Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RELN	5649	broad.mit.edu	37	7	103155840	103155840	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:103155840G>A	uc022ajr.1	-	49	8071	c.7911C>T	c.(7909-7911)cgC>cgT	p.R2637R	RELN_uc022ajq.1_Silent_p.R2637R|RELN_uc010liz.3_Silent_p.R2637R	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2637					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACCAGCGGAAGCGAGTGGCAA	0.502000														30			13		0	0	0.013537	0	0
BRD4	23476	broad.mit.edu	37	19	15350486	15350487	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:15350486_15350487GG>AA	uc002nar.3	-	15	3650_3651	c.3428_3429CC>TT	c.(3427-3429)ccc>cTT	p.P1143L		NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	1143					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCAGGTGGACGGGGGCCTTGAT	0.683000			T	C15orf55	lethal midline carcinoma of young people									11			24		0	0	0.004672	0	0
AMICA1	120425	broad.mit.edu	37	11	118081352	118081353	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:118081352_118081353CC>TT	uc001psk.2	-	3	447_448	c.273_274GG>AA	c.(271-276)atgggg>atAAgg	p.91_92MG>IR	AMICA1_uc001psh.2_Missense_Mutation_p.52_53MG>IR|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Missense_Mutation_p.81_82MG>IR|AMICA1_uc010rxw.1_Missense_Mutation_p.52_53MG>IR|AMICA1_uc010rxx.1_Missense_Mutation_p.91_92MG>IR|AMICA1_uc001psl.1_Missense_Mutation_p.47_48MG>IR	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	91	Ig-like V-type 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		p.S90Y(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AAGATGTCCCCCATCAAGTGTA	0.500000														23			35		0	0	0.004672	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128873232	128873232	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:128873232C>T	uc004eut.1	+	0	287	c.43C>T	c.(43-45)Ctc>Ttc	p.L15F	XPNPEP2_uc011mum.2_Missense_Mutation_p.L15F	NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	15					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GCTGGTCCTCCTCTGTGGTAT	0.637000														22			40		0	0	0.011902	0	0
GALNT6	11226	broad.mit.edu	37	12	51751232	51751232	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:51751232G>A	uc001ryk.2	-	8	1728	c.1503C>T	c.(1501-1503)atC>atT	p.I501I	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Silent_p.I501I|GALNT6_uc001ryj.1_Silent_p.I66I	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	501	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CGAGGTTCTTGATCTGCAGAA	0.587000														24			24		0	0	0.005443	0	0
PTGES2	80142	broad.mit.edu	37	9	130887690	130887690	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:130887690G>A	uc004bti.3	-	1	788	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	PTGES2_uc004btk.3_5'UTR|PTGES2_uc004btl.3_5'UTR	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN	Homo sapiens prostaglandin E synthase 2 (PTGES2), transcript variant 1, mRNA.	104	Glutaredoxin.				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(2)	4						TACTGGTACAGGGTCAGCTGC	0.647000														39			15		0	0	0.004007	0	0
CELSR3	1951	broad.mit.edu	37	3	48686246	48686246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:48686246C>T	uc003cuf.1	-	19	6893	c.6893G>A	c.(6892-6894)cGa>cAa	p.R2298Q	CELSR3_uc010hkg.3_Missense_Mutation_p.R211Q|CELSR3_uc003cul.3_Missense_Mutation_p.R2228Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2228					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCAGTGACTCGAACATCTTG	0.602000														33			17		0	0	0.006122	0	0
CD44	960	broad.mit.edu	37	11	35236416	35236416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:35236416C>T	uc001mvu.3	+	14	2262	c.1828C>T	c.(1828-1830)Cac>Tac	p.H610Y	CD44_uc021qfw.1_Missense_Mutation_p.H229Y|CD44_uc001mvv.3_Missense_Mutation_p.H567Y|CD44_uc001mvw.3_Missense_Mutation_p.H361Y|CD44_uc001mwc.4_Missense_Mutation_p.H297Y|CD44_uc001mvx.3_Missense_Mutation_p.H229Y|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Non-coding_Transcript|CD44_uc010reu.2_Missense_Mutation_p.H138Y|CD44_uc010res.2_Missense_Mutation_p.H174Y|CD44_uc010ret.2_Non-coding_Transcript	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	610	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	Golgi apparatus|cell surface|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	AGACACATTCCACCCCAGTGG	0.418000														27			16		0	0	0.004990	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377538	125377538	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:125377538C>T	uc011lyy.2	+	0	522	c.522C>T	c.(520-522)atC>atT	p.I174I		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I174F(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						ATAACAGAATCCCCCACTTCT	0.483000														78			47		0	0	0.014410	0	0
NAALADL2	254827	broad.mit.edu	37	3	174814891	174814891	+	Missense_Mutation	SNP	C	T	T	rs141784446	by1000genomes	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:174814891C>T	uc003fit.3	+	1	442	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	NAALADL2_uc003fiu.1_Missense_Mutation_p.R112C	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	119					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AAAGAGCAATCGCTGCAACTT	0.383000														14			43		0	0	0.010771	0	0
CFH	3075	broad.mit.edu	37	1	196883788	196883788	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:196883788C>T	uc001gtp.3	+	7	1481	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Silent_p.F447F|CFH_uc001gto.3_Silent_p.F201F	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	789	Sushi 8.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGTCCCATTTCCCAACATGTT	0.333000														24			4		0	0	0.009096	0	0
