Mutation_p.E240G	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	243	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ATCATTGGAGAATTTAAAGTC	0.413000													43	84					0	0	0.009718	0	0
CYP2C9	1559	broad.mit.edu	37	10	96707543	96707543	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:96707543C>T	ENST00000260682.6	+	4	501	c.489C>T	c.(487-489)ccC>ccT	p.P163P		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	163					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TAGCCTCACCCTGTGATCCCA	0.303000													50	36					0	0	0.014410	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597029	136597029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:136597029G>A	ENST00000531224.1	-	5	1886	c.1634C>T	c.(1633-1635)cCt>cTt	p.P545L	BCLAF1_ENST00000353331.4_Missense_Mutation_p.P543L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P372L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P543L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P543L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.P545L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	545					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTTGACTTCAGGACGGTGAGA	0.438000													43	180					0	0	0.008740	0	0
PTPRT	11122	broad.mit.edu	37	20	40733224	40733224	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:40733224G>A	ENST00000373198.3	-	26	3826	c.3591C>T	c.(3589-3591)atC>atT	p.I1197I	PTPRT_ENST00000373193.3_Silent_p.I1178I|PTPRT_ENST00000373201.1_Silent_p.I1165I|PTPRT_ENST00000373187.1_Silent_p.I1175I|PTPRT_ENST00000356100.2_Silent_p.I1184I|PTPRT_ENST00000373190.1_Silent_p.I1174I|PTPRT_ENST00000373184.1_Silent_p.I1185I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1175	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATTCATCTTTGATTTGGCTGG	0.458000													35	63					0	0	0.007835	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458161	45458161	+	RNA	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:45458161G>A	ENST00000548424.1	+	0	448																											CAGTGGTCCCGACATTCTGGA	0.458000													6	14					0	0	0.001168	0	0
IQCA1	79781	broad.mit.edu	37	2	237285763	237285763	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:237285763T>C	ENST00000409907.3	-	13	1818	c.1544A>G	c.(1543-1545)aAc>aGc	p.N515S	IQCA1_ENST00000431676.2_Missense_Mutation_p.N474S|IQCA1_ENST00000309507.5_Missense_Mutation_p.N512S			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	515							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ATCAGAGAGGTTGACTTTCAG	0.448000													34	31					0	0	0.004878	0	0
PTPRB	5787	broad.mit.edu	37	12	70983782	70983782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:70983782C>T	ENST00000334414.6	-	8	2056	c.2012G>A	c.(2011-2013)gGa>gAa	p.G671E	PTPRB_ENST00000538708.1_Missense_Mutation_p.G453E|PTPRB_ENST00000551525.1_Missense_Mutation_p.G670E|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000261266.5_Missense_Mutation_p.G453E|PTPRB_ENST00000550358.1_Missense_Mutation_p.G671E|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Intron	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	453	Fibronectin type-III 8.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTCAAATTTCCACTCTCAAC	0.453000											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	114					0	0	0.014410	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229401	140229401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140229401G>A	ENST00000378122.3	+	1	2045	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M	PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.V441M|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGCCAGGGTGTCTGTGGA	0.662000													47	81					0	0	0.014410	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962795	73962795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:73962795G>A	ENST00000373468.1	-	3	2248	c.1597C>T	c.(1597-1599)Cgt>Tgt	p.R533C	KIAA2022_ENST00000055682.5_Missense_Mutation_p.R533C			Q5QGS0	K2022_HUMAN	KIAA2022	533					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGCTCCTTACGGGTTACTTTT	0.423000													36	37					0	0	0.003755	0	0
BTBD11	121551	broad.mit.edu	37	12	108011078	108011078	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:108011078G>A	ENST00000280758.5	+	9	2624	c.2095_splice	c.e9-1	p.G699_splice	BTBD11_ENST00000357167.4_Splice_Site_p.G236_splice|BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000490090.2_Splice_Site_p.G699_splice|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	699						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGGCTTGCAGGAAATTTTGAG	0.502000													55	118					0	0	0.014410	0	0
TLN2	83660	broad.mit.edu	37	15	63040587	63040587	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:63040587T>A	ENST00000561311.1	+	32	4293	c.4063T>A	c.(4063-4065)Tgt>Agt	p.C1355S	TLN2_ENST00000306829.6_Missense_Mutation_p.C1355S			Q9Y4G6	TLN2_HUMAN	talin 2	1355					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CATCACTCTGTGTACCCAACA	0.478000													48	74					0	0	0.014410	0	0
SULT6B1	391365	broad.mit.edu	37	2	37395083	37395083	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:37395083C>T	ENST00000535679.1	-	7	906	c.907G>A	c.(907-909)Ggt>Agt	p.G303S	SULT6B1_ENST00000379149.2_Missense_Mutation_p.G199S|SULT6B1_ENST00000407963.1_Missense_Mutation_p.G265S|SULT6B1_ENST00000260637.3_Missense_Mutation_p.G265S			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	303						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TGGAATCAACCCTGGCAATAT	0.323000													42	85					0	0	0.014410	0	0
GBP5	115362	broad.mit.edu	37	1	89732744	89732744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:89732744G>A	ENST00000343435.5	-	6	1057	c.521C>T	c.(520-522)cCa>cTa	p.P174L	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.P174L	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	174						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CACTAAGTCTGGGAAGAAGCT	0.488000													49	97					0	0	0.014410	0	0
OR13G1	441933	broad.mit.edu	37	1	247836067	247836067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:247836067C>T	ENST00000359688.2	-	1	298	c.277G>A	c.(277-279)Ggc>Agc	p.G93S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G93S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GACATGCAGCCTGCATATGAA	0.493000													15	20					0	0	0.002450	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41454959	41454959	+	RNA	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:41454959G>A	ENST00000599198.1	+	0	1350					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TGCCCACAGGGAAGCGGATTT	0.572000													10	17					0	0	0.008291	0	0
NLRP5	126206	broad.mit.edu	37	19	56539478	56539478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:56539478C>T	ENST00000390649.3	+	7	1879	c.1879C>T	c.(1879-1881)Cat>Tat	p.H627Y		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	627						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGCAGGCTTCCATATCCACTC	0.552000													34	48					0	0	0.004878	0	0
SYT1	6857	broad.mit.edu	37	12	79679683	79679683	+	Missense_Mutation	SNP	G	G	A	rs138582600		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:79679683G>A	ENST00000261205.4	+	5	940	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	SYT1_ENST00000552744.1_Missense_Mutation_p.E95K|SYT1_ENST00000393240.3_Missense_Mutation_p.E95K|SYT1_ENST00000457153.2_Missense_Mutation_p.E95K	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	95					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.E95K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GAAGGGAAAGGAAAAAGGAGG	0.348000													18	42					0	0	0.006122	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417378	150417378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:150417378C>T	ENST00000307194.5	+	3	426	c.286C>T	c.(286-288)Cct>Tct	p.P96S		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAGACAGATCCTGGCTGTGA	0.647000													13	65					0	0	0.001855	0	0
SGK223	157285	broad.mit.edu	37	8	8185692	8185692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:8185692C>T	ENST00000520004.1	-	5	2864	c.2600G>A	c.(2599-2601)gGg>gAg	p.G867E	SGK223_ENST00000330777.4_Missense_Mutation_p.G867E			Q86YV5	SG223_HUMAN		867							ATP binding|non-membrane spanning protein tyrosine kinase activity										GTGGCGGTTCCCGGGGCTCAA	0.592000													89	230					0	0	0.014410	0	0
ZNF536	9745	broad.mit.edu	37	19	30936114	30936114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:30936114G>A	ENST00000355537.3	+	2	1792	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGCAACCACGAAGACACTTT	0.552000													47	76					0	0	0.014410	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687287	8687287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:8687287G>A	ENST00000299663.3	-	6	772	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	CLEC4E_ENST00000545274.1_Missense_Mutation_p.R158W|CLEC4E_ENST00000446457.2_3'UTR	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	203	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TCACAAATCCGAAAATAATTG	0.398000													34	39					0	0	0.012213	0	0
USH2A	7399	broad.mit.edu	37	1	216371810	216371810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:216371810C>T	ENST00000366943.2	-	18	4314	c.3928G>A	c.(3928-3930)Gaa>Aaa	p.E1310K	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.E1310K|USH2A_ENST00000307340.3_Missense_Mutation_p.E1310K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1310	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGGCCGATTCTACAAATGAA	0.413000										HNSCC(13;0.011)			44	77					0	0	0.011902	0	0
NUP88	4927	broad.mit.edu	37	17	5308443	5308443	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:5308443G>A	ENST00000573584.1	-	6	1487	c.978C>T	c.(976-978)atC>atT	p.I326I		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	326					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						ATTCAGTAGCGATCACTAAGA	0.483000													16	27					0	0	0.004007	0	0
B4GALT3	8703	broad.mit.edu	37	1	161145604	161145604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:161145604G>A	ENST00000319769.5	-	3	469	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F	B4GALT3_ENST00000367998.1_Missense_Mutation_p.L83F|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	83					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	TTACCTAAGAGAGGAGATCGT	0.582000													86	137					0	0	0.014410	0	0
DTD1	92675	broad.mit.edu	37	20	18724816	18724816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:18724816G>A	ENST00000377452.3	+	5	730	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K		NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	184					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			large_intestine(4)|lung(1)|ovary(2)	7						ATCAAGCAAGGAAAGAAACAC	0.483000													15	24					0	0	0.003163	0	0
NUTM2D	728130	broad.mit.edu	37	10	89118113	89118113	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:89118113C>T	ENST00000412718.1	+	1	637	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	NUTM2D_ENST00000381697.2_Missense_Mutation_p.L31F					NUT family member 2D																		GGGTCTTACCCTTGGCTTTTC	0.517000													47	116					0	0	0.014410	0	0
SGCZ	137868	broad.mit.edu	37	8	14095106	14095106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:14095106G>A	ENST00000382080.1	-	4	1134	c.419C>T	c.(418-420)aCc>aTc	p.T140I	SGCZ_ENST00000421524.2_Missense_Mutation_p.T93I	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	127					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CTCACCTATGGTCAGCTGTCC	0.418000													200	297					0	0	0.014410	0	0
GSE1	23199	broad.mit.edu	37	16	85667574	85667574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:85667574G>A	ENST00000253458.7	+	2	238	c.62G>A	c.(61-63)aGg>aAg	p.R21K	GSE1_ENST00000393243.1_Intron|GSE1_ENST00000405402.2_Intron	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		ACCGCGACCAGGACCACCGCC	0.672000													16	21					0	0	0.004990	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198492547	198492547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:198492547G>A	ENST00000367381.1	-	5	454	c.349C>T	c.(349-351)Cat>Tat	p.H117Y	ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.H111Y|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.H117Y|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.H111Y|ATP6V1G3_ENST00000309309.7_3'UTR			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	111					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TAGTTCACATGGATTTCTGGT	0.388000													4	17					0	0	0.009096	0	0
GPD1L	23171	broad.mit.edu	37	3	32207311	32207311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:32207311C>T	ENST00000282541.5	+	8	1166	c.965C>T	c.(964-966)cCa>cTa	p.P322L		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	322					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity			large_intestine(4)|lung(7)|ovary(1)	12						ACTAGGTTTCCATTGTTTACT	0.408000													17	34					0	0	0.008871	0	0
CYFIP2	26999	broad.mit.edu	37	5	156786096	156786096	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:156786096C>T	ENST00000442283.2	+	26	2890	c.608C>T	c.(607-609)tCc>tTc	p.S203F	CYFIP2_ENST00000347377.6_Silent_p.L919L|CYFIP2_ENST00000377576.3_Silent_p.L919L|CYFIP2_ENST00000521420.1_Silent_p.L893L|CYFIP2_ENST00000318218.6_Silent_p.L944L|CYFIP2_ENST00000541131.1_Silent_p.L844L|CYFIP2_ENST00000435847.2_Silent_p.L618L|CYFIP2_ENST00000522463.1_Silent_p.L723L	NM_001037333.1	NP_001032410.1	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	0					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTGCAGACTCCTGGGTTATC	0.498000													79	147					0	0	0.014410	0	0
EPPK1	83481	broad.mit.edu	37	8	144942030	144942030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:144942030C>T	ENST00000525985.1	-	2	5463	c.5392G>A	c.(5392-5394)Gac>Aac	p.D1798N				P58107	EPIPL_HUMAN	epiplakin 1	1798						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GACAGCAGGTCCCAGAAAGAG	0.532000													24	55					0	0	0.003330	0	0
SEC23B	10483	broad.mit.edu	37	20	18505092	18505092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:18505092C>T	ENST00000336714.3	+	5	814	c.382C>T	c.(382-384)Cct>Tct	p.P128S	SEC23B_ENST00000377465.1_Missense_Mutation_p.P128S|SEC23B_ENST00000377475.3_Missense_Mutation_p.P128S|SEC23B_ENST00000262544.2_Missense_Mutation_p.P128S	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	128					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TGCTCAGTCCCCTCTGATCTT	0.428000													44	88					0	0	0.014410	0	0
BTBD11	121551	broad.mit.edu	37	12	108008853	108008853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:108008853C>T	ENST00000280758.5	+	7	2443	c.1915C>T	c.(1915-1917)Cat>Tat	p.H639Y	BTBD11_ENST00000357167.4_Missense_Mutation_p.H176Y|BTBD11_ENST00000420571.2_Missense_Mutation_p.H639Y|BTBD11_ENST00000490090.2_Missense_Mutation_p.H639Y|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	639						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAGTACTCCTCATAAATATCC	0.418000													26	35					0	0	0.005443	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24884069	24884069	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:24884069G>A	ENST00000396432.2	-	20	4249	c.3763C>T	c.(3763-3765)Cgt>Tgt	p.R1255C	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R1042C	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1254	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTTTTCAGACGATCTAGAGGA	0.303000													26	34					0	0	0.005443	0	0
PTPRC	5788	broad.mit.edu	37	1	198668772	198668772	+	Silent	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:198668772A>G	ENST00000367376.2	+	5	543	c.372A>G	c.(370-372)acA>acG	p.T124T	PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Silent_p.T124T|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Silent_p.T126T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	124					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ACACGCAGACATTCAGCGGCT	0.527000											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	102					0	0	0.014410	0	0