NR3C2	4306	broad.mit.edu	37	4	149357223	149357223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:149357223G>A	uc003ilj.4	-	1	1153	c.790C>T	c.(790-792)Ccg>Tcg	p.P264S	NR3C2_uc003ilk.4_Missense_Mutation_p.P264S|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	264	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CTACTTAACGGACTTGAGAGA	0.502000														52			37		0	0	0.005524	0	0
VN1R2	317701	broad.mit.edu	37	19	53762534	53762534	+	Silent	SNP	T	C	C	rs113115189	byFrequency	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:53762534T>C	uc002qbi.2	+	0	990	c.906T>C	c.(904-906)aaT>aaC	p.N302N		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	302					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GTAGGAACAATCTCTACCCCA	0.493000														29			55		0	0	0.014410	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748891	43748891	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:43748891G>A	uc001zrs.3	-	11	2048	c.1900C>T	c.(1900-1902)Cga>Tga	p.R634*	TP53BP1_uc010udp.2_Nonsense_Mutation_p.R634*|TP53BP1_uc001zrq.4_Nonsense_Mutation_p.R639*|TP53BP1_uc001zrr.4_Nonsense_Mutation_p.R639*|TP53BP1_uc010udq.1_Nonsense_Mutation_p.R639*	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	634					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			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)		GCCTCAGATCGAGTAGCTGGT	0.483000								Other conserved DNA damage response genes						56			40		0	0	0.006230	0	0
MUC16	94025	broad.mit.edu	37	19	9082508	9082508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:9082508C>T	uc002mkp.3	-	0	9511	c.9307G>A	c.(9307-9309)Gaa>Aaa	p.E3103K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3104	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						GTTCCCTCTTCTTCTGCAATG	0.493000														38			108		0	0	0.014410	0	0
MAGI2	9863	broad.mit.edu	37	7	77789394	77789394	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:77789394G>A	uc003ugx.3	-	15	3047	c.2793C>T	c.(2791-2793)ttC>ttT	p.F931F	MAGI2_uc003ugy.3_Silent_p.F917F|MAGI2_uc010ldx.1_Silent_p.F524F	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	931	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding	p.G930G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGACAAAGCCGAAGCCCTCAT	0.517000														37			20		0	0	0.010504	0	0
TARBP2	6895	broad.mit.edu	37	12	53895946	53895946	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:53895946C>T	uc001sdo.3	+	1	689	c.201C>T	c.(199-201)acC>acT	p.T67T	MAP3K12_uc001sdm.2_5'Flank|MAP3K12_uc001sdn.2_5'Flank|TARBP2_uc009znb.3_Silent_p.T67T|TARBP2_uc001sdp.3_Silent_p.T46T|TARBP2_uc001sdr.3_5'UTR|TARBP2_uc001sdt.3_Silent_p.T46T	NM_134323	NP_599151	Q15633	TRBP2_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 2 (TARBP2), transcript variant 1, mRNA.	67	DRBM 1.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol|nucleus|perinuclear region of cytoplasm	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						TCCGGGTCACCGTTGGCGACA	0.572000														23			13		0	0	0.002450	0	0
NUP210	23225	broad.mit.edu	37	3	13381751	13381751	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:13381751G>A	uc003bxv.1	-	23	3359	c.3276C>T	c.(3274-3276)atC>atT	p.I1092I		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1092					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCGTGGCCCCGATAAGCAGTG	0.642000														24			25		0	0	0.009535	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807905	18807905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:18807905G>A	uc001bax.3	+	0	482	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	KLHDC7A_uc009vpg.3_5'UTR	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	144						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCAGCCAGGAAACCAGAAC	0.632000														25			17		0	0	0.007413	0	0
UBAC2	337867	broad.mit.edu	37	13	99890808	99890808	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr13:99890808G>A	uc010tiu.2	+	2	643	c.308_splice	c.e2+1	p.R103_splice	UBAC2_uc001voa.4_Splice_Site_p.Q53_splice|UBAC2_uc001vob.4_Splice_Site_p.S103_splice|UBAC2_uc010tiv.2_Splice_Site|UBAC2_uc001vod.3_Splice_Site|UBAC2_uc001voc.3_Splice_Site_p.S95_splice|UBAC2_uc010tiw.2_Splice_Site|MIR548AN_uc021rly.1_Intron	NM_177967	NP_808882	Q8NBM4	UBAC2_HUMAN	Homo sapiens UBA domain containing 2 (UBAC2), transcript variant 2, mRNA.	81						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACGACTTCCAGGTAAGCTCTG	0.527000														154			86		0	0	0.014410	0	0
OR5V1	81696	broad.mit.edu	37	6	29323094	29323094	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:29323094C>T	uc011dlo.2	-	0	961	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293R(2)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTCCTTATTCCTCAATGTGT	0.403000														46			50		0	0	0.014410	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634072	70634072	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:70634072G>A	uc001xly.3	-	1	1822	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	SLC8A3_uc001xlw.3_Silent_p.I356I|SLC8A3_uc001xlx.3_Silent_p.I356I|SLC8A3_uc001xlz.3_Silent_p.I356I|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	356					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAGTGGCTTGGATACGGTAGA	0.507000														57			33		0	0	0.013726	0	0
ZNF407	55628	broad.mit.edu	37	18	72346877	72346877	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr18:72346877C>T	uc002llw.2	+	0	3955	c.3902C>T	c.(3901-3903)cCc>cTc	p.P1301L	ZNF407_uc010xfc.2_Missense_Mutation_p.P1301L|ZNF407_uc010dqu.2_Missense_Mutation_p.P1301L|ZNF407_uc002llu.2_Missense_Mutation_p.P1300L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAAGAAGATCCCGTTCTGGGG	0.448000														18			8		0	0	0.003080	0	0
IL7R	3575	broad.mit.edu	37	5	35874551	35874551	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:35874551G>A	uc003jjs.3	+	6	796	c.707_splice	c.e6-1	p.G236_splice	IL7R_uc011coo.2_Intron|IL7R_uc011cop.2_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	236					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGCTTTCCAGGGGAGATGGAT	0.453000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							46			16		0	0	0.004007	0	0
SSFA2	6744	broad.mit.edu	37	2	182763783	182763783	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:182763783G>A	uc002uoi.3	+	5	769	c.447G>A	c.(445-447)caG>caA	p.Q149Q	SSFA2_uc002uoh.3_Silent_p.Q149Q|SSFA2_uc002uoj.3_Silent_p.Q149Q|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_5'UTR|SSFA2_uc002uol.3_5'UTR	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	149						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AGTTTCATCAGAAAGGGAGAA	0.323000														26			15		0	0	0.007413	0	0
OR51S1	119692	broad.mit.edu	37	11	4870000	4870000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:4870000C>T	uc010qyo.2	-	0	439	c.439G>A	c.(439-441)Ggt>Agt	p.G147S		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G147A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTAATTACACCATTGGTGAGG	0.552000														69			52		0	0	0.014410	0	0
GFRA3	2676	broad.mit.edu	37	5	137593408	137593408	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:137593408G>A	uc003lcn.3	-	3	845	c.705C>T	c.(703-705)atC>atT	p.I235I	GFRA3_uc003lco.3_Silent_p.I204I	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	235					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)			AGTTGGGGGCGATGGTGTTGC	0.697000														14			18		0	0	0.006122	0	0
DNAH5	1767	broad.mit.edu	37	5	13900349	13900349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:13900349C>T	uc003jfd.2	-	14	2267	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	742	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)					GTATCTATCTCGTTTCTGGAA	0.388000									Kartagener syndrome					35			17		0	0	0.006122	0	0
ADAM22	53616	broad.mit.edu	37	7	87795214	87795214	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:87795214T>C	uc003ujn.3	+	23	2359	c.2144T>C	c.(2143-2145)tTc>tCc	p.F715S	ADAM22_uc003ujk.2_Missense_Mutation_p.F715S|ADAM22_uc003ujl.2_Missense_Mutation_p.F715S|ADAM22_uc003ujm.3_Missense_Mutation_p.F715S|ADAM22_uc003ujo.3_Missense_Mutation_p.F715S|ADAM22_uc003ujp.1_Missense_Mutation_p.F767S	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	715					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AACACTTACTTCCCTCACAAT	0.383000														41			33		0	0	0.003755	0	0
FGFR3	2261	broad.mit.edu	37	4	1807557	1807557	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:1807557G>A	uc003gdr.3	+	12	1982	c.1726G>A	c.(1726-1728)Gac>Aac	p.D576N	FGFR3_uc003gdu.2_Missense_Mutation_p.D578N|FGFR3_uc003gds.3_Missense_Mutation_p.D464N|FGFR3_uc003gdq.3_Missense_Mutation_p.D577N	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	576	Protein kinase.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	cccgggccTGGACTACTCCTT	0.682000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					12			24		0	0	0.010818	0	0
CADPS2	93664	broad.mit.edu	37	7	122114563	122114563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:122114563G>A	uc022akp.1	-	11	2280	c.1858C>T	c.(1858-1860)Cgt>Tgt	p.R620C	CADPS2_uc003vkg.4_Missense_Mutation_p.R321C|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Missense_Mutation_p.R621C|CADPS2_uc022akr.1_Missense_Mutation_p.R624C	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	624					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTCTGAAAACGATCTGCATCT	0.378000														17			11		0	0	0.008291	0	0
TTYH1	57348	broad.mit.edu	37	19	54946739	54946739	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:54946739G>A	uc002qfr.3	+	10	1265	c.1143G>A	c.(1141-1143)ctG>ctA	p.L381L	TTYH1_uc010yey.2_Missense_Mutation_p.A412T|TTYH1_uc002qfq.3_Silent_p.L381L|TTYH1_uc002qft.3_Silent_p.L381L	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN	Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA.	381					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GTGCAGCCCTGCGGGGCCTGT	0.667000														7			24		0	0	0.003330	0	0
NSL1	25936	broad.mit.edu	37	1	212912027	212912027	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:212912027G>A	uc001hjn.3	-	6	602	c.568_splice	c.e6-1	p.S190_splice	NSL1_uc001hjm.3_Splice_Site|NSL1_uc010pti.2_Splice_Site_p.S149_splice	NM_015471	NP_056286	Q96IY1	NSL1_HUMAN	Homo sapiens NSL1, MIND kinetochore complex component, homolog (S. cerevisiae) (NSL1), transcript variant 1, mRNA.	190					cell division|chromosome segregation|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		TGCAGGCAAGGACTTCAAACA	0.373000														10			9		0	0	0.006214	0	0
BRD1	23774	broad.mit.edu	37	22	50192641	50192641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr22:50192641C>T	uc011arg.2	-	3	1827	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	BRD1_uc011arf.2_Missense_Mutation_p.E146K|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.E551K|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.E551K	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	551	Bromo.				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)		CCCACCTGCTCACGCTTGAGC	0.692000														22			8		0	0	0.004482	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039644	36039644	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:36039644G>A	uc003jjz.2	-	4	1142	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L	UGT3A2_uc011cos.2_Missense_Mutation_p.P303L|UGT3A2_uc011cot.2_Missense_Mutation_p.P35L	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	337						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GACATCTTTGGGCCAATGAGA	0.517000														53			44		0	0	0.014410	0	0