MTSS1	9788	broad.mit.edu	37	8	125568002	125568002	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:125568002C>T	ENST00000518547.1	-	13	2021	c.1548G>A	c.(1546-1548)gaG>gaA	p.E516E	MTSS1_ENST00000354184.4_Silent_p.E234E|MTSS1_ENST00000325064.5_Silent_p.E520E|MTSS1_ENST00000524090.1_Silent_p.E406E|MTSS1_ENST00000395508.2_Silent_p.E290E|MTSS1_ENST00000378017.3_Silent_p.E491E|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000431961.2_Silent_p.E234E	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	516					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGATGGTGTCCTCAGAGCAGC	0.597000													5	12					0	0	0.001168	0	0
TNFRSF8	943	broad.mit.edu	37	1	12157167	12157167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:12157167C>T	ENST00000263932.2	+	3	383	c.161C>T	c.(160-162)cCg>cTg	p.P54L	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	54					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCTGTTCCCGACACAGCAG	0.577000													22	16					0	0	0.012319	0	0
AGMO	392636	broad.mit.edu	37	7	15427080	15427080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:15427080C>T	ENST00000342526.3	-	9	1077	c.908G>A	c.(907-909)gGa>gAa	p.G303E		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	303					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TGGACCCCATCCCGGTCCCTT	0.393000													46	139					0	0	0.013114	0	0
DNAH5	1767	broad.mit.edu	37	5	13901505	13901505	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:13901505C>T	ENST00000265104.4	-	14	2012	c.1908G>A	c.(1906-1908)agG>agA	p.R636R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	636	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTGCTGAATCCTATGGAAGA	0.517000									Kartagener syndrome				16	24					0	0	0.007413	0	0
ANO2	57101	broad.mit.edu	37	12	6030214	6030214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:6030214C>T	ENST00000356134.5	-	3	585	c.514G>A	c.(514-516)Gac>Aac	p.D172N	ANO2_ENST00000327087.8_Missense_Mutation_p.D172N|ANO2_ENST00000546188.1_Missense_Mutation_p.D172N	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	176						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACCTCCAAGTCCTTCTCAAGC	0.597000													21	41					0	0	0.002780	0	0
CGB	1082	broad.mit.edu	37	19	49526155	49526155	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:49526155G>A	ENST00000357383.4	-	3	847	c.486C>T	c.(484-486)atC>atT	p.I162I		NM_000737.3	NP_000728.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide	162					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			large_intestine(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	ATTGTGGGAGGATCGGGGTGT	0.607000													31	18					0	0	0.005524	0	0
POLG	5428	broad.mit.edu	37	15	89873448	89873448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:89873448G>A	ENST00000268124.5	-	3	1052	c.719C>T	c.(718-720)tCg>tTg	p.S240L	POLG_ENST00000442287.2_Missense_Mutation_p.S240L	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	240					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GTCAGCCGGCGACAGCTGGCT	0.607000								DNA polymerases (catalytic subunits)					44	26					0	0	0.013114	0	0
PPFIA2	8499	broad.mit.edu	37	12	81768449	81768449	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:81768449C>T	ENST00000550584.2	-	10	1525	c.1230G>A	c.(1228-1230)gaG>gaA	p.E410E	PPFIA2_ENST00000407050.4_Silent_p.E336E|PPFIA2_ENST00000548586.1_Silent_p.E410E|PPFIA2_ENST00000552948.1_Silent_p.E410E|PPFIA2_ENST00000550359.2_Silent_p.E257E|PPFIA2_ENST00000443686.3_Silent_p.E311E|PPFIA2_ENST00000333447.7_Silent_p.E392E|PPFIA2_ENST00000549325.1_Silent_p.E392E|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Silent_p.E410E	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	336										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCAGTTCAGCCTCTACTTCAG	0.428000													29	60					0	0	0.006320	0	0
OR10H5	284433	broad.mit.edu	37	19	15905657	15905657	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:15905657C>A	ENST00000308940.8	+	1	897	c.799C>A	c.(799-801)Cag>Aag	p.Q267K		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CAAAGGTCCCCAGTCTCCGGA	0.567000													33	43					1.06801e-11	1.09586e-11	0.009535	1	0
CATSPERB	79820	broad.mit.edu	37	14	92126200	92126200	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:92126200C>T	ENST00000256343.3	-	15	1569	c.1413G>A	c.(1411-1413)aaG>aaA	p.K471K		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	471					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TCGAGTAAACCTTTCCACGTT	0.338000													18	58					0	0	0.010504	0	0
MYSM1	114803	broad.mit.edu	37	1	59147533	59147533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:59147533G>A	ENST00000472487.1	-	8	1222	c.1183C>T	c.(1183-1185)Cct>Tct	p.P395S	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	395	SWIRM.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					AAAAACTCAGGAATTGCTTGT	0.338000													29	37					0	0	0.006320	0	0
CEP164	22897	broad.mit.edu	37	11	117209318	117209318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:117209318C>T	ENST00000278935.3	+	3	163	c.16C>T	c.(16-18)Ctc>Ttc	p.L6F		NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	6	Interaction with ATRIP.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGGACGACCCCTCCGCATAGG	0.488000													31	71					0	0	0.010818	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42858895	42858895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:42858895G>A	ENST00000455697.1	-	7	1226	c.941C>T	c.(940-942)gCc>gTc	p.A314V	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.A314V|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.A314V|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.A314V|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.A314V	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	314					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AGAATCAGAGGCATGGACGTC	0.507000													27	61					0	0	0.003954	0	0
SYNJ1	8867	broad.mit.edu	37	21	34099161	34099161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:34099161G>A	ENST00000382499.2	-	2	162	c.163C>T	c.(163-165)Cca>Tca	p.P55S	SYNJ1_ENST00000433931.2_Missense_Mutation_p.P55S|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P16S|SYNJ1_ENST00000357345.3_Missense_Mutation_p.P16S|SYNJ1_ENST00000382491.3_Missense_Mutation_p.P16S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	16							inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.P16T(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTGAAAGGTGGGGGATCCAAT	0.483000													37	68					0	0	0.003755	0	0
UBE2S	27338	broad.mit.edu	37	19	55913083	55913083	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:55913083G>A	ENST00000264552.9	-	4	577	c.390C>T	c.(388-390)aaC>aaT	p.N130N	UBE2S_ENST00000589978.1_3'UTR|RPL28_ENST00000560055.1_Intron	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	130					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		CCGCCTCCTCGTTGAGTGCAG	0.667000													18	16					0	0	0.008871	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995273	140995273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:140995273C>T	ENST00000285879.4	+	4	2369	c.2083C>T	c.(2083-2085)Cct>Tct	p.P695S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	695							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAAATTCCTCAGAGTCC	0.562000										HNSCC(15;0.026)			46	100					0	0	0.011902	0	0
SLC24A2	25769	broad.mit.edu	37	9	19550251	19550251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:19550251C>T	ENST00000341998.2	-	7	1424	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	SLC24A2_ENST00000286344.3_Missense_Mutation_p.E438K	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	455					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GGCTGGTCCTCCTCCTCATCA	0.453000													34	32					0	0	0.005524	0	0
JAG2	3714	broad.mit.edu	37	14	105624096	105624096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:105624096G>A	ENST00000331782.3	-	3	825	c.422C>T	c.(421-423)tCc>tTc	p.S141F	JAG2_ENST00000347004.2_Missense_Mutation_p.S141F|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	141					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GAGGGTAAAGGAGCGCTGCAG	0.657000													2	0					0	0	0.004672	0	0
STIL	6491	broad.mit.edu	37	1	47746767	47746767	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:47746767A>T	ENST00000360380.3	-	13	1726	c.1363T>A	c.(1363-1365)Ttg>Atg	p.L455M	STIL_ENST00000396221.2_Missense_Mutation_p.L455M|STIL_ENST00000371877.3_Missense_Mutation_p.L455M|STIL_ENST00000337817.5_Missense_Mutation_p.L455M|STIL_ENST00000243182.6_Missense_Mutation_p.L455M			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	455					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TGGTTAATCAAAGGAGGATTT	0.423000													54	135					0	0	0.014410	0	0
EPB41L5	57669	broad.mit.edu	37	2	120834608	120834608	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:120834608C>T	ENST00000263713.5	+	8	781	c.567C>T	c.(565-567)ttC>ttT	p.F189F	EPB41L5_ENST00000443124.1_Silent_p.F189F|EPB41L5_ENST00000331393.4_Silent_p.F189F|EPB41L5_ENST00000452780.1_Silent_p.F189F|EPB41L5_ENST00000443902.2_Silent_p.F189F	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	189	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGTTCAGATTCGTGCCTATTC	0.378000													51	50					0	0	0.014410	0	0
LIPG	9388	broad.mit.edu	37	18	47101801	47101801	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:47101801G>A	ENST00000261292.4	+	5	912	c.634G>A	c.(634-636)Gat>Aat	p.D212N	LIPG_ENST00000580036.1_Missense_Mutation_p.D212N|LIPG_ENST00000427224.2_Intron|LIPG_ENST00000577628.1_Missense_Mutation_p.D248N	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	212					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						CTCTCCGGACGATGCAGATTT	0.557000													25	49					0	0	0.003954	0	0
OR4K5	79317	broad.mit.edu	37	14	20388955	20388955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:20388955G>A	ENST00000315915.4	+	1	215	c.190G>A	c.(190-192)Gga>Aga	p.G64R		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTTCTCTTGGGAAACCTTTC	0.433000													79	499					0	0	0.014410	0	0
GSE1	23199	broad.mit.edu	37	16	85667575	85667575	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:85667575G>A	ENST00000253458.7	+	2	239	c.63G>A	c.(61-63)agG>agA	p.R21R	GSE1_ENST00000393243.1_Intron|GSE1_ENST00000405402.2_Intron	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		CCGCGACCAGGACCACCGCCA	0.672000													16	21					0	0	0.004990	0	0
MARK1	4139	broad.mit.edu	37	1	220826538	220826538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:220826538G>A	ENST00000402574.1	+	16	2429	c.1427G>A	c.(1426-1428)cGa>cAa	p.R476Q	MARK1_ENST00000366917.4_Missense_Mutation_p.R611Q|MARK1_ENST00000366918.4_Missense_Mutation_p.R589Q	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	611					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGCTCAAGCCGAAGCACTTTC	0.567000													31	54					0	0	0.008361	0	0
EMC2	9694	broad.mit.edu	37	8	109488126	109488126	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:109488126C>T	ENST00000220853.3	+	8	560	c.525C>T	c.(523-525)gcC>gcT	p.A175A	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1			ER membrane protein complex subunit 2																		CAAAAGCAGCCTTTTGTTTAG	0.294000													18	47					0	0	0.008871	0	0
MAP3K13	9175	broad.mit.edu	37	3	185190821	185190821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:185190821C>T	ENST00000265026.3	+	11	2036	c.1702C>T	c.(1702-1704)Cct>Tct	p.P568S	MAP3K13_ENST00000443863.1_Missense_Mutation_p.P424S|MAP3K13_ENST00000446828.1_Missense_Mutation_p.P361S|MAP3K13_ENST00000424227.1_Missense_Mutation_p.P568S|MAP3K13_ENST00000535426.1_Missense_Mutation_p.P424S	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	568					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CACTGCATCCCCTTTGTCCGG	0.517000													74	135					0	0	0.014410	0	0
MAGEB4	4115	broad.mit.edu	37	X	30260652	30260652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:30260652G>A	ENST00000378982.2	+	1	596	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	134	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TACAAAGGCAGAAATGCTGAA	0.453000													12	32					0	0	0.001855	0	0
C17orf66	256957	broad.mit.edu	37	17	34192239	34192239	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:34192239C>T	ENST00000311880.2	-	3	448	c.300G>A	c.(298-300)agG>agA	p.R100R	C17orf66_ENST00000587585.1_5'UTR|C17orf66_ENST00000592980.1_Silent_p.R100R	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	100							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CTCTCATTTTCCTCAACATCT	0.507000													20	31					0	0	0.003330	0	0
SIDT1	54847	broad.mit.edu	37	3	113285295	113285295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:113285295G>A	ENST00000264852.4	+	2	977	c.251G>A	c.(250-252)aGt>aAt	p.S84N	SIDT1_ENST00000393830.3_Missense_Mutation_p.S84N	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	84						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TATGTGAACAGTTCCTCTGAG	0.517000													55	87					0	0	0.014410	0	0
IL13RA1	3597	broad.mit.edu	37	X	117880927	117880927	+	Missense_Mutation	SNP	C	C	T	rs141752835		TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:117880927C>T	ENST00000371666.3	+	3	306	c.239C>T	c.(238-240)cCg>cTg	p.P80L	IL13RA1_ENST00000371642.1_Missense_Mutation_p.P80L	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	80						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AAAATAGCTCCGGAAACTCGT	0.398000													33	96					0	0	0.013726	0	0
CLCNKB	1188	broad.mit.edu	37	1	16378204	16378204	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:16378204G>A	ENST00000375679.4	+	14	1408		c.e14-1		CLCNKB_ENST00000375667.3_Splice_Site	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGTGGCCAGGAGCTGCTAT	0.622000													40	29					0	0	0.011902	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573022	140573022	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140573022G>A	ENST00000239446.4	+	1	1081	c.897G>A	c.(895-897)ggG>ggA	p.G299G		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		299	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTTTCTGGGGAAATCTTTC	0.378000													30	56					0	0	0.007291	0	0
ARNT2	9915	broad.mit.edu	37	15	80872806	80872806	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:80872806G>A	ENST00000533983.1	+	17	1974	c.1635G>A	c.(1633-1635)acG>acA	p.T545T	ARNT2_ENST00000527771.1_Silent_p.T545T|RP11-379K22.3_ENST00000603875.1_RNA|ARNT2_ENST00000303329.4_Silent_p.T556T			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	556					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CTTCTTCCACGGGCCAGAACA	0.522000													69	70					0	0	0.014410	0	0
SEMA7A	8482	broad.mit.edu	37	15	74711172	74711172	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:74711172G>A	ENST00000261918.4	-	2	848	c.300C>T	c.(298-300)ttC>ttT	p.F100F	SEMA7A_ENST00000543145.2_Silent_p.F100F|SEMA7A_ENST00000542748.1_5'UTR	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	100	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TGCCCTCGGGGAAGTCAAAGA	0.622000													57	70					0	0	0.014410	0	0
C2orf71	388939	broad.mit.edu	37	2	29294885	29294885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:29294885C>T	ENST00000331664.5	-	1	2242	c.2243G>A	c.(2242-2244)gGg>gAg	p.G748E		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	748					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTTAGAGTCCCCCAGCATCCT	0.557000													27	45					0	0	0.004656	0	0
CYP2A6	1548	broad.mit.edu	37	19	41351204	41351204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:41351204G>A	ENST00000301141.5	-	7	1176	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	386					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	AGCACCTTAGGGAGGAAGAAA	0.557000													35	66					0	0	0.006230	0	0
PREX1	57580	broad.mit.edu	37	20	47244112	47244112	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:47244112C>T	ENST00000371941.3	-	39	4933	c.4911G>A	c.(4909-4911)aaG>aaA	p.K1637K	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871.2	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1637					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCATCTGGTCCTTGACTCGCA	0.637000													30	64					0	0	0.005524	0	0
TMEM156	80008	broad.mit.edu	37	4	38987956	38987956	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:38987956C>T	ENST00000381938.3	-	5	930	c.823_splice	c.e5+1	p.A275_splice		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	275						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CAGAACTTACCTGAAAGAACC	0.403000													18	39					0	0	0.007413	0	0
GPR112	139378	broad.mit.edu	37	X	135480078	135480078	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:135480078G>A	ENST00000394143.1	+	20	8514	c.8223G>A	c.(8221-8223)caG>caA	p.Q2741Q	GPR112_ENST00000412101.1_Silent_p.Q2536Q|GPR112_ENST00000370652.1_Silent_p.Q2741Q|GPR112_ENST00000394141.1_Silent_p.Q2536Q|GPR112_ENST00000287534.4_Silent_p.Q2494Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2741					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGAATGAACAGATATTAGCGC	0.398000													41	105					0	0	0.014410	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369869	20369869	+	RNA	SNP	T	T	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:20369869T>C	ENST00000593655.1	-	0	199																											GTTGAAGGAGTTGGTGTTGCT	0.413000													24	39					0	0	0.002780	0	0
NDP	4693	broad.mit.edu	37	X	43809112	43809112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:43809112C>T	ENST00000378062.5	-	3	742	c.335G>A	c.(334-336)gGg>gAg	p.G112E	NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_5'UTR	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	112	CTCK.		G -> E (in ND).		canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity			kidney(1)|lung(2)	3						TCGCATGCCCCCTGAGCATCG	0.607000											OREG0019744	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	6					0	0	0.000602	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128848751	128848751	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:128848751T>C	ENST00000310343.9	-	18	1993	c.1994A>G	c.(1993-1995)aAc>aGc	p.N665S	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.N591S|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.N316S|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.N316S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	665					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TTTCCCCAAGTTGAAAAAGGA	0.428000													29	47					0	0	0.007291	0	0
PRLHR	2834	broad.mit.edu	37	10	120354048	120354048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:120354048G>A	ENST00000239032.2	-	2	847	c.709C>T	c.(709-711)Cct>Tct	p.P237S	PRLHR_ENST00000369169.1_Missense_Mutation_p.P237S	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	237					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		ACCAGCAGAGGGAGCAGGTAG	0.687000													3	1					0	0	0.004672	0	0
ELMO1	9844	broad.mit.edu	37	7	36910028	36910028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:36910028C>T	ENST00000310758.4	-	20	2522	c.1875G>A	c.(1873-1875)atG>atA	p.M625I	ELMO1_ENST00000396045.3_Missense_Mutation_p.M145I|ELMO1_ENST00000442504.1_Missense_Mutation_p.M625I|ELMO1_ENST00000448602.1_Missense_Mutation_p.M625I|ELMO1_ENST00000396040.2_Missense_Mutation_p.M145I|ELMO1_ENST00000341056.3_Missense_Mutation_p.M327I	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	625	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CTTTCTCTTTCATATGAGGGC	0.448000													28	77					0	0	0.013726	0	0
C8orf34	116328	broad.mit.edu	37	8	69434061	69434061	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:69434061C>T	ENST00000337103.4	+	5	2052	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000539993.1_Silent_p.L179L|C8orf34_ENST00000348340.2_Silent_p.L179L|C8orf34_ENST00000518698.1_Silent_p.L265L			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	179					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TTCTTCTCTTCTGAGGCCCCG	0.398000													30	41					0	0	0.013726	0	0
ZNF528	84436	broad.mit.edu	37	19	52918407	52918407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:52918407G>A	ENST00000360465.3	+	7	728	c.302G>A	c.(301-303)gGa>gAa	p.G101E	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGTAATGCAGGAAACAAGCCT	0.378000													15	39					0	0	0.010504	0	0
GCAT	23464	broad.mit.edu	37	22	38211686	38211686	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:38211686G>A	ENST00000323205.6	+	7	972	c.909G>A	c.(907-909)ggG>ggA	p.G303G	GCAT_ENST00000248924.6_Silent_p.G277G	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	277					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ACACGACAGGGCCTGGGCCCC	0.657000													73	70					0	0	0.014410	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77220806	77220806	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:77220806G>T	ENST00000426126.2	+	9	1665	c.1016G>T	c.(1015-1017)tGg>tTg	p.W339L	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.W339L	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	339					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						GGTGGTGTTTGGGCTACAGTA	0.313000													42	53					2.35958e-20	2.44002e-20	0.009718	1	0
LCN1	3933	broad.mit.edu	37	9	138415115	138415115	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:138415115G>A	ENST00000263598.2	+	3	319	c.259G>A	c.(259-261)Gag>Aag	p.E87K	LCN1_ENST00000371781.3_Missense_Mutation_p.E87K	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	87					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		GGCCGTCCTGGAGAAAACTGA	0.652000													9	8					0	0	0.004482	0	0
IDH3G	3421	broad.mit.edu	37	X	153053351	153053351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:153053351G>A	ENST00000370092.3	-	7	652	c.467C>T	c.(466-468)aCc>aTc	p.T156I	IDH3G_ENST00000370093.1_Missense_Mutation_p.T156I|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000427365.2_Missense_Mutation_p.T98I|IDH3G_ENST00000217901.5_Missense_Mutation_p.T156I	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	156					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CTTGTGCCGGGTCACCACGCC	0.607000													37	72					0	0	0.006999	0	0
ZDHHC18	84243	broad.mit.edu	37	1	27158943	27158943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:27158943C>T	ENST00000374142.3	+	2	436	c.341C>T	c.(340-342)cCc>cTc	p.P114L		NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	114						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		TCTAGCTGTCCCTACCTGGCT	0.592000													80	145					0	0	0.014410	0	0
GSG1L	146395	broad.mit.edu	37	16	27974477	27974477	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:27974477C>T	ENST00000447459.2	-	2	481	c.397_splice	c.e2+1	p.G133_splice	GSG1L_ENST00000395724.3_Splice_Site_p.G133_splice|GSG1L_ENST00000380898.2_5'UTR	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	133						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						TCACACTCACCTTTCTCCGAT	0.532000													11	21					0	0	0.001855	0	0
OTOGL	283310	broad.mit.edu	37	12	80707269	80707269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:80707269C>T	ENST00000458043.2	+	30	3443	c.3437C>T	c.(3436-3438)tCt>tTt	p.S1146F	OTOGL_ENST00000547103.1_Missense_Mutation_p.S1146F	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GACGTTACTTCTTTTGCCAAA	0.333000													17	35					0	0	0.007413	0	0
SLC24A3	57419	broad.mit.edu	37	20	19566105	19566105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:19566105G>A	ENST00000328041.6	+	6	726	c.529G>A	c.(529-531)Gat>Aat	p.D177N		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	177						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CACCAAAGGCGATGTGGGAGT	0.552000													69	127					0	0	0.014410	0	0
GAA	2548	broad.mit.edu	37	17	78091451	78091451	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:78091451A>C	ENST00000302262.3	+	17	2603	c.2384A>C	c.(2383-2385)gAg>gCg	p.E795A	GAA_ENST00000390015.3_Missense_Mutation_p.E795A	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	795					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCTCCCCGTGAGCCAGCCATC	0.677000													18	29					0	0	0.010504	0	0
SETD1A	9739	broad.mit.edu	37	16	30981001	30981001	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:30981001G>T	ENST00000262519.8	+	12	3693	c.3007G>T	c.(3007-3009)Gtg>Ttg	p.V1003L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1003	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GGAGACAGAGGTGTCGGATGG	0.512000													9	24					2.17888e-05	2.2216e-05	0.006214	1	0
EEFSEC	60678	broad.mit.edu	37	3	127983479	127983479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:127983479C>T	ENST00000254730.6	+	4	695	c.641C>T	c.(640-642)tCc>tTc	p.S214F	EEFSEC_ENST00000483457.1_Intron	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	214						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TCCCAGATTTCCATCCCAACG	0.557000													66	96					0	0	0.014410	0	0
NAF1	92345	broad.mit.edu	37	4	164050071	164050071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:164050071G>A	ENST00000274054.2	-	8	1656	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	488					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	p.S488Y(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TCCAAAATGAGAATTACTATC	0.428000													19	24					0	0	0.007413	0	0
VWF	7450	broad.mit.edu	37	12	6122779	6122779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:6122779G>A	ENST00000261405.5	-	32	5742	c.5488C>T	c.(5488-5490)Cgc>Tgc	p.R1830C		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1830	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCATCGTAGCGATCTCCAATT	0.532000													30	47					0	0	0.012213	0	0
FMN2	56776	broad.mit.edu	37	1	240555833	240555833	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:240555833G>A	ENST00000319653.9	+	15	5111	c.4881G>A	c.(4879-4881)gaG>gaA	p.E1627E	FMN2_ENST00000545751.1_Silent_p.E223E	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1627	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGAGGCAGAGGAAAATTCAC	0.348000													25	50					0	0	0.010818	0	0
BMP8B	656	broad.mit.edu	37	1	40230531	40230531	+	Missense_Mutation	SNP	C	C	T	rs115705483	by1000genomes	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:40230531C>T	ENST00000397360.2	-	4	1186	c.823G>A	c.(823-825)Ggc>Agc	p.G275S	BMP8B_ENST00000372827.3_Intron			P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	251					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGGCAGTGGCCCTGCAGCAGA	0.677000													4	62					0	0	0.000602	0	0
IGLL1	3543	broad.mit.edu	37	22	23915530	23915530	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:23915530G>A	ENST00000330377.2	-	3	682	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C	AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	189	C region (By similarity to lambda light- chain).|Ig-like C1-type.		R -> H (in dbSNP:rs8138122).		immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						TAGCTTCTGCGGGACCTCCAC	0.627000													37	60					0	0	0.003755	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130825	52130825	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:52130825C>T	ENST00000222107.4	-	6	1310	c.1172G>A	c.(1171-1173)tGg>tAg	p.W391*	SIGLEC5_ENST00000570106.2_Nonsense_Mutation_p.W391*|SIGLEC5_ENST00000599649.1_Nonsense_Mutation_p.W391*|SIGLEC5_ENST00000534261.2_Nonsense_Mutation_p.W391*|SIGLEC5_ENST00000429354.3_Nonsense_Mutation_p.W391*			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	391					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GCTGTTGGCCCAGGGCCCAGC	0.657000													14	26					0	0	0.003163	0	0
IPO5	3843	broad.mit.edu	37	13	98645174	98645174	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:98645174A>T	ENST00000261574.5	+	10	932	c.752A>T	c.(751-753)gAt>gTt	p.D251V	IPO5_ENST00000539640.1_Missense_Mutation_p.D108V|IPO5_ENST00000490680.1_Missense_Mutation_p.D233V	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	233					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TACCAGAATGATGATTCTGTC	0.398000													85	68					0	0	0.014410	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166883354	166883354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:166883354G>A	ENST00000510118.1	-	13	1362	c.1022C>T	c.(1021-1023)cCc>cTc	p.P341L	RPS6KA2_ENST00000265678.4_Missense_Mutation_p.P316L|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.P227L|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.P324L|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.P227L			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	316	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CACAAAGAAGGGATGGCGCTT	0.507000													18	14					0	0	0.007413	0	0
FAM135B	51059	broad.mit.edu	37	8	139323150	139323150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:139323150G>A	ENST00000395297.1	-	3	261	c.91C>T	c.(91-93)Cga>Tga	p.R31*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	31										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAGGTCACTCGGATCTGGTAA	0.488000										HNSCC(54;0.14)			19	45					0	0	0.014323	0	0
ZNF423	23090	broad.mit.edu	37	16	49670603	49670603	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:49670603G>A	ENST00000561648.1	-	4	2513	c.2460C>T	c.(2458-2460)atC>atT	p.I820I	ZNF423_ENST00000535559.1_Silent_p.I703I|ZNF423_ENST00000562520.1_Silent_p.I760I|ZNF423_ENST00000567169.1_Silent_p.I703I|ZNF423_ENST00000563137.2_Silent_p.I760I|ZNF423_ENST00000262383.2_Silent_p.I820I|ZNF423_ENST00000562871.1_Silent_p.I760I	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	820					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCTCCAGCAGGATGATGGCGT	0.572000													15	12					0	0	0.002450	0	0
APLNR	187	broad.mit.edu	37	11	57003433	57003433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:57003433C>T	ENST00000606794.1	-	1	1242	c.1046G>A	c.(1045-1047)gGg>gAg	p.G349E		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	349						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTGGCTGTGCCCCGAAGAGTA	0.637000													25	45					0	0	0.003954	0	0
CXADR	1525	broad.mit.edu	37	21	18933054	18933054	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:18933054C>T	ENST00000284878.7	+	5	1354	c.606C>T	c.(604-606)gcC>gcT	p.A202A	CXADR_ENST00000400169.1_Silent_p.A202A|CXADR_ENST00000400166.1_Intron|CXADR_ENST00000306618.10_Intron|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400165.1_Intron	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	202	Ig-like C2-type 2.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TAAAAAATGCCTCTTCTGAGT	0.378000													40	59					0	0	0.006999	0	0
C1orf106	55765	broad.mit.edu	37	1	200867496	200867496	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:200867496C>T	ENST00000367342.4	+	2	423	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	C1orf106_ENST00000413687.2_5'UTR	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	75										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TCCCCCCTCCCTGCTCTGTGC	0.532000													46	70					0	0	0.014410	0	0
TMEM246	84302	broad.mit.edu	37	9	104238339	104238339	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:104238339G>A	ENST00000374851.1	-	4	2183	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.R346W|TMEM246_ENST00000374848.3_Missense_Mutation_p.R346W|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	346						integral to membrane											GTGAGGGTCCGGCGGGCCGCA	0.612000													18	9					0	0	0.006122	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596795	142596795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:142596795G>A	ENST00000370503.2	-	2	358	c.275C>T	c.(274-276)tCt>tTt	p.S92F	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	92										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AGATCCTTCAGATAAGTCTAC	0.433000													71	139					0	0	0.014410	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661046	113661046	+	RNA	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:113661046G>A	ENST00000393544.2	+	0	1094																											CAACATGACCGAAATGAGCTT	0.527000													20	44					0	0	0.010504	0	0