ZNF136	7695	broad.mit.edu	37	19	12298788	12298788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:12298788C>T	uc002mti.3	+	3	1742	c.1595C>T	c.(1594-1596)cCt>cTt	p.P532L	ZNF136_uc010xmh.2_Missense_Mutation_p.P466L	NM_003437	NP_003428	P52737	ZN136_HUMAN	Homo sapiens zinc finger protein 136 (ZNF136), mRNA.	532					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						GATGGACCACCTTATAAATGC	0.428000														13			22		0	0	0.012319	0	0
EPPK1	83481	broad.mit.edu	37	8	144946401	144946401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:144946401C>T	uc003zaa.1	-	0	1034	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	341						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)			CTGACTGCCTCGTCTACCCAC	0.692000														40			17		0	0	0.004007	0	0
RGS7	6000	broad.mit.edu	37	1	240966207	240966207	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:240966207T>A	uc001hyt.2	-	8	906	c.852A>T	c.(850-852)aaA>aaT	p.K284N	RGS7_uc010pyh.2_Missense_Mutation_p.K426N|RGS7_uc010pyj.1_Missense_Mutation_p.K368N|RGS7_uc001hyu.2_Missense_Mutation_p.K452N|RGS7_uc009xgn.1_Missense_Mutation_p.K399N|RGS7_uc001hyv.2_Missense_Mutation_p.K452N|RGS7_uc001hyw.2_Missense_Mutation_p.K452N	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	452	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	p.L283L(1)		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)			CCAGTACCTTTTTCTTTGCCT	0.358000														55			59		0	0	0.014410	0	0
IL33	90865	broad.mit.edu	37	9	6241783	6241783	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:6241783G>A	uc003zjt.3	+	1	167	c.89G>A	c.(88-90)gGa>gAa	p.G30E	IL33_uc011lmg.2_Missense_Mutation_p.G30E|IL33_uc011lmh.2_Missense_Mutation_p.G30E|IL33_uc022bdf.1_Missense_Mutation_p.G30E	NM_033439	NP_254274	O95760	IL33_HUMAN	Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.	30					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		TTCAAGCTGGGAAGTAAGGAC	0.323000														13			7		0	0	0.001984	0	0
C6orf221	154288	broad.mit.edu	37	6	74072839	74072839	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:74072839C>T	uc003pgt.4	+	1	244	c.191C>T	c.(190-192)cCg>cTg	p.P64L		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	64	KH; atypical.									NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						GAACGCATCCCGCACGTCCAG	0.612000														20			39		0	0	0.006999	0	0
TNXB	7148	broad.mit.edu	37	6	32029401	32029401	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:32029401G>A	uc003nzl.2	-	20	7467	c.7265C>T	c.(7264-7266)tCc>tTc	p.S2422F		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2482	Fibronectin type-III 16.				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						GTCAGGGGAGGATCCTGTCAC	0.677000														225			131		0	0	0.014410	0	0
NPY5R	4889	broad.mit.edu	37	4	164271808	164271808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:164271808C>T	uc003iqn.3	+	3	565	c.383C>T	c.(382-384)tCa>tTa	p.S128L	NPY5R_uc021xtw.1_Missense_Mutation_p.S128L	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	128					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GTTTTGGTTTCAACTTTAATT	0.358000														128			52		0	0	0.014410	0	0
TANC2	26115	broad.mit.edu	37	17	61498089	61498089	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:61498089C>T	uc002jal.4	+	24	4769	c.4746C>T	c.(4744-4746)tcC>tcT	p.S1582S	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Silent_p.S693S	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1582							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTCCATTATCCAAAATGGCCC	0.547000														29			20		0	0	0.008871	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118335	118335	+	RNA	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrGL000205.1:118335G>A	uc002kgk.4	+	0		c.1713G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGGCTCCAGGAGGACTTCTG	0.542000														32			8		0	0	0.004482	0	0
XIRP2	129446	broad.mit.edu	37	2	168107738	168107738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:168107738C>T	uc002udx.3	+	8	9925	c.9836C>T	c.(9835-9837)tCc>tTc	p.S3279F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S3104F|XIRP2_uc010fpq.3_Missense_Mutation_p.S3057F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3104					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						GGACTAAATTCCACTGATCAC	0.463000														30			25		0	0	0.005443	0	0
SCN10A	6336	broad.mit.edu	37	3	38755538	38755538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:38755538C>T	uc003ciq.3	-	20	3715	c.3715G>A	c.(3715-3717)Gaa>Aaa	p.E1239K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1239					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCAGAATATTCCAGAATCTTC	0.522000														110			41		0	0	0.009718	0	0
CNKSR2	22866	broad.mit.edu	37	X	21581385	21581385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:21581385G>A	uc004czx.2	+	12	1903	c.1423G>A	c.(1423-1425)Gaa>Aaa	p.E475K	CNKSR2_uc004czw.3_Missense_Mutation_p.E475K|CNKSR2_uc011mjn.2_Missense_Mutation_p.E426K|CNKSR2_uc011mjo.2_Missense_Mutation_p.E445K|CNKSR2_uc004czy.3_Missense_Mutation_p.E67K	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	475	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TATGAGCAATGAAAAGATTGC	0.328000														33			19		0	0	0.008871	0	0