KLHDC4	54758	broad.mit.edu	37	16	87790058	87790058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:87790058G>A	ENST00000270583.5	-	3	275	c.217C>T	c.(217-219)Cct>Tct	p.P73S	KLHDC4_ENST00000353170.5_Intron|KLHDC4_ENST00000347925.5_Missense_Mutation_p.P73S	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	73										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TCTTTCTCAGGATGAACCGAG	0.448000													15	13					0	0	0.004007	0	0
TARBP1	6894	broad.mit.edu	37	1	234563101	234563101	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:234563101G>A	ENST00000040877.1	-	19	3284	c.3285C>T	c.(3283-3285)aaC>aaT	p.N1095N		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1095					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CATGTCCAAGGTTTTCTATGA	0.303000													17	23					0	0	0.007413	0	0
ZNF423	23090	broad.mit.edu	37	16	49671655	49671655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:49671655G>A	ENST00000561648.1	-	4	1461	c.1408C>T	c.(1408-1410)Cct>Tct	p.P470S	ZNF423_ENST00000535559.1_Missense_Mutation_p.P353S|ZNF423_ENST00000562520.1_Missense_Mutation_p.P410S|ZNF423_ENST00000567169.1_Missense_Mutation_p.P353S|ZNF423_ENST00000563137.2_Missense_Mutation_p.P410S|ZNF423_ENST00000262383.2_Missense_Mutation_p.P470S|ZNF423_ENST00000562871.1_Missense_Mutation_p.P410S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	470					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGCATCACAGGGTAGGCATGG	0.572000													28	25					0	0	0.012213	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186571030	186571030	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:186571030C>T	ENST00000412955.2	+	2	324	c.183C>T	c.(181-183)acC>acT	p.T61T	ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Silent_p.T61T|ADIPOQ_ENST00000444204.2_Silent_p.T61T			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	61	Collagen-like.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		GAGATGGCACCCCTGGTGAGA	0.557000													12	10					0	0	0.010729	0	0
FAM47A	158724	broad.mit.edu	37	X	34148254	34148254	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:34148254C>T	ENST00000346193.3	-	1	2193	c.2142G>A	c.(2140-2142)ttG>ttA	p.L714L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	714										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGGGTCAATCAAAGGTTCAT	0.428000													52	84					0	0	0.014410	0	0
COL6A5	256076	broad.mit.edu	37	3	130095608	130095608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:130095608C>T	ENST00000265379.6	+	3	1090	c.596C>T	c.(595-597)tCc>tTc	p.S199F	COL6A5_ENST00000432398.2_Missense_Mutation_p.S199F			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	199	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGCACATTTTCCCAAAACATG	0.483000													14	28					0	0	0.003163	0	0
FLNC	2318	broad.mit.edu	37	7	128497214	128497214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:128497214C>T	ENST00000325888.8	+	46	7865	c.7604C>T	c.(7603-7605)tCg>tTg	p.S2535L	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.S2502L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2535	Interaction with INPPL1.			S -> F (in Ref. 4; AAF80245).	cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AATGCCGGCTCGGGGGCCTTG	0.607000													64	205					0	0	0.014410	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530763	140530763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140530763G>A	ENST00000231136.1	+	1	925	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	PCDHB6_ENST00000543635.1_Missense_Mutation_p.E173K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		309	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATTTTGAGGAAATTCAGTC	0.463000													31	55					0	0	0.009535	0	0
STK40	83931	broad.mit.edu	37	1	36821031	36821031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:36821031G>A	ENST00000359297.2	-	4	353	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373129.3_Missense_Mutation_p.R116C|STK40_ENST00000373130.3_Missense_Mutation_p.R121C|STK40_ENST00000373132.3_Missense_Mutation_p.R116C			Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	116	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				TCACAGGTGCGGTCCTGGGAG	0.587000													46	88					0	0	0.011902	0	0
BRD8	10902	broad.mit.edu	37	5	137497483	137497483	+	Splice_Site	SNP	A	A	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:137497483A>C	ENST00000254900.5	-	17	2621		c.e17+1		BRD8_ENST00000411594.2_Splice_Site|BRD8_ENST00000402931.1_Splice_Site|BRD8_ENST00000515014.1_Splice_Site|BRD8_ENST00000230901.5_Splice_Site|BRD8_ENST00000455658.2_Splice_Site	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8						cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACCATGGCTCACCTCTGCACA	0.428000													12	26					0	0	0.013537	0	0
CEBPG	1054	broad.mit.edu	37	19	33870288	33870288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:33870288C>T	ENST00000284000.3	+	2	805	c.143C>T	c.(142-144)cCc>cTc	p.P48L		NM_001252296.1|NM_001806.3	NP_001239225.1|NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma	48					B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.P48L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					GCTGTGGCTCCCAGCAAGCAG	0.562000													10	30					0	0	0.010729	0	0
SCN7A	6332	broad.mit.edu	37	2	167334152	167334152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:167334152C>T	ENST00000409855.1	-	2	181	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	19					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTTATAAGTTCAAAAGACTCT	0.358000													4	8					0	0	0.000602	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153309716	153309716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:153309716G>A	ENST00000368739.3	-	8	1230	c.872C>T	c.(871-873)tCc>tTc	p.S291F	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.S295F			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	295					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGGTGGAGGAGCCTTGGAC	0.542000													29	36					0	0	0.007291	0	0
SGOL1	151648	broad.mit.edu	37	3	20216331	20216331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:20216331G>A	ENST00000412997.1	-	6	1043	c.692C>T	c.(691-693)cCa>cTa	p.P231L	SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000412868.1_Missense_Mutation_p.P231L|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000421451.1_Missense_Mutation_p.P231L|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.P231L|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000417364.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000383774.1_Intron	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	231					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						GTTTACTAGTGGGTCTAAAAA	0.388000													52	87					0	0	0.014410	0	0
U2SURP	23350	broad.mit.edu	37	3	142740370	142740370	+	Translation_Start_Site	SNP	T	T	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:142740370T>G	ENST00000397933.2	+	0	924				U2SURP_ENST00000493598.2_Missense_Mutation_p.N274K|U2SURP_ENST00000473835.2_Missense_Mutation_p.N275K			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing						RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GCACTACTAATTTATACCTTG	0.328000													22	33					0	0	0.005443	0	0
TNR	7143	broad.mit.edu	37	1	175335019	175335019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:175335019G>A	ENST00000367674.1	-	11	3017	c.2309C>T	c.(2308-2310)gCt>gTt	p.A770V	TNR_ENST00000263525.2_Missense_Mutation_p.A770V	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	770	Fibronectin type-III 5.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCTGTGAAAGCATCCACAGT	0.512000													33	60					0	0	0.004289	0	0
MYH4	4622	broad.mit.edu	37	17	10351249	10351249	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:10351249C>T	ENST00000255381.2	-	34	4961	c.4851G>A	c.(4849-4851)agG>agA	p.R1617R	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1617					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTTCTTGATCCTCAGAGCAT	0.463000													64	110					0	0	0.014410	0	0
RET	5979	broad.mit.edu	37	10	43617399	43617399	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:43617399G>A	ENST00000355710.3	+	16	2968	c.2736G>A	c.(2734-2736)cgG>cgA	p.R912R	RET_ENST00000340058.5_Silent_p.R912R	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	912	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTTAGGGTCGGATTCCAGTTA	0.453000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				45	46					0	0	0.014410	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514302	58514302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:58514302G>A	ENST00000370996.3	-	1	1050	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	229	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			GTGCCCTCGGGGCCTGCGGGC	0.687000													20	38					0	0	0.012319	0	0
FHOD1	29109	broad.mit.edu	37	16	67264128	67264128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:67264128C>T	ENST00000258201.4	-	20	3302	c.3055G>A	c.(3055-3057)Gag>Aag	p.E1019K	FHOD1_ENST00000567687.1_Missense_Mutation_p.E598K	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1019					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	p.E1019Q(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GAGAACTTCTCTGTCTGGAGA	0.592000													32	13					0	0	0.009535	0	0
CGNL1	84952	broad.mit.edu	37	15	57810594	57810594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:57810594G>A	ENST00000281282.5	+	10	2692	c.2614G>A	c.(2614-2616)Gaa>Aaa	p.E872K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	872						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATTGTAGGGAGAAATACGACA	0.473000													10	13					0	0	0.010729	0	0
COL9A3	1299	broad.mit.edu	37	20	61453961	61453961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:61453961C>T	ENST00000343916.3	+	10	499	c.496C>T	c.(496-498)Cct>Tct	p.P166S		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	166	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					AGGAGTCCTCCCTGAAGGCGC	0.612000													26	56					0	0	0.006320	0	0
ACKR2	1238	broad.mit.edu	37	3	42906105	42906105	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:42906105G>C	ENST00000422265.1	+	3	286	c.111G>C	c.(109-111)agG>agC	p.R37S	ACKR2_ENST00000442925.1_Missense_Mutation_p.R37S|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.R37S|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		TGCTCTGCAGGAAGGATGCAG	0.517000													45	77					0	0	0.014410	0	0
PRELP	5549	broad.mit.edu	37	1	203453085	203453085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:203453085C>T	ENST00000343110.2	+	2	900	c.773C>T	c.(772-774)cCt>cTt	p.P258L		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	258					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGACCATCCCTAACGGATAC	0.512000													53	84					0	0	0.014410	0	0
WDR44	54521	broad.mit.edu	37	X	117529212	117529212	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:117529212G>A	ENST00000254029.3	+	6	1353	c.957_splice	c.e6-1	p.E320_splice	WDR44_ENST00000371825.3_Splice_Site_p.E320_splice|WDR44_ENST00000371822.5_Splice_Site_p.E295_splice	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	320						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						ATATTTCCAGGAAAATGGAAA	0.348000													16	16					0	0	0.003163	0	0
SEMA5B	54437	broad.mit.edu	37	3	122680022	122680022	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:122680022C>T	ENST00000195173.4	-	2	392	c.89G>A	c.(88-90)tGg>tAg	p.W30*	SEMA5B_ENST00000451055.2_Nonsense_Mutation_p.W84*|SEMA5B_ENST00000357599.3_Nonsense_Mutation_p.W30*|SEMA5B_ENST00000465147.1_Intron			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	30					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCCTACTGTCCATCCACACCT	0.627000													22	38					0	0	0.014323	0	0
ZNF341	84905	broad.mit.edu	37	20	32379014	32379014	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:32379014C>T	ENST00000375200.1	+	15	2621	c.2256C>T	c.(2254-2256)gcC>gcT	p.A752A	RP4-553F4.6_ENST00000443171.1_RNA|ZNF341_ENST00000342427.2_Silent_p.A745A|RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	752					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGAGGGCAGCCCCCCGCAGTT	0.677000													18	30					0	0	0.008871	0	0
N4BP1	9683	broad.mit.edu	37	16	48595073	48595073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:48595073G>A	ENST00000262384.3	-	2	1717	c.1481C>T	c.(1480-1482)cCt>cTt	p.P494L	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	494					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GGCAACAGAAGGTGAAAGGCC	0.428000													36	29					0	0	0.003755	0	0
TST	7263	broad.mit.edu	37	22	37407110	37407110	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:37407110G>A	ENST00000403892.3	-	2	1586	c.852C>T	c.(850-852)ccC>ccT	p.P284P	TST_ENST00000249042.3_Silent_p.P284P	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	284	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GGCTCTCTGGGGGGGCCCGGC	0.622000													23	66					0	0	0.002780	0	0
SNED1	25992	broad.mit.edu	37	2	242004792	242004792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:242004792G>A	ENST00000310397.8	+	21	2791	c.2791G>A	c.(2791-2793)Ggt>Agt	p.G931S	SNED1_ENST00000405547.3_Missense_Mutation_p.G931S|SNED1_ENST00000342631.6_Missense_Mutation_p.G931S|SNED1_ENST00000401884.1_Missense_Mutation_p.G931S	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	931	Fibronectin type-III 1.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CCCGCCCAATGGTCCAGCCGC	0.607000													20	12					0	0	0.007413	0	0
CLEC3B	7123	broad.mit.edu	37	3	45077250	45077250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:45077250C>T	ENST00000296130.4	+	3	623	c.443C>T	c.(442-444)aCc>aTc	p.T148I	CLEC3B_ENST00000490386.1_3'UTR|CLEC3B_ENST00000428034.1_Missense_Mutation_p.T106I	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	148	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGGACATGACCGGCGCCCGC	0.667000													22	32					0	0	0.012319	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140718911	140718911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:140718911G>A	ENST00000394576.2	+	1	373	c.373G>A	c.(373-375)Gat>Aat	p.D125N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAATAACAGATATTAACGA	0.453000													42	62					0	0	0.013114	0	0
OR4K2	390431	broad.mit.edu	37	14	20344704	20344704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:20344704C>T	ENST00000298642.2	+	1	314	c.278C>T	c.(277-279)tCt>tTt	p.S93F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S93F(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAAACCATCTCTTTTGATGGC	0.393000													61	373					0	0	0.014410	0	0
MAGI3	260425	broad.mit.edu	37	1	114193690	114193690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:114193690C>T	ENST00000369615.1	+	14	2364	c.2302C>T	c.(2302-2304)Cgc>Tgc	p.R768C	MAGI3_ENST00000307546.9_Missense_Mutation_p.R768C|MAGI3_ENST00000369617.4_Missense_Mutation_p.R793C|MAGI3_ENST00000369611.4_Missense_Mutation_p.R768C	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	793	Interaction with BAI1.|PDZ 4.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGTCGGCTCCGCGCAGCTGA	0.438000													33	49					0	0	0.005524	0	0
OR1C1	26188	broad.mit.edu	37	1	247921544	247921544	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:247921544G>A	ENST00000408896.2	-	1	438	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TAGGGGAATGGAGGTGAGAGT	0.473000													15	19					0	0	0.003163	0	0