SVEP1	79987	broad.mit.edu	37	9	113208240	113208240	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:113208240G>A	uc010mtz.3	-	25	4677	c.4340C>T	c.(4339-4341)tCt>tTt	p.S1447F	SVEP1_uc010mua.1_Missense_Mutation_p.S1447F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1447	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGCATGGAGAGATGGGAGCAT	0.433000														39			25		0	0	0.003330	0	0
OR5R1	219479	broad.mit.edu	37	11	56185691	56185691	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:56185691G>A	uc010rji.2	-	0	18	c.18C>T	c.(16-18)atC>atT	p.I6I	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TGACATAAATGATATTAACTT	0.393000														80			40		0	0	0.008740	0	0
COL2A1	1280	broad.mit.edu	37	12	48372397	48372397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:48372397C>T	uc001rqu.3	-	41	3059	c.2878G>A	c.(2878-2880)Gga>Aga	p.G960R	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.G891R	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	960	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCGTCATCTCCAGGCTCTCCC	0.652000														22			21		0	0	0.010504	0	0
HOXD10	3236	broad.mit.edu	37	2	176981980	176981980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:176981980C>T	uc002ukj.3	+	0	489	c.419C>T	c.(418-420)cCc>cTc	p.P140L		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	140						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GAGTCTTGTCCCGTTGAGAAC	0.507000														105			71		0	0	0.014410	0	0
FAM118B	79607	broad.mit.edu	37	11	126124266	126124266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:126124266C>T	uc009zca.3	+	6	953	c.646C>T	c.(646-648)Cct>Tct	p.P216S	FAM118B_uc001qdf.3_Missense_Mutation_p.P212S	NM_024556	NP_078832	Q9BPY3	F118B_HUMAN	Homo sapiens family with sequence similarity 118, member B (FAM118B), mRNA.	212										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		CTACACCAACCCTAGTGGCAT	0.532000														18			31		0	0	0.012213	0	0
PXDNL	137902	broad.mit.edu	37	8	52370162	52370162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:52370162C>T	uc003xqu.4	-	8	979	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	293	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCTGGTGTTTCGGATCATGAG	0.428000														93			62		0	0	0.014410	0	0
SNAP25	6616	broad.mit.edu	37	20	10286835	10286835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:10286835G>A	uc002wnq.2	+	7	823	c.611G>A	c.(610-612)gGa>gAa	p.G204E	SNAP25_uc002wnr.2_Missense_Mutation_p.G204E|SNAP25_uc002wns.2_Missense_Mutation_p.G141E|SNAP25_uc010gca.2_Missense_Mutation_p.G204E	NM_130811	NP_570824	P60880	SNP25_HUMAN	Homo sapiens synaptosomal-associated protein, 25kDa (SNAP25), transcript variant 2, mRNA.	204					energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	AAGATGCTGGGAAGTGGTTAA	0.468000														29			8		0	0	0.003080	0	0
MAP3K9	4293	broad.mit.edu	37	14	71197414	71197414	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:71197414T>A	uc001xmm.3	-	11	2998	c.2998A>T	c.(2998-3000)Aac>Tac	p.N1000Y	MAP3K9_uc010ttk.2_Missense_Mutation_p.N728Y|MAP3K9_uc001xmk.3_Missense_Mutation_p.N733Y|MAP3K9_uc001xml.3_Missense_Mutation_p.N1014Y	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	1000					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CGTTGCCGGTTGGCAGAAGGA	0.637000														50			22		0	0	0.004656	0	0
FGL2	10875	broad.mit.edu	37	7	76825931	76825931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:76825931G>A	uc003ugb.3	-	1	1025	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	329	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						ACGTGTAAACGATATTTGAGA	0.358000														59			30		0	0	0.007291	0	0
GAB4	128954	broad.mit.edu	37	22	17468949	17468950	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr22:17468949_17468950GG>AA	uc002zlw.3	-	2	694_695	c.586_587CC>TT	c.(586-588)ccc>TTc	p.P196F	GAB4_uc010gqs.1_Missense_Mutation_p.P179F	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	196										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AGACACCGGGGGCTCAGATGTG	0.634000														50			29		0	0	0.004672	0	0
MGAM	8972	broad.mit.edu	37	7	141758028	141758028	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:141758028C>G	uc003vwy.3	+	30	3773	c.3719C>G	c.(3718-3720)cCt>cGt	p.P1240R		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1240	Glucoamylase.				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)	GTGATGGTACCTTACTGGTCT	0.443000														326			137		0	0	0.014410	0	0
GAD1	2571	broad.mit.edu	37	2	171687659	171687659	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:171687659C>T	uc002ugi.3	+	4	926	c.504C>T	c.(502-504)atC>atT	p.I168I	GAD1_uc002ugh.3_Silent_p.I168I	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	168					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGGAGCAGATCCTGGTTGACT	0.557000														50			49		0	0	0.014410	0	0
TCRA	0	broad.mit.edu	37	14	22466140	22466141	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:22466140_22466141GG>AA	uc001wcp.2	+	1	99_100	c.70_71GG>AA	c.(70-72)gga>AAa	p.G24K	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Missense_Mutation_p.G24K|TCRA_uc001wcr.1_5'UTR|TCRA_uc001wcs.1_5'UTR|TCRA_uc010ajf.1_5'UTR|TCRA_uc010tmm.2_Intron|TCRA_uc001wcq.3_Missense_Mutation_p.G24K|TCRA_uc010ajd.1_Missense_Mutation_p.G24K					Homo sapiens TRA mRNA for T cell receptor alpha chain, partial cds, allele:TRAV19*01+TRAJ53*01.																		CAGTCAACAGGGAGAAGAGGAT	0.426000														14			10		0	0	0.004672	0	0
EDNRB	1910	broad.mit.edu	37	13	78492623	78492623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr13:78492623C>T	uc001vkp.1	-	1	509	c.356G>A	c.(355-357)aGa>aAa	p.R119K	BX647243_uc001vks.3_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.R29K|EDNRB_uc001vko.2_Missense_Mutation_p.R29K|EDNRB_uc010aez.1_Missense_Mutation_p.R29K	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	29					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)	CGGGAAGCCTCTCTCCTCTCC	0.627000											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			21		0	0	0.012319	0	0
TTN	7273	broad.mit.edu	37	2	179569693	179569693	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:179569693C>T	uc021vsy.1	-	101	26098	c.25873_splice	c.e101-1	p.E8625_splice	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Splice_Site_p.E5286_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9552	Ig-like 69.						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)			TCCTCAATTTCCTGAGAAGAA	0.373000														72			53		0	0	0.014410	0	0
OR4K1	79544	broad.mit.edu	37	14	20404348	20404348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:20404348G>A	uc001vwj.2	+	0	582	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CAATGAGGTGGATAGCTTCTT	0.453000														159			43		0	0	0.014410	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718278	103718278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr13:103718278C>T	uc001vpy.4	-	0	919	c.322G>A	c.(322-324)Gga>Aga	p.G108R		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	108					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCAGTTCCTCCAGGGCAGCAT	0.507000														58			24		0	0	0.014323	0	0
THEMIS	387357	broad.mit.edu	37	6	128134804	128134804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:128134804G>A	uc011ebt.2	-	3	1131	c.982C>T	c.(982-984)Cct>Tct	p.P328S	THEMIS_uc010kfa.3_Missense_Mutation_p.P231S|THEMIS_uc021zfa.1_Missense_Mutation_p.P328S|THEMIS_uc010kfb.3_Missense_Mutation_p.P293S	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	328	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGTCTTTTAGGAAAATTGCTT	0.458000														17			39		0	0	0.006230	0	0
CCR8	1237	broad.mit.edu	37	3	39374694	39374694	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:39374694C>T	uc010hhr.2	+	1	1010	c.872C>T	c.(871-873)aCt>aTt	p.T291I	CCR8_uc003cjm.2_Missense_Mutation_p.T208I|CCR8_uc021wwe.1_Missense_Mutation_p.T291I	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	291					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ATTTCCTTTACTCACTGCTGT	0.418000														32			40		0	0	0.010771	0	0
EDA2R	60401	broad.mit.edu	37	X	65824906	65824906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:65824906C>T	uc004dwt.2	-	1	260	c.250G>A	c.(250-252)Ggg>Agg	p.G84R	EDA2R_uc004dwr.3_Missense_Mutation_p.G84R|EDA2R_uc004dws.3_Missense_Mutation_p.G84R|EDA2R_uc011mpb.2_Non-coding_Transcript|EDA2R_uc011mpc.2_Intron|EDA2R_uc004dwq.3_Missense_Mutation_p.G84R|EDA2R_uc022byh.1_Missense_Mutation_p.G84R	NM_001242310	NP_001229239	Q9HAV5	TNR27_HUMAN	Homo sapiens ectodysplasin A2 receptor (EDA2R), transcript variant 3, mRNA.	84					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AAACAGTCCCCACAGACAGCA	0.507000														10			7		0	0	0.003080	0	0
CCDC80	151887	broad.mit.edu	37	3	112358255	112358255	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:112358255G>A	uc003dzf.3	-	1	716	c.498C>T	c.(496-498)ctC>ctT	p.L166L	CCDC80_uc011bhv.2_Silent_p.L166L|CCDC80_uc003dzg.3_Silent_p.L166L|CCDC80_uc003dzh.1_Silent_p.L166L	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	166										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGCTCATCATGAGGCGGTAGT	0.572000														8			25		0	0	0.005443	0	0
OR52B4	143496	broad.mit.edu	37	11	4388930	4388930	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:4388930C>A	uc010qye.2	-	0	687	c.596G>T	c.(595-597)tGg>tTg	p.W199L		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAACCCATACCAAATGTTTAT	0.363000														33			17		1.33834e-09	1.48739e-09	0.007413	1	0
COL4A5	1287	broad.mit.edu	37	X	107819142	107819142	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:107819142C>T	uc022ccg.1	+	9	751	c.549C>T	c.(547-549)ggC>ggT	p.G183G	COL4A5_uc004enz.1_Silent_p.G183G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	183	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TATAACAGGGCCTACCTGGTC	0.413000									Alport syndrome with Diffuse Leiomyomatosis					2			4		0	0	0.001984	0	0
XPO4	64328	broad.mit.edu	37	13	21375002	21375002	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr13:21375002A>G	uc001unq.4	-	13	1981	c.1945T>C	c.(1945-1947)Tat>Cat	p.Y649H		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	649					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ACCAGGAGATAAGTCTTTGCC	0.368000														78			57		0	0	0.014410	0	0
MYH1	4619	broad.mit.edu	37	17	10404792	10404792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:10404792C>T	uc002gmo.3	-	26	3467	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1125						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.E1124*(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCCTCGATTTCCTCCTCCAGC	0.542000														11			19		0	0	0.010504	0	0
PRODH	5625	broad.mit.edu	37	22	18904434	18904434	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr22:18904434T>C	uc002zok.4	-	12	1699	c.1495A>G	c.(1495-1497)Aat>Gat	p.N499D	PRODH_uc002zoj.4_Missense_Mutation_p.N389D|PRODH_uc002zol.4_Missense_Mutation_p.N391D	NM_016335	NP_057419	O43272	PROD_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 1 (PRODH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	499					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GTGTCCTCATTGTGGGAGGCC	0.622000														25			21		0	0	0.003330	0	0