LARP6	55323	broad.mit.edu	37	15	71124525	71124525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:71124525G>A	ENST00000299213.8	-	3	1412	c.1342C>T	c.(1342-1344)Ccc>Tcc	p.P448S		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	448					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CTCGTACCGGGGCTTTTCTCC	0.617000													21	106					0	0	0.009535	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076759	57076759	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:57076759C>T	ENST00000532437.1	-	5	3737	c.3426G>A	c.(3424-3426)aaG>aaA	p.K1142K	TNKS1BP1_ENST00000358252.3_Silent_p.K1142K			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1142	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CACCTTCCATCTTGCTAGAAG	0.567000													23	51					0	0	0.002780	0	0
CSDE1	7812	broad.mit.edu	37	1	115276670	115276670	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:115276670C>T	ENST00000438362.2	-	8	1167	c.789G>A	c.(787-789)aaG>aaA	p.K263K	CSDE1_ENST00000369530.1_Silent_p.K232K|CSDE1_ENST00000358528.4_Silent_p.K217K|CSDE1_ENST00000530886.1_Silent_p.K87K|CSDE1_ENST00000261443.5_Silent_p.K186K|CSDE1_ENST00000339438.6_Silent_p.K186K|CSDE1_ENST00000534699.1_Silent_p.K217K	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	217					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTAAGTCACCCTTAAATTCAC	0.348000													25	46					0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179583125	179583125	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:179583125C>T	ENST00000589042.1	-	85	24932	c.24708G>A	c.(24706-24708)gaG>gaA	p.E8236E	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.E7919E|TTN_ENST00000342992.6_Silent_p.E6992E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7919	Ig-like 65.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGCATAATCCTCTATTGTGC	0.403000													17	24					0	0	0.006122	0	0
KALRN	8997	broad.mit.edu	37	3	124149592	124149592	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:124149592G>A	ENST00000360013.3	+	16	2920	c.2793G>A	c.(2791-2793)cgG>cgA	p.R931R	KALRN_ENST00000460856.1_Silent_p.R931R|KALRN_ENST00000240874.3_Silent_p.R931R	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	931					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCTGCAGCGGGAGCACGAGC	0.567000													12	29					0	0	0.013537	0	0
ASUN	55726	broad.mit.edu	37	12	27081199	27081199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:27081199G>A	ENST00000261191.7	-	5	1059	c.523C>T	c.(523-525)Ctt>Ttt	p.L175F	ASUN_ENST00000539625.1_Missense_Mutation_p.L74F	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	175					cell division|mitosis|regulation of mitotic cell cycle		protein binding										CAGTCTTCAAGCATTCGCACA	0.313000													24	41					0	0	0.004656	0	0
BPIFA2	140683	broad.mit.edu	37	20	31767457	31767457	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:31767457C>T	ENST00000253362.2	+	7	839	c.693C>T	c.(691-693)gtC>gtT	p.V231V	BPIFA2_ENST00000354932.5_Silent_p.V231V			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	231						extracellular region	lipid binding										ATGTGAATGTCATTCAGCAGG	0.552000													48	65					0	0	0.014410	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192469	132192469	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:132192469G>A	ENST00000359827.3	-	2	1946	c.984C>T	c.(982-984)gtC>gtT	p.V328V	PLXNA4_ENST00000378539.5_Silent_p.V328V|PLXNA4_ENST00000321063.4_Silent_p.V328V|PLXNA4_ENST00000423507.2_Silent_p.V328V			Q9HCM2	PLXA4_HUMAN	plexin A4	328	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATCTGGATGGACTCCAAGGG	0.592000													48	29					0	0	0.014410	0	0
SGSM2	9905	broad.mit.edu	37	17	2274704	2274704	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:2274704C>T	ENST00000268989.3	+	13	1749	c.1572C>T	c.(1570-1572)ccC>ccT	p.P524P	SGSM2_ENST00000574563.1_Silent_p.P479P|SGSM2_ENST00000426855.2_Silent_p.P479P	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	479						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GCTGCATCCCCGACCGGTGAG	0.662000													29	38					0	0	0.012213	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570767	47570767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:47570767G>A	ENST00000253048.5	-	15	2795	c.2758C>T	c.(2758-2760)Ccg>Tcg	p.P920S	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	920							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GTTGGGGGCGGCCCAGACCCC	0.711000													20	46					0	0	0.007413	0	0
MMRN1	22915	broad.mit.edu	37	4	90857303	90857303	+	Nonsense_Mutation	SNP	T	T	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:90857303T>G	ENST00000394980.1	+	7	2791	c.2472T>G	c.(2470-2472)taT>taG	p.Y824*	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Nonsense_Mutation_p.Y566*|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.Y824*			Q13201	MMRN1_HUMAN	multimerin 1	824					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AAAAGATGTATCAAATGTTCA	0.353000													18	30					0	0	0.007413	0	0
RAB40A	142684	broad.mit.edu	37	X	102754975	102754975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:102754975C>T	ENST00000372633.1	-	1	2828	c.710G>A	c.(709-711)cGa>cAa	p.R237Q	RAB40A_ENST00000304236.1_Missense_Mutation_p.R237Q|LL0XNC01-250H12.3_ENST00000445990.1_RNA			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	237					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						GGAGAGGCCTCGCATCATCCT	0.582000													70	125					0	0	0.014410	0	0
OR5M1	390168	broad.mit.edu	37	11	56380901	56380901	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:56380901G>A	ENST00000526538.1	-	1	77	c.78C>T	c.(76-78)atC>atT	p.I26I		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CCCCAAACAGGATCTTCTCTA	0.473000													48	80					0	0	0.014410	0	0
NLRP7	199713	broad.mit.edu	37	19	55450786	55450786	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:55450786G>A	ENST00000446217.1	-	6	1887	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	NLRP7_ENST00000340844.2_Silent_p.I467I|NLRP7_ENST00000448121.2_Silent_p.I467I|NLRP7_ENST00000328092.5_Silent_p.I467I|NLRP7_ENST00000592784.1_Silent_p.I467I|NLRP7_ENST00000590030.1_Silent_p.I467I|NLRP7_ENST00000588756.1_Silent_p.I467I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	467							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGCTGAGGTGGATGAAGGAGT	0.622000													23	35					0	0	0.002780	0	0
SRBD1	55133	broad.mit.edu	37	2	45829063	45829063	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:45829063G>A	ENST00000263736.4	-	3	302	c.240C>T	c.(238-240)gtC>gtT	p.V80V		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	80	Poly-Val.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TAACAACAACGACTTCTGAGC	0.483000													87	126					0	0	0.014410	0	0
BSN	8927	broad.mit.edu	37	3	49680262	49680262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:49680262C>T	ENST00000296452.4	+	3	1309	c.1195C>T	c.(1195-1197)Ccc>Tcc	p.P399S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	399					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGGCCCAAAACCCTTGGGCTC	0.642000													17	58					0	0	0.006122	0	0
SGIP1	84251	broad.mit.edu	37	1	67091554	67091554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:67091554C>T	ENST00000371037.4	+	2	112	c.35C>T	c.(34-36)gCc>gTc	p.A12V	SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371035.3_Missense_Mutation_p.A12V|SGIP1_ENST00000371036.3_Missense_Mutation_p.A11V|SGIP1_ENST00000371039.1_Missense_Mutation_p.A12V|SGIP1_ENST00000237247.6_Missense_Mutation_p.A12V	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	12					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ACAAGGAAGGCCTTTGGAATA	0.393000													28	53					0	0	0.003271	0	0
MRPL46	26589	broad.mit.edu	37	15	89008963	89008963	+	Silent	SNP	A	A	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:89008963A>T	ENST00000312475.4	-	2	311	c.270T>A	c.(268-270)cgT>cgA	p.R90R		NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	90						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CATCCAGAGCACGAAGCTCGT	0.398000													45	102					0	0	0.014410	0	0
NSUN5	55695	broad.mit.edu	37	7	72718303	72718303	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:72718303G>A	ENST00000428206.1	-	7	757	c.744C>T	c.(742-744)ttC>ttT	p.F248F	NSUN5_ENST00000438747.2_Silent_p.F286F|NSUN5_ENST00000252594.6_Silent_p.F286F|NSUN5_ENST00000310326.8_Silent_p.F286F	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	286							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				AGACCGCCAGGAAGTCCTCCT	0.622000													12	46					0	0	0.001855	0	0
CTHRC1	115908	broad.mit.edu	37	8	104388199	104388199	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:104388199T>A	ENST00000415886.2	+	2	491	c.384T>A	c.(382-384)aaT>aaA	p.N128K	CTHRC1_ENST00000520337.1_Intron|CTHRC1_ENST00000330295.5_Intron			Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	0						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TAAGTTTGAATTATTTTAAAA	0.308000													9	15					0	0	0.006214	0	0
OR10S1	219873	broad.mit.edu	37	11	123847882	123847882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:123847882G>A	ENST00000531945.1	-	1	606	c.517C>T	c.(517-519)Cac>Tac	p.H173Y		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGGGAGGTGTGGATTGCAGCG	0.562000													15	53					0	0	0.004007	0	0
HBE1	3046	broad.mit.edu	37	11	5290845	5290845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:5290845G>A	ENST00000380237.1	-	4	498	c.154C>T	c.(154-156)Ccc>Tcc	p.P52S	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.P52S			P02100	HBE_HUMAN	hemoglobin, epsilon 1	52					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGCAGAGGGAGACGACAGG	0.478000													25	74					0	0	0.005443	0	0
OR4K5	79317	broad.mit.edu	37	14	20388954	20388954	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:20388954G>A	ENST00000315915.4	+	1	214	c.189G>A	c.(187-189)ttG>ttA	p.L63L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L63F(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACTTTCTCTTGGGAAACCTTT	0.428000													78	496					0	0	0.014410	0	0
MYH11	4629	broad.mit.edu	37	16	15829411	15829411	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:15829411C>T	ENST00000338282.6	-	26	3424	c.3318G>A	c.(3316-3318)aaG>aaA	p.K1106K	MYH11_ENST00000396324.3_Silent_p.K1113K|MYH11_ENST00000300036.5_Silent_p.K1106K|MYH11_ENST00000452625.2_Silent_p.K1113K|MYH11_ENST00000576790.1_Silent_p.K1106K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1106					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGGCATTGTTCTTCTGAGCGA	0.547000			T	CBFB	AML								41	73					0	0	0.011902	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874906	20874906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:20874906C>T	ENST00000381552.1	+	8	1312	c.944C>T	c.(943-945)tCc>tTc	p.S315F	SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S315F|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S197F|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S315F|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S266F			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	315					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TCTGAGAAATCCAAGTTTATT	0.373000													17	29					0	0	0.004990	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725271	106725271	+	RNA	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:106725271G>A	ENST00000390609.2	-	0	359																											CGTGTTCTTGGAATTGTCTCT	0.537000													87	477					0	0	0.014410	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33052830	33052830	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:33052830C>T	ENST00000418931.2	+	3	584	c.468C>T	c.(466-468)gtC>gtT	p.V156V		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	156	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						GCATTCAAGTCCGATGGTTCC	0.552000													80	72					0	0	0.014410	0	0
FBXO43	286151	broad.mit.edu	37	8	101153313	101153313	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:101153313T>A	ENST00000428847.2	-	2	1485	c.1169A>T	c.(1168-1170)cAa>cTa	p.Q390L		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	390					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CTGCGAGCTTTGTTCCCGAAG	0.498000													50	67					0	0	0.014410	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379676	145379676	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:145379676G>A	ENST00000511217.1	+	2	486	c.434G>A	c.(433-435)aGg>aAg	p.R145K	SH3RF2_ENST00000359120.4_Missense_Mutation_p.R145K			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	145	SH3 1.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGACCTAAGGTTTAATAAG	0.493000													22	49					0	0	0.010504	0	0
KLHL15	80311	broad.mit.edu	37	X	24006997	24006997	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:24006997G>A	ENST00000328046.8	-	4	1111	c.856C>T	c.(856-858)Cga>Tga	p.R286*		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	286										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						ATCATTCCTCGAAATACTGTA	0.438000													72	133					0	0	0.014410	0	0
CNIH4	29097	broad.mit.edu	37	1	224553591	224553591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:224553591C>T	ENST00000465271.1	+	3	224	c.149C>T	c.(148-150)cCa>cTa	p.P50L	CNIH4_ENST00000468318.1_3'UTR|CNIH4_ENST00000366858.3_Missense_Mutation_p.P50L|CNIH4_ENST00000366856.3_Missense_Mutation_p.P50L|CNIH4_ENST00000366857.5_Missense_Mutation_p.P50L	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	50					intracellular signal transduction	endoplasmic reticulum|integral to membrane	protein binding			kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		TGGGTAATTCCAGAATTGATT	0.388000													60	102					0	0	0.014410	0	0
ITGAL	3683	broad.mit.edu	37	16	30507603	30507603	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:30507603C>T	ENST00000356798.6	+	14	1869	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.P480P	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	563					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GGCTTAGTCCCCAGCCAAGTC	0.632000													27	69					0	0	0.005443	0	0
OR8B8	26493	broad.mit.edu	37	11	124310913	124310913	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:124310913G>A	ENST00000328064.2	-	1	141	c.69C>T	c.(67-69)gtC>gtT	p.V23V		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGGGGATCTGGACTCCCGGTT	0.512000													17	51					0	0	0.007413	0	0
MTSS1	9788	broad.mit.edu	37	8	125568001	125568001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:125568001C>T	ENST00000518547.1	-	13	2022	c.1549G>A	c.(1549-1551)Gac>Aac	p.D517N	MTSS1_ENST00000354184.4_Missense_Mutation_p.D235N|MTSS1_ENST00000325064.5_Missense_Mutation_p.D521N|MTSS1_ENST00000524090.1_Missense_Mutation_p.D407N|MTSS1_ENST00000395508.2_Missense_Mutation_p.D291N|MTSS1_ENST00000378017.3_Missense_Mutation_p.D492N|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000431961.2_Missense_Mutation_p.D235N	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	517					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGGATGGTGTCCTCAGAGCAG	0.602000													5	12					0	0	0.001168	0	0
SOX9	6662	broad.mit.edu	37	17	70119026	70119026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:70119026C>T	ENST00000245479.2	+	2	970	c.598C>T	c.(598-600)Ccc>Tcc	p.P200S		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	200					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GCACATCTCCCCCAACGCCAT	0.672000													23	82					0	0	0.004656	0	0
KIF19	124602	broad.mit.edu	37	17	72351340	72351340	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:72351340C>T	ENST00000389916.4	+	20	3024	c.2886C>T	c.(2884-2886)ccC>ccT	p.P962P		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	962					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ACTCCTCACCCCTGGCTGTTC	0.652000													23	45					0	0	0.003330	0	0
METTL25	84190	broad.mit.edu	37	12	82871080	82871080	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:82871080C>T	ENST00000248306.3	+	11	1737	c.1668C>T	c.(1666-1668)ccC>ccT	p.P556P		NM_032230.2	NP_115606.2			methyltransferase like 25									p.P556P(1)									TACTGGCTCCCTGTATAGAGA	0.284000													24	58					0	0	0.013726	0	0
LTBP1	4052	broad.mit.edu	37	2	33540274	33540274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:33540274G>A	ENST00000404816.2	+	24	4021	c.3668G>A	c.(3667-3669)gGt>gAt	p.G1223D	LTBP1_ENST00000404525.1_Missense_Mutation_p.G844D|LTBP1_ENST00000272273.5_Missense_Mutation_p.G163D|LTBP1_ENST00000390003.4_Missense_Mutation_p.G898D|LTBP1_ENST00000407925.1_Missense_Mutation_p.G897D|LTBP1_ENST00000354476.3_Missense_Mutation_p.G1224D|LTBP1_ENST00000418533.2_Missense_Mutation_p.G897D|LTBP1_ENST00000402934.1_Missense_Mutation_p.G844D			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1223	EGF-like 12; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AACACAGAGGGTTCTTTCCAT	0.403000													29	51					0	0	0.009535	0	0
IMPG2	50939	broad.mit.edu	37	3	100964916	100964916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:100964916C>T	ENST00000193391.7	-	12	1460	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	425					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATGGATTCATCTGCTGAGGGC	0.423000													35	69					0	0	0.004878	0	0
GLRA1	2741	broad.mit.edu	37	5	151208544	151208544	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:151208544T>C	ENST00000274576.4	-	8	1289	c.997A>G	c.(997-999)Aac>Gac	p.N333D	GLRA1_ENST00000545569.1_Missense_Mutation_p.N250D|GLRA1_ENST00000455880.2_Missense_Mutation_p.N333D	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	333					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GACACAAAGTTAACGGCAGCA	0.507000													73	132					0	0	0.014410	0	0
GSDMB	55876	broad.mit.edu	37	17	38061141	38061141	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:38061141C>T	ENST00000394175.2	-	8	1332	c.1109G>A	c.(1108-1110)cGa>cAa	p.R370Q	GSDMB_ENST00000360317.3_Missense_Mutation_p.R392Q|GSDMB_ENST00000309481.7_Missense_Mutation_p.R379Q|GSDMB_ENST00000520542.1_Missense_Mutation_p.R383Q|GSDMB_ENST00000418519.1_Missense_Mutation_p.R392Q|GSDMB_ENST00000394179.1_Missense_Mutation_p.R387Q	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	387						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						ACAGAGAATTCGTGCCTCAGG	0.532000													26	57					0	0	0.003330	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62637807	62637807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr10:62637807G>A	ENST00000337910.5	-	8	1922	c.1585C>T	c.(1585-1587)Ccg>Tcg	p.P529S	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.P529S	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	529	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TTTATGTTCGGGAGATACACC	0.403000													23	25					0	0	0.003954	0	0
CYP4F11	57834	broad.mit.edu	37	19	16024617	16024617	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:16024617C>T	ENST00000402119.3	-	12	1926	c.1500G>A	c.(1498-1500)agG>agA	p.R500R	CYP4F11_ENST00000248041.7_Silent_p.R500R|CYP4F11_ENST00000326742.7_3'UTR	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	500					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GCTCGGGTTTCCTGCGGGGTT	0.637000													15	24					0	0	0.002450	0	0
TNN	63923	broad.mit.edu	37	1	175086135	175086135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:175086135C>T	ENST00000239462.4	+	10	2293	c.2180C>T	c.(2179-2181)tCc>tTc	p.S727F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	727	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCACTGTCTCCTGGGACCCG	0.547000													45	98					0	0	0.014410	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279510	73279510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:73279510C>T	ENST00000320531.2	+	2	296	c.260C>T	c.(259-261)cCc>cTc	p.P87L		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	87						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				ATACAGGTCCCCGTATGGCTG	0.692000													64	50					0	0	0.014410	0	0
SLC35A4	113829	broad.mit.edu	37	5	139946858	139946858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:139946858C>T	ENST00000514199.1	+	2	1790	c.104C>T	c.(103-105)cCa>cTa	p.P35L	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000508770.1_3'UTR|SLC35A4_ENST00000323146.3_Missense_Mutation_p.P35L			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	35	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCATGCCCCATTGCTGGCA	0.637000													31	74					0	0	0.007291	0	0
NCAM1	4684	broad.mit.edu	37	11	113111537	113111537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:113111537C>T	ENST00000401611.2	+	16	1867	c.1867C>T	c.(1867-1869)Cca>Tca	p.P623S	NCAM1_ENST00000533760.1_Intron|NCAM1_ENST00000316851.7_Intron|NCAM1_ENST00000397957.4_Intron			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	348	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TACCCCTGTTCCATTGTCTCC	0.423000													81	120					0	0	0.014410	0	0
STXBP5L	9515	broad.mit.edu	37	3	121100199	121100199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:121100199G>A	ENST00000273666.6	+	23	2750	c.2479G>A	c.(2479-2481)Gat>Aat	p.D827N	STXBP5L_ENST00000471454.1_Missense_Mutation_p.D803N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D801N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D827N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D803N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	827					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TATTGACAAAGATTCTAAAGA	0.363000													68	92					0	0	0.014410	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965963	88965963	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:88965963T>A	ENST00000333190.4	+	4	4276	c.3667T>A	c.(3667-3669)Tta>Ata	p.L1223I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1223						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTCTGCTTCCTTAAGTTCTCA	0.468000										HNSCC(36;0.09)			48	179					0	0	0.014410	0	0
TENM4	26011	broad.mit.edu	37	11	78497944	78497944	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:78497944G>A	ENST00000278550.7	-	16	2826	c.2365_splice	c.e16+1	p.I788_splice		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CCGCCATACCGATGGTGCAGT	0.667000													3	7					0	0	0.009096	0	0
SUCO	51430	broad.mit.edu	37	1	172544683	172544683	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:172544683C>T	ENST00000367723.3	+	11	1784	c.1660C>T	c.(1660-1662)Ctg>Ttg	p.L554L	SUCO_ENST00000263688.3_Silent_p.L395L	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		GTGGATTAAGCTGGGTACTTT	0.299000													18	26					0	0	0.010504	0	0
OR6C75	390323	broad.mit.edu	37	12	55759590	55759590	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:55759590G>A	ENST00000343399.3	+	1	696	c.696G>A	c.(694-696)agG>agA	p.R232R		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TGAGTCAAAGGAAAAAAGCCT	0.398000													24	57					0	0	0.003954	0	0
PLXNB3	5365	broad.mit.edu	37	X	153041612	153041612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:153041612C>T	ENST00000538966.1	+	28	5012	c.4741C>T	c.(4741-4743)Caa>Taa	p.Q1581*	PLXNB3_ENST00000538776.1_Nonsense_Mutation_p.Q1211*|PLXNB3_ENST00000361971.5_Nonsense_Mutation_p.Q1558*	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1558					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTGTTGGACCAAGTCTACAA	0.677000													3	11					0	0	0.004672	0	0
SPACA3	124912	broad.mit.edu	37	17	31322664	31322664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:31322664G>A	ENST00000580599.1	+	3	474	c.65G>A	c.(64-66)gGt>gAt	p.G22D	SPACA3_ENST00000269053.3_Missense_Mutation_p.G91D|SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000394637.2_3'UTR			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	91					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			AAGCTCTACGGTCGTTGTGAA	0.622000													19	16					0	0	0.007413	0	0
CACNA1D	776	broad.mit.edu	37	3	53736796	53736796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:53736796C>T	ENST00000288139.3	+	9	1467	c.1349C>T	c.(1348-1350)cCg>cTg	p.P450L	CACNA1D_ENST00000350061.5_Missense_Mutation_p.P450L|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P450L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	450					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GACATCGATCCGGAGAATGAG	0.542000													16	28					0	0	0.006122	0	0
ADCY8	114	broad.mit.edu	37	8	131848648	131848648	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr8:131848648G>A	ENST00000286355.5	-	12	4642	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	ADCY8_ENST00000377928.3_Silent_p.F719F	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	850					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCAGCCGGAGGAAAACTGCAC	0.547000										HNSCC(32;0.087)			17	38					0	0	0.006122	0	0
DMBX1	127343	broad.mit.edu	37	1	46976783	46976783	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:46976783C>T	ENST00000371956.4	+	3	540	c.525C>T	c.(523-525)ccC>ccT	p.P175P	DMBX1_ENST00000360032.3_Silent_p.P170P	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	175					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GCAGCGACCCCCCTGCTGAGC	0.677000													39	57					0	0	0.008740	0	0
HUWE1	10075	broad.mit.edu	37	X	53576162	53576162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:53576162C>T	ENST00000342160.3	-	66	10250	c.9793G>A	c.(9793-9795)Gag>Aag	p.E3265K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E3265K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3265					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGACGGTTCTCATGGCTACTT	0.527000													64	128					0	0	0.014410	0	0
PVR	5817	broad.mit.edu	37	19	45157173	45157173	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:45157173C>T	ENST00000425690.3	+	4	1028	c.729C>T	c.(727-729)ccC>ccT	p.P243P	PVR_ENST00000406449.4_Silent_p.P243P|PVR_ENST00000344956.4_Silent_p.P243P|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Silent_p.P243P	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	243					adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CTGCAGACCCCCCAGAGGTAT	0.587000													106	204					0	0	0.014410	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033702	52033702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:52033702C>T	ENST00000425629.3	-	4	897	c.743G>A	c.(742-744)gGa>gAa	p.G248E	SIGLEC6_ENST00000346477.3_Intron|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.G248E|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.G237E|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.G259E|SIGLEC6_ENST00000436458.1_Intron	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	248	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGCGCTGTTTCCTTGGAAGAT	0.572000													17	35					0	0	0.006122	0	0
BCL9L	283149	broad.mit.edu	37	11	118773750	118773750	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:118773750G>A	ENST00000334801.3	-	5	1747	c.783C>T	c.(781-783)gaC>gaT	p.D261D	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	261					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CGAGGATGGAGTCGGCCCGGC	0.682000													8	6					0	0	0.003080	0	0
ZMYND15	84225	broad.mit.edu	37	17	4644107	4644107	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:4644107C>T	ENST00000433935.1	+	2	321	c.264C>T	c.(262-264)ctC>ctT	p.L88L	ZMYND15_ENST00000592813.1_Silent_p.L88L|ZMYND15_ENST00000573751.2_Silent_p.L88L|ZMYND15_ENST00000269289.6_Silent_p.L88L	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	88							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CTGCCTGGCTCCTGGGAGACA	0.627000													13	22					0	0	0.001855	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739710	46739710	+	Silent	SNP	T	T	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:46739710T>C	ENST00000306448.4	-	2	1254	c.141A>G	c.(139-141)caA>caG	p.Q47Q	ATP6V1E2_ENST00000522587.1_Silent_p.Q47Q	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	47					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTCGTTGGGTTTGCACGAGGC	0.458000													67	115					0	0	0.014410	0	0
KCNH8	131096	broad.mit.edu	37	3	19575403	19575403	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:19575403C>T	ENST00000328405.2	+	16	3402	c.3136C>T	c.(3136-3138)Ctc>Ttc	p.L1046F		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1046	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCACCTAGTTCTCCCAAGCAG	0.493000													41	67					0	0	0.006230	0	0
BRD1	23774	broad.mit.edu	37	22	50167905	50167905	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:50167905G>A	ENST00000216267.8	-	12	3639	c.3153C>T	c.(3151-3153)acC>acT	p.T1051T	BRD1_ENST00000404760.1_Silent_p.T1182T|BRD1_ENST00000542442.1_Silent_p.T739T|BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000342989.5_Silent_p.T777T|BRD1_ENST00000404034.1_Silent_p.T1051T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	1051					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGAGGTCGCTGGTCGGCTCCC	0.552000													79	141					0	0	0.014410	0	0
TPTE	7179	broad.mit.edu	37	21	10933861	10933861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr21:10933861C>T	ENST00000298232.7	-	16	1331	c.964G>A	c.(964-966)Gga>Aga	p.G322R	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.G340R|TPTE_ENST00000342420.5_Missense_Mutation_p.G302R	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	340	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTGTGCCTCCTTTACAGTGA	0.328000													50	339					0	0	0.014410	0	0
BAI3	577	broad.mit.edu	37	6	70071218	70071218	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:70071218G>T	ENST00000370598.1	+	29	4874	c.4053G>T	c.(4051-4053)atG>atT	p.M1351I	BAI3_ENST00000546190.1_Missense_Mutation_p.M315I|BAI3_ENST00000238918.8_Missense_Mutation_p.M557I	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1351					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATTCAATATGAATCCCCCTG	0.428000													35	37					9.17885e-22	9.49851e-22	0.003271	1	0
GALNT7	51809	broad.mit.edu	37	4	174213410	174213410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:174213410G>A	ENST00000265000.4	+	3	822	c.739G>A	c.(739-741)Gat>Aat	p.D247N	GALNT7_ENST00000512285.1_Missense_Mutation_p.D247N|GALNT7_ENST00000502407.1_3'UTR	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	247	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GTTAATTGACGATTTCAGTAA	0.318000													14	32					0	0	0.004007	0	0
DNAH5	1767	broad.mit.edu	37	5	13839514	13839514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:13839514C>T	ENST00000265104.4	-	35	5937	c.5833G>A	c.(5833-5835)Gaa>Aaa	p.E1945K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1945	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTAAAAATTCATTCTGGTAT	0.428000									Kartagener syndrome				33	61					0	0	0.004878	0	0
MUC16	94025	broad.mit.edu	37	19	9054252	9054252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:9054252G>A	ENST00000397910.4	-	4	31573	c.31370C>T	c.(31369-31371)tCg>tTg	p.S10457L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10459	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGGCAGGCGAAGTGGATGT	0.448000													4	11					0	0	0.009096	0	0
FSTL5	56884	broad.mit.edu	37	4	162307420	162307420	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:162307420G>A	ENST00000306100.5	-	16	2459	c.2023C>T	c.(2023-2025)Cca>Tca	p.P675S	FSTL5_ENST00000427802.2_Missense_Mutation_p.P665S|FSTL5_ENST00000379164.4_Missense_Mutation_p.P674S|FSTL5_ENST00000536695.1_Missense_Mutation_p.P674S|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	675						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATGACCTGTGGGGAAACTGCT	0.502000													27	47					0	0	0.008361	0	0
EPAS1	2034	broad.mit.edu	37	2	46607834	46607834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:46607834C>T	ENST00000263734.3	+	12	2533	c.2023C>T	c.(2023-2025)Cat>Tat	p.H675Y		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	675					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTCTCCACCCCATGTCTCCAC	0.592000													30	119					0	0	0.004878	0	0
SLC25A24	29957	broad.mit.edu	37	1	108690945	108690945	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:108690945A>G	ENST00000565488.1	-	7	1105	c.886T>C	c.(886-888)Tcc>Ccc	p.S296P	SLC25A24_ENST00000370041.4_Missense_Mutation_p.S277P	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	296					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CCAGCCATGGAACCAGAAATA	0.373000													43	92					0	0	0.013114	0	0