KIAA1109	84162	broad.mit.edu	37	4	123280818	123280818	+	Silent	SNP	T	C	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:123280818T>C	uc003ieh.3	+	82	14787	c.14742T>C	c.(14740-14742)taT>taC	p.Y4914Y	KIAA1109_uc003iem.3_Silent_p.Y1270Y	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4914					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCATCACTTATACTACTGTGG	0.363000														43			25		0	0	0.004656	0	0
MGAM	8972	broad.mit.edu	37	7	141756713	141756713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:141756713C>T	uc003vwy.3	+	29	3718	c.3664C>T	c.(3664-3666)Cca>Tca	p.P1222S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1222	Glucoamylase.				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)	GGGGCCGACTCCAGAGCTTGT	0.483000														37			12		0	0	0.001855	0	0
TRPM5	29850	broad.mit.edu	37	11	2436411	2436411	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:2436411G>A	uc010qxl.2	-	8	1428	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	TRPM5_uc001lwm.4_Silent_p.F473F|TRPM5_uc009ydn.3_Silent_p.F475F	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	473						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CGTCCTGCAGGAAGTCCTTGA	0.751000														26			12		0	0	0.010729	0	0
EBF1	1879	broad.mit.edu	37	5	158523987	158523987	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:158523987C>T	uc010jip.3	-	1	588	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	EBF1_uc011ddw.2_5'Flank|EBF1_uc011ddx.2_Missense_Mutation_p.E96K|EBF1_uc003lxl.4_Missense_Mutation_p.E96K	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	96					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTACTTTTTCCTTCTCCACG	0.642000			T	HMGA2	lipoma									13			12		0	0	0.013537	0	0
CSTF1	1477	broad.mit.edu	37	20	54974330	54974330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:54974330C>T	uc002xxl.1	+	4	1153	c.953C>T	c.(952-954)tCt>tTt	p.S318F	CSTF1_uc002xxm.1_Missense_Mutation_p.S318F|CSTF1_uc002xxn.1_Missense_Mutation_p.S318F	NM_001033521	NP_001315	Q05048	CSTF1_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1), transcript variant 1, mRNA.	318					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TCCAAAAATTCTAAATACATT	0.393000														42			26		0	0	0.003330	0	0
ADRBK1	156	broad.mit.edu	37	11	67049402	67049402	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:67049402C>T	uc009yrn.1	+	10	1202	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	312	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	ACAACCGCTTCGTGGTCTACC	0.642000														52			23		0	0	0.004656	0	0
IL2RB	3560	broad.mit.edu	37	22	37524824	37524824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr22:37524824G>A	uc003aqv.1	-	9	1099	c.968C>T	c.(967-969)tCg>tTg	p.S323L		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	323					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TTCTAGTGGCGAGATCTCAGG	0.632000														29			19		0	0	0.010504	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761675	130761675	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:130761675G>A	uc003qcb.3	+	1	2486	c.108G>A	c.(106-108)gaG>gaA	p.E36E	TMEM200A_uc003qca.3_Silent_p.E36E|TMEM200A_uc010kfh.3_Silent_p.E36E|TMEM200A_uc010kfi.3_Silent_p.E36E|TMEM200A_uc021zfg.1_Silent_p.E36E	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	36						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTACCCAAGAGAAGAAGCCCA	0.537000														22			52		0	0	0.014410	0	0
ASCC3	10973	broad.mit.edu	37	6	101166119	101166119	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:101166119G>A	uc003pqk.3	-	11	2240	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S	ASCC3_uc011eai.1_Silent_p.S539S|ASCC3_uc003pql.3_Silent_p.S637S	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	637	Helicase ATP-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TACTCTGTGTGGATTCCACCT	0.299000														12			16		0	0	0.004990	0	0
PTH2R	5746	broad.mit.edu	37	2	209302496	209302496	+	Nonsense_Mutation	SNP	C	T	T	rs144936061		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:209302496C>T	uc010zjb.2	+	3	620	c.334C>T	c.(334-336)Cga>Tga	p.R112*	PTH2R_uc002vdb.3_Nonsense_Mutation_p.R101*	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	101						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AGTTGCTTTCCGACACTGTAA	0.383000														30			17		0	0	0.008871	0	0
LRP2BP	55805	broad.mit.edu	37	4	186291813	186291813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:186291813G>A	uc003ixj.2	-	6	1771	c.959C>T	c.(958-960)gCt>gTt	p.A320V	LRP2BP_uc003ixk.2_Missense_Mutation_p.A294V	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	Homo sapiens LRP2 binding protein (LRP2BP), mRNA.	320						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		ATAGTGTTTAGCGGTTGTTTC	0.438000														23			28		0	0	0.008361	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474800	140474800	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:140474800G>A	uc003lil.3	+	0	564	c.426G>A	c.(424-426)ttG>ttA	p.L142L	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	142	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTTTTGAAAATTCCAG	0.403000														20			17		0	0	0.004007	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013243	142013243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:142013243G>A	uc003vxg.3	+	1	127	c.98G>A	c.(97-99)gGa>gAa	p.G33E	TRBV2_uc011kro.1_Intron|TRBV4-1_uc022ana.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTGGTCATGGGAATGACAAAT	0.458000														28			19		0	0	0.012319	0	0