KRT34	3885	broad.mit.edu	37	17	39537454	39537454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:39537454C>T	ENST00000394001.1	-	3	598	c.568G>A	c.(568-570)Gag>Aag	p.E190K		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	190	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AGGGACTGCTCCGTCTGGTAC	0.542000													30	51					0	0	0.008361	0	0
PKD1L2	114780	broad.mit.edu	37	16	81253798	81253798	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:81253798C>A	ENST00000599697.1	-	1	177	c.178G>T	c.(178-180)Gga>Tga	p.G60*	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	60	C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAATGGCCTCCTTGCCCCTCG	0.547000													29	15					2.61193e-14	2.68572e-14	0.009535	1	0
PAK7	57144	broad.mit.edu	37	20	9546702	9546702	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:9546702G>A	ENST00000378429.3	-	6	1866	c.1320C>T	c.(1318-1320)gtC>gtT	p.V440V	PAK7_ENST00000353224.5_Silent_p.V440V|PAK7_ENST00000378423.1_Silent_p.V440V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	440	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTCCTGGGCTGACCACCAGCT	0.617000													50	65					0	0	0.014410	0	0
KIAA1468	57614	broad.mit.edu	37	18	59911997	59911997	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr18:59911997G>A	ENST00000256858.6	+	11	1869	c.1620_splice	c.e11-1	p.E541_splice	KIAA1468_ENST00000398130.2_Splice_Site_p.E541_splice			Q9P260	K1468_HUMAN	KIAA1468	541							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ATTTCTTTAGGAGTTGATCCC	0.358000													22	40					0	0	0.003954	0	0
SENP2	59343	broad.mit.edu	37	3	185307941	185307941	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:185307941C>T	ENST00000296257.5	+	2	381	c.141C>T	c.(139-141)gcC>gcT	p.A47A	SENP2_ENST00000427465.2_5'UTR|SENP2_ENST00000545472.1_Silent_p.A37A|SENP2_ENST00000465201.1_3'UTR	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	47					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AAATACCAGCCAAAAGACCAA	0.254000													12	26					0	0	0.004990	0	0
RASD2	23551	broad.mit.edu	37	22	35943045	35943045	+	Silent	SNP	C	C	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:35943045C>G	ENST00000216127.4	+	2	831	c.189C>G	c.(187-189)cgC>cgG	p.R63R		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	63					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						ACAACATCCGCGGCGACATGT	0.597000													22	41					0	0	0.012319	0	0
GUCY2C	2984	broad.mit.edu	37	12	14792859	14792859	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:14792859G>A	ENST00000261170.3	-	19	2230	c.2094C>T	c.(2092-2094)tcC>tcT	p.S698S		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	698	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TCATTCCATTGGAATTTTCCA	0.378000													30	61					0	0	0.003755	0	0
OR5T1	390155	broad.mit.edu	37	11	56043654	56043654	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:56043654C>T	ENST00000313033.2	+	1	626	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GCCTGTCCTTCTGTGGATCCA	0.418000													78	163					0	0	0.014410	0	0
DAGLB	221955	broad.mit.edu	37	7	6465718	6465718	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:6465718G>A	ENST00000297056.6	-	7	1126	c.957C>T	c.(955-957)gaC>gaT	p.D319D	DAGLB_ENST00000436575.1_Silent_p.D278D|DAGLB_ENST00000421761.2_Silent_p.D63D|DAGLB_ENST00000425398.2_Silent_p.D190D|DAGLB_ENST00000428902.2_Silent_p.D192D	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	319					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CTCCGACCAAGTCATAGTCTG	0.532000													32	82					0	0	0.012213	0	0
LOC101928517	101928517	broad.mit.edu	37	19	51671441	51671441	+	RNA	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:51671441G>A	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							CTGTGAGCAGGGAACACCCCC	0.632000													28	56					0	0	0.005443	0	0
REL	5966	broad.mit.edu	37	2	61149089	61149089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:61149089C>T	ENST00000295025.7	+	11	1599	c.1279C>T	c.(1279-1281)Cca>Tca	p.P427S	REL_ENST00000394479.3_Missense_Mutation_p.P395S	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	427					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CAATACAAACCCACTGAGTAG	0.473000			A		Hodgkin Lymphoma								28	49					0	0	0.006320	0	0
FIGF	2277	broad.mit.edu	37	X	15373285	15373285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:15373285G>A	ENST00000297904.3	-	4	1057	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	210					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TCTTCTTCAGGGATCTGGATG	0.383000													37	92					0	0	0.007835	0	0
ABCC6	368	broad.mit.edu	37	16	16272784	16272784	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:16272784G>A	ENST00000205557.7	-	18	2315	c.2286C>T	c.(2284-2286)agC>agT	p.S762S		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	762	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CCCGGGCCAGGCTCAGCCGCT	0.607000													12	37					0	0	0.013537	0	0
ZNF43	7594	broad.mit.edu	37	19	21991700	21991700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:21991700C>T	ENST00000594012.1	-	7	1635	c.1121G>A	c.(1120-1122)aGc>aAc	p.S374N	ZNF43_ENST00000595461.1_Missense_Mutation_p.S374N|ZNF43_ENST00000598381.1_Missense_Mutation_p.S374N|ZNF43_ENST00000354959.4_Missense_Mutation_p.S380N	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGAGGACCGGCTAAAAGCTTC	0.368000													22	50					0	0	0.012319	0	0
MAB21L1	4081	broad.mit.edu	37	13	36050131	36050131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr13:36050131C>T	ENST00000379919.4	-	1	701	c.145G>A	c.(145-147)Gag>Aag	p.E49K	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	49					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		AACCGCGGCTCCTGCACTTCC	0.512000													90	76					0	0	0.014410	0	0
SLPI	6590	broad.mit.edu	37	20	43882316	43882316	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:43882316T>A	ENST00000338380.2	-	2	164	c.144A>T	c.(142-144)aaA>aaT	p.K48N		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	48	Trypsin inhibitory domain.|WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GGCACTCAGGTTTCTTGTATC	0.502000													28	51					0	0	0.009535	0	0
TBC1D24	57465	broad.mit.edu	37	16	2550412	2550412	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr16:2550412C>T	ENST00000567020.1	+	6	1568	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000434757.2_Silent_p.F482F|TBC1D24_ENST00000293970.5_Silent_p.F482F	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	482	TLD.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCTCGCCCTTCCTGGCCGCTC	0.697000													7	7					0	0	0.001984	0	0
AKR1B1	231	broad.mit.edu	37	7	134134532	134134532	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:134134532G>A	ENST00000285930.4	-	4	448	c.369C>T	c.(367-369)ttC>ttT	p.F123F	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	123					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	CATCCAATGGGAAAAATTCCT	0.468000													125	113					0	0	0.014410	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83359608	83359608	+	Silent	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:83359608A>G	ENST00000262752.2	-	17	1520	c.1513T>C	c.(1513-1515)Tta>Cta	p.L505L	RPS6KA6_ENST00000543399.1_Silent_p.L505L|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	505	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CGGTCAAGTAACTCTCCTCCT	0.328000													13	33					0	0	0.004990	0	0
DUOX1	53905	broad.mit.edu	37	15	45428573	45428573	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:45428573C>G	ENST00000321429.4	+	9	1297	c.890C>G	c.(889-891)cCc>cGc	p.P297R	DUOX1_ENST00000389037.3_Missense_Mutation_p.P297R	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	297	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	p.P297R(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GAGTGGCTGCCCAGCTTCCTG	0.632000													3	44					0	0	0.001984	0	0
SLC27A1	376497	broad.mit.edu	37	19	17611209	17611209	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:17611209G>A	ENST00000252595.7	+	8	1426	c.1329G>A	c.(1327-1329)caG>caA	p.Q443Q	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Silent_p.Q443Q|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000598424.1_Silent_p.Q264Q	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	443	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCCCCTGCCAGGCCGGTGAGC	0.692000													15	34					0	0	0.003330	0	0
HIRA	7290	broad.mit.edu	37	22	19344421	19344421	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr22:19344421G>A	ENST00000263208.5	-	19	2644	c.2388C>T	c.(2386-2388)ctC>ctT	p.L796L	HIRA_ENST00000546308.1_Silent_p.L752L|HIRA_ENST00000541063.1_Silent_p.L752L|HIRA_ENST00000340170.4_Intron	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	796	Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					ACCAGACAGAGAGTGTGGCTG	0.642000													20	37					0	0	0.007413	0	0
SPTBN2	6712	broad.mit.edu	37	11	66457550	66457550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:66457550C>T	ENST00000533211.1	-	28	6101	c.5770G>A	c.(5770-5772)Gat>Aat	p.D1924N	SPTBN2_ENST00000309996.2_Missense_Mutation_p.D1924N|SPTBN2_ENST00000529997.1_Missense_Mutation_p.D1924N			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1924					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TTGACCTCATCCATCCAGAGC	0.632000													58	86					0	0	0.014410	0	0
SYNE1	23345	broad.mit.edu	37	6	152792854	152792854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:152792854C>T	ENST00000367255.5	-	16	2111	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K	SYNE1_ENST00000265368.4_Missense_Mutation_p.E504K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E511K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E504K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E504K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E511K|SYNE1_ENST00000495090.2_Missense_Mutation_p.E71K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E504K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E511K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E494K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	504					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)		TCTAAAAATTCCATTTTCATT	0.378000										HNSCC(10;0.0054)			33	30					0	0	0.003755	0	0
RP11-1407O15.2	0	broad.mit.edu	37	17	36357250	36357250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:36357250G>A	ENST00000312412.4	-	9	1002	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	TBC1D3_ENST00000537432.1_5'UTR|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.P180S																kidney(1)|lung(3)	4						GAATTTTTTGGATCAATAAGC	0.358000													4	29					0	0	0.000602	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291015	141291015	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:141291015C>T	ENST00000247452.3	-	3	1106	c.759G>A	c.(757-759)ctG>ctA	p.L253L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	253	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CTACTGCATTCAGCACTTCCC	0.512000										HNSCC(46;0.14)			89	139					0	0	0.014410	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149213137	149213137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:149213137G>A	ENST00000309241.5	+	5	1533	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.E462K|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.E437K|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.E501K	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	501					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGTCCCCTCGGAGCCCCAAGG	0.662000													3	8					0	0	0.000602	0	0
SLC6A6	6533	broad.mit.edu	37	3	14520675	14520675	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:14520675C>G	ENST00000454876.2	+	13	1862	c.1533C>G	c.(1531-1533)atC>atG	p.I511M	SLC6A6_ENST00000360861.3_Missense_Mutation_p.I511M			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	511					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GGGCTGTGATCACTCCAGTTC	0.522000													28	53					0	0	0.006320	0	0
ACVRL1	94	broad.mit.edu	37	12	52308264	52308264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:52308264G>A	ENST00000550683.1	+	5	810	c.709G>A	c.(709-711)Ggt>Agt	p.G237S	ACVRL1_ENST00000419526.2_Missense_Mutation_p.G49S|ACVRL1_ENST00000388922.4_Missense_Mutation_p.G223S	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	223	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CTTGTGGCACGGTGAGAGTGT	0.567000													9	22					0	0	0.006214	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42390514	42390514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:42390514G>A	ENST00000426726.3	+	3	540	c.266G>A	c.(265-267)gGg>gAg	p.G89E	AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000590941.1_Missense_Mutation_p.G84E|RUNDC3A_ENST00000225441.7_Missense_Mutation_p.G89E	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	89	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGCTCAGACGGGCAGCGGGGC	0.612000													21	44					0	0	0.014323	0	0
DPCR1	135656	broad.mit.edu	37	6	30919832	30919832	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:30919832C>T	ENST00000462446.1	+	2	3619	c.3591C>T	c.(3589-3591)acC>acT	p.T1197T	DPCR1_ENST00000304311.2_Silent_p.T39T|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	321						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CCATATGCACCAAAGGGAAAA	0.468000													59	53					0	0	0.014410	0	0
ZNF12	7559	broad.mit.edu	37	7	6730593	6730593	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:6730593G>A	ENST00000405858.1	-	5	2521	c.1980C>T	c.(1978-1980)ccC>ccT	p.P660P	ZNF12_ENST00000404360.1_Silent_p.P586P|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Silent_p.P622P	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	660					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TACACTCATAGGGTTTCTCTC	0.388000													24	69					0	0	0.003330	0	0
MAB21L3	126868	broad.mit.edu	37	1	116666729	116666729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:116666729G>A	ENST00000369500.3	+	4	497	c.232G>A	c.(232-234)Ggc>Agc	p.G78S	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	78										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						CCCAATAAAAGGCCTGGCCGG	0.582000													47	68					0	0	0.014410	0	0
SAGE1	55511	broad.mit.edu	37	X	134983803	134983803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:134983803C>T	ENST00000535938.1	+	3	340	c.173C>T	c.(172-174)tCa>tTa	p.S58L	SAGE1_ENST00000370709.3_Missense_Mutation_p.S58L|SAGE1_ENST00000537770.1_Missense_Mutation_p.S58L|SAGE1_ENST00000324447.3_Missense_Mutation_p.S58L	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	58										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AGACACTCTTCATCTAAGAGA	0.418000													106	132					0	0	0.014410	0	0
SF1	7536	broad.mit.edu	37	11	64535117	64535117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr11:64535117G>A	ENST00000377390.3	-	10	1605	c.1268C>T	c.(1267-1269)cCt>cTt	p.P423L	SF1_ENST00000433274.2_Missense_Mutation_p.P397L|SF1_ENST00000422298.2_Missense_Mutation_p.P308L|SF1_ENST00000334944.5_Missense_Mutation_p.P423L|SF1_ENST00000377394.3_Missense_Mutation_p.P423L|SF1_ENST00000377387.1_Missense_Mutation_p.P548L|SF1_ENST00000227503.9_Missense_Mutation_p.P423L	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	423	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CTGCATCCAAGGGGGTGGGGG	0.632000											OREG0021062	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	62					0	0	0.003954	0	0
AMOTL2	51421	broad.mit.edu	37	3	134086550	134086550	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:134086550G>A	ENST00000514516.1	-	3	1182	c.1004C>T	c.(1003-1005)cCa>cTa	p.P335L	AMOTL2_ENST00000249883.5_Missense_Mutation_p.P277L|AMOTL2_ENST00000422605.2_Missense_Mutation_p.P277L|AMOTL2_ENST00000513145.1_Missense_Mutation_p.P277L	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	277										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GAGAGCAGCTGGATGTGGGGG	0.667000													16	20					0	0	0.004007	0	0
DAB2	1601	broad.mit.edu	37	5	39382768	39382768	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:39382768G>A	ENST00000545653.1	-	9	1760	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	DAB2_ENST00000320816.6_Silent_p.I431I|DAB2_ENST00000509337.1_Silent_p.I410I|DAB2_ENST00000339788.6_Intron	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	431					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GTGGAGGTGGGATAATGGCTA	0.488000													34	63					0	0	0.010818	0	0
KIAA1755	85449	broad.mit.edu	37	20	36846738	36846738	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:36846738G>A	ENST00000279024.4	-	12	2858	c.2587C>T	c.(2587-2589)Cgg>Tgg	p.R863W		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	863										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGCAGGCACCGCCTTCCTTCC	0.577000													26	25					0	0	0.003954	0	0
SMOC1	64093	broad.mit.edu	37	14	70459140	70459140	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:70459140G>A	ENST00000381280.4	+	6	786	c.533G>A	c.(532-534)gGg>gAg	p.G178E	SMOC1_ENST00000361956.3_Missense_Mutation_p.G178E	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	178					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.G178E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TCAGATGACGGGTCTAAGCCG	0.443000													18	24					0	0	0.014323	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198277	170198277	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:170198277G>A	ENST00000231706.4	-	7	2109	c.1794C>T	c.(1792-1794)atC>atT	p.I598I	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	598						integral to membrane	amino acid transmembrane transporter activity	p.I598I(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CAACCAGAAGGATGGCCCACC	0.537000													25	35					0	0	0.003954	0	0
TCEAL8	90843	broad.mit.edu	37	X	102508793	102508793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:102508793C>T	ENST00000372685.3	-	3	351	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	TCEAL8_ENST00000360000.4_Missense_Mutation_p.E39K	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN	transcription elongation factor A (SII)-like 8	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|lung(1)|ovary(1)	4						ACGCCTTCTTCGGAAGGTTGA	0.532000													64	102					0	0	0.014410	0	0
NYAP1	222950	broad.mit.edu	37	7	100091298	100091298	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:100091298C>T	ENST00000423930.1	+	7	2460	c.2301C>T	c.(2299-2301)ccC>ccT	p.P767P	NYAP1_ENST00000300179.2_Silent_p.P766P|NYAP1_ENST00000454988.1_Silent_p.P710P|NYAP1_ENST00000496985.1_3'UTR			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	766																	TGCCTCTGCCCCTGCCGCCCC	0.731000													17	4					0	0	0.006122	0	0
MYO5C	55930	broad.mit.edu	37	15	52540959	52540959	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:52540959A>T	ENST00000261839.7	-	14	1845	c.1684T>A	c.(1684-1686)Ttc>Atc	p.F562I	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	562	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTCTCCAGGAAACCTTCACAT	0.368000													25	38					0	0	0.004656	0	0
CHD3	1107	broad.mit.edu	37	17	7807809	7807809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:7807809C>T	ENST00000380358.4	+	25	4122	c.4121C>T	c.(4120-4122)cCt>cTt	p.P1374L	CHD3_ENST00000330494.7_Missense_Mutation_p.P1315L|CHD3_ENST00000358181.4_Missense_Mutation_p.P1315L	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1315					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AATGTGGACCCTGACTACTGG	0.507000													23	46					0	0	0.014323	0	0
PADI6	353238	broad.mit.edu	37	1	17698840	17698840	+	RNA	SNP	T	T	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:17698840T>G	ENST00000434762.2	+	0	150							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CACAGAAATCTGCTTGGATCT	0.612000													43	50					0	0	0.010771	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111766811	111766811	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:111766811A>G	ENST00000452346.2	+	7	959	c.956A>G	c.(955-957)tAc>tGc	p.Y319C	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.Y193C			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	319	CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGCATCTTGTACAGGTACGAT	0.438000													25	44					0	0	0.006320	0	0
DENND2A	27147	broad.mit.edu	37	7	140301368	140301368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:140301368C>T	ENST00000275884.6	-	2	1247	c.830G>A	c.(829-831)gGa>gAa	p.G277E	DENND2A_ENST00000492720.1_Missense_Mutation_p.G277E|DENND2A_ENST00000537639.1_Missense_Mutation_p.G277E|DENND2A_ENST00000496613.1_Missense_Mutation_p.G277E			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	277										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GTCCCCTTCTCCGGCATGTTT	0.577000													70	203					0	0	0.014410	0	0
GKN1	56287	broad.mit.edu	37	2	69207869	69207869	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:69207869C>T	ENST00000377938.2	+	6	577	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	172					digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						AGAGGCAAGCCTGTTTTTTTA	0.408000													24	32					0	0	0.005443	0	0
GATA1	2623	broad.mit.edu	37	X	48652280	48652280	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:48652280G>A	ENST00000376670.3	+	6	1062	c.951G>A	c.(949-951)cgG>cgA	p.R317R	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	317					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						AAAAGAAACGGGGCTCCAGTC	0.592000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								12	11					0	0	0.001855	0	0
CDHR2	54825	broad.mit.edu	37	5	176011254	176011254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr5:176011254G>A	ENST00000510636.1	+	18	2396	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N	CDHR2_ENST00000506348.1_Missense_Mutation_p.D708N|CDHR2_ENST00000261944.5_Missense_Mutation_p.D708N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	708	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GAAGGAGGAGGATCCAGGTAT	0.562000													16	38					0	0	0.004990	0	0
GDPD2	54857	broad.mit.edu	37	X	69649817	69649817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:69649817G>A	ENST00000453994.2	+	12	1572	c.1211G>A	c.(1210-1212)gGa>gAa	p.G404E	GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000536730.1_Missense_Mutation_p.G325E|GDPD2_ENST00000538649.1_Missense_Mutation_p.G325E|GDPD2_ENST00000374382.3_Missense_Mutation_p.G404E	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	404	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CGGGCACCTGGAATGCGCCAG	0.517000													26	38					0	0	0.004656	0	0
C15orf43	145645	broad.mit.edu	37	15	45258395	45258395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:45258395G>A	ENST00000340827.3	+	5	405	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	130								p.E130K(1)		NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		GACCCTTAGGGAAAACAGTGA	0.318000													11	19					0	0	0.001855	0	0
ADCY10	55811	broad.mit.edu	37	1	167849779	167849779	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr1:167849779C>T	ENST00000367848.1	-	10	1310	c.813G>A	c.(811-813)ctG>ctA	p.L271L	ADCY10_ENST00000367851.4_Silent_p.L363L|ADCY10_ENST00000545172.1_Silent_p.L210L			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	363					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TAGCACATTCCAGAGCATGAG	0.522000													29	51					0	0	0.007291	0	0
BAG6	7917	broad.mit.edu	37	6	31607322	31607322	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:31607322G>A	ENST00000404765.2	-	25	3637	c.3348C>T	c.(3346-3348)agC>agT	p.S1116S	BAG6_ENST00000439687.2_Intron|BAG6_ENST00000375976.4_Silent_p.S1080S|BAG6_ENST00000362049.6_Intron|BAG6_ENST00000211379.5_Silent_p.S1080S|BAG6_ENST00000375964.6_Silent_p.S1086S			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	1086					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCAGGTCCCGGCTCAGGCTCT	0.657000													117	79					0	0	0.014410	0	0
SLC25A10	1468	broad.mit.edu	37	17	79671404	79671404	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr17:79671404C>T	ENST00000571730.1	+	2	336	c.205C>T	c.(205-207)Cag>Tag	p.Q69*	MRPL12_ENST00000333676.3_Nonsense_Mutation_p.Q69*|SLC25A10_ENST00000541223.1_Nonsense_Mutation_p.Q69*			Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	GCAGCTGGTCCAGGACATCGC	0.592000													11	21					0	0	0.010729	0	0
NUP188	23511	broad.mit.edu	37	9	131742986	131742986	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr9:131742986G>A	ENST00000372577.2	+	14	1392	c.1371G>A	c.(1369-1371)ggG>ggA	p.G457G		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	457					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGGTATCAGGGAAGTCCACAG	0.458000													32	19					0	0	0.004878	0	0
VASH1	22846	broad.mit.edu	37	14	77242550	77242550	+	Silent	SNP	G	G	A			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:77242550G>A	ENST00000167106.4	+	5	1479	c.846G>A	c.(844-846)gtG>gtA	p.V282V	VASH1_ENST00000556038.1_3'UTR|RP11-488C13.6_ENST00000556368.1_RNA	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	282					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		TGCTGGACGTGGAGCGCCTGG	0.682000													8	21					0	0	0.010729	0	0
LARP6	55323	broad.mit.edu	37	15	71124496	71124496	+	Silent	SNP	C	C	T			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr15:71124496C>T	ENST00000299213.8	-	3	1441	c.1371G>A	c.(1369-1371)aaG>aaA	p.K457K		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	457					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CAGTCTGCATCTTCCGGGAGA	0.647000													26	124					0	0	0.013726	0	0
MALL	7851	broad.mit.edu	37	2	110873312	110873312	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:110873312delC	ENST00000272462.2	-	1	831	c.58delG	c.(58-60)tcfs	p.V20fs	MALL_ENST00000427178.1_Frame_Shift_Del_p.V20fs	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	20					cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		AACAGCGCGACCCCCGAGGGC	0.746													2	4	---	---	---	---					
HDAC4	9759	broad.mit.edu	37	2	240036880	240036881	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr2:240036880_240036881delCC	ENST00000345617.3	-	13	2435_2436	c.1644_1645delGG	c.(1642-1647)aaagfs	p.KE548fs	HDAC4_ENST00000541256.1_Frame_Shift_Del_p.KE522fs|HDAC4_ENST00000543185.1_Frame_Shift_Del_p.KE132fs	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	548					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCGTGCGCCTCCTTCTGCCCCG	0.713													47	37	---	---	---	---					
SCAP	22937	broad.mit.edu	37	3	47461107	47461110	+	Frame_Shift_Del	DEL	TCTG	TCTG	-			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr3:47461107_47461110delTCTG	ENST00000265565.5	-	13	2060_2063	c.1648_1651delCAGA	c.(1648-1653)gcfs	p.QS550fs	SCAP_ENST00000545718.1_Frame_Shift_Del_p.QS158fs|SCAP_ENST00000441517.2_Frame_Shift_Del_p.QS295fs	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	550					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCCAATGGGCTCTGTTCCGTCACC	0.652													19	56	---	---	---	---					
UVSSA	57654	broad.mit.edu	37	4	1373970	1373970	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:1373970delT	ENST00000389851.4	+	11	2151	c.1704delT	c.(1702-1704)cgfs	p.R568fs	UVSSA_ENST00000512728.1_Frame_Shift_Del_p.R119fs|UVSSA_ENST00000511563.1_Frame_Shift_Del_p.R119fs|UVSSA_ENST00000511216.1_Frame_Shift_Del_p.R568fs|UVSSA_ENST00000507531.1_Frame_Shift_Del_p.R568fs	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	568																	ACTGGTGCCGTGCCCCGAGGC	0.677													13	33	---	---	---	---					
CENPU	79682	broad.mit.edu	37	4	185655201	185655202	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr4:185655201_185655202insC	ENST00000281453.5	-	1	85_86	c.15_16insG	c.(13-18)ggggcgfs	p.A6fs	MLF1IP_ENST00000541971.1_Frame_Shift_Ins_p.A6fs	NM_024629.3	NP_078905.2	Q71F23	CENPU_HUMAN		6					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		ggccgccgccgcccccgcgggg	0.738													3	3	---	---	---	---					
HIST1H1E	3008	broad.mit.edu	37	6	26156687	26156687	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr6:26156687delG	ENST00000304218.3	+	1	129	c.69delG	c.(67-69)aafs	p.K23fs		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	23					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						TGAAGAAGAAGGCCCGCAAGT	0.652													37	135	---	---	---	---					
ASIC3	9311	broad.mit.edu	37	7	150748929	150748929	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr7:150748929delA	ENST00000357922.4	+	7	1841	c.1247delA	c.(1246-1248)ggfs	p.E416fs	ASIC3_ENST00000297512.8_Frame_Shift_Del_p.E416fs|ASIC3_ENST00000349064.5_Frame_Shift_Del_p.E416fs	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	416					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										ATCTTCTTTGAGGCCCTCAAC	0.612													31	114	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46245312	46245312	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr12:46245312delC	ENST00000334344.6	+	15	3578	c.3406delC	c.(3406-3408)ccfs	p.P1136fs	ARID2_ENST00000422737.1_Frame_Shift_Del_p.P987fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.P746fs|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1136					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGCAATGCCACCCTCAGGGGG	0.507			"""N, S, F"""		hepatocellular carcinoma								47	98	---	---	---	---					
MYH7	4625	broad.mit.edu	37	14	23901706	23901706	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr14:23901706delT	ENST00000355349.3	-	6	674	c.512delA	c.(511-513)acfs	p.N171fs		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	171	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GATGGACTGGTTTTCTCTGTC	0.597													36	51	---	---	---	---					
ZNF224	7767	broad.mit.edu	37	19	44612231	44612231	+	Frame_Shift_Del	DEL	A	A	-	rs3746319	byFrequency	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:44612231delA	ENST00000336976.6	+	6	2172	c.1918delA	c.(1918-1920)aafs	p.K640fs	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	640			K -> E (in dbSNP:rs3746319).		negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TTCATTCTCTAAAGTGCAAGA	0.458													27	71	---	---	---	---					
ZNF528-AS1	102724105	broad.mit.edu	37	19	52896073	52896074	+	RNA	DEL	TA	TA	-			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr19:52896073_52896074delTA	ENST00000601562.1	-	0	784																											GTGGAAGCTGTATATATATATA	0.460													4	6	---	---	---	---					
FRG1B	284802	broad.mit.edu	37	20	29628226	29628226	+	Splice_Site	DEL	G	G	-	rs78710112	by1000genomes	TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chr20:29628226delG	ENST00000278882.3	+	6	608		c.e6-1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTTCACTTAGGGGAAAATGG	0.358													10	248	---	---	---	---					
ARHGAP6	395	broad.mit.edu	37	X	11162261	11162288	+	Frame_Shift_Del	DEL	TTGTTGTCATAAGGGGAGATGTCTCCGC	TTGTTGTCATAAGGGGAGATGTCTCCGC	-			TCGA-EE-A3AF-06A-11D-A196-08	TCGA-EE-A3AF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e58eec67-7f63-4d6b-be04-9aede79e6f39	9ed906a6-2fe5-4725-918a-b6a211b4a267	g.chrX:11162261_11162288delTTGTTGTCATAAGGGGAGATGTCTCCGC	ENST00000337414.4	-	11	2860_2887	c.1988_2015delGCGGAGACATCTCCCCTTATGACAACAA	c.(1987-2016)acfs	p.SGDISPYDNN663fs	ARHGAP6_ENST00000380736.1_Frame_Shift_Del_p.SGDISPYDNN460fs|ARHGAP6_ENST00000303025.6_Frame_Shift_Del_p.SGDISPYDNN460fs|ARHGAP6_ENST00000413512.3_3'UTR|ARHGAP6_ENST00000380718.1_Frame_Shift_Del_p.SGDISPYDNN663fs|ARHGAP6_ENST00000534860.1_Frame_Shift_Del_p.SGDISPYDNN488fs	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	663					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CACTGGGGAGTTGTTGTCATAAGGGGAGATGTCTCCGCTGGAGGCCTT	0.566											OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	103	---	---	---	---