SH3RF2	153769	broad.mit.edu	37	5	145435759	145435759	+	Missense_Mutation	SNP	G	A	A	rs141349885	byFrequency	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:145435759G>A	uc003lnt.3	+	7	1776	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	SH3RF2_uc011dbl.1_Missense_Mutation_p.R513Q|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.3_5'UTR|SH3RF2_uc011dbn.1_5'UTR	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	513							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.R513Q(2)		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)			CGGAAAGGGCGGAGCAGCATG	0.552000														53			26		0	0	0.006320	0	0
ABCB1	5243	broad.mit.edu	37	7	87179319	87179319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:87179319C>T	uc003uiz.2	-	13	1895	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	ABCB1_uc011khc.2_Missense_Mutation_p.E404K	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	468	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R467W(4)|p.R467L(2)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCAATGATTTCCCGTAGAAAC	0.408000														62			35		0	0	0.013726	0	0
PARP10	84875	broad.mit.edu	37	8	145057635	145057635	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:145057635G>A	uc003zal.4	-	7	2230	c.2122C>T	c.(2122-2124)Cag>Tag	p.Q708*	PARP10_uc003zak.4_Nonsense_Mutation_p.Q405*|PARP10_uc011lku.2_Nonsense_Mutation_p.Q720*|PARP10_uc011lkv.2_Non-coding_Transcript|PARP10_uc003zam.2_Nonsense_Mutation_p.Q699*	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 10 (PARP10), mRNA.	708	Myc binding.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCACCAGCTGGGCCTTGCCA	0.687000														10			6		0	0	0.001168	0	0
MGAM	8972	broad.mit.edu	37	7	141755409	141755409	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:141755409C>T	uc003vwy.3	+	27	3420	c.3366C>T	c.(3364-3366)atC>atT	p.I1122I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1122	Glucoamylase.				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)	TTATCCGCATCTCCACCCGCC	0.483000														146			86		0	0	0.014410	0	0
TRHDE	29953	broad.mit.edu	37	12	72863581	72863581	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:72863581C>G	uc001sxa.3	+	3	1254	c.1224C>G	c.(1222-1224)aaC>aaG	p.N408K		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	408	Substrate binding (By similarity).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTATGGAGAACTGGGGACTAA	0.378000														46			32		0	0	0.004289	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					39			62		0	0	0.014410	0	0
SCN3A	6328	broad.mit.edu	37	2	166012375	166012375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:166012375C>T	uc002ucx.3	-	9	1562	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	SCN3A_uc002ucy.3_Missense_Mutation_p.R357Q|SCN3A_uc002ucz.3_Missense_Mutation_p.R357Q|SCN3A_uc002uda.1_Missense_Mutation_p.R226Q|SCN3A_uc002udb.1_Missense_Mutation_p.R226Q	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	357						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTTGGGGTTTCGACCAGCCTT	0.423000														59			30		0	0	0.010818	0	0
GRIA2	2891	broad.mit.edu	37	4	158256915	158256915	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:158256915C>T	uc003ipm.4	+	9	1818	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	GRIA2_uc011cit.2_Silent_p.I406I|GRIA2_uc003ipl.4_Silent_p.I453I|GRIA2_uc003ipk.4_Silent_p.I406I|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	453					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTGCAGAAATCGCCAAACATT	0.443000														12			13		0	0	0.002450	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62631971	62631971	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr10:62631971G>A	uc001jli.3	-	10	2331	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	RHOBTB1_uc009xpe.2_Silent_p.F569F|RHOBTB1_uc001jlh.3_Silent_p.F631F|RHOBTB1_uc001jlj.3_Silent_p.F631F|RHOBTB1_uc001jlk.3_Silent_p.F631F|RHOBTB1_uc009xpd.3_Intron	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	631					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)					TTTCCTTACGGAACTTGGAGC	0.483000														22			47		0	0	0.014410	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564531	66564531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr18:66564531G>A	uc002lkk.2	+	7	1352	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	CCDC102B_uc002lki.2_Missense_Mutation_p.E377K|CCDC102B_uc002lkj.1_Missense_Mutation_p.E377K	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	377										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GCAGGGACTGGAGAGAGAAAA	0.398000														66			50		0	0	0.014410	0	0
NKAP	79576	broad.mit.edu	37	X	119068486	119068486	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:119068486C>T	uc004esh.3	-	4	875	c.708G>A	c.(706-708)aaG>aaA	p.K236K	NKAP_uc004esg.3_Silent_p.K123K	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	Homo sapiens NFKB activating protein (NKAP), mRNA.	236	Lys-rich.|Necessary for interaction with CIR1.				Notch signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TTTCCTTTTTCTTGGCTTTCT	0.249000														17			13		0	0	0.004007	0	0
F2	2147	broad.mit.edu	37	11	46745042	46745042	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:46745042G>A	uc001ndf.4	+	5	576	c.533G>A	c.(532-534)aGg>aAg	p.R178K		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	178	Kringle 1.				STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	ACCGTGAGGAGGCAGGAATGC	0.657000														13			11		0	0	0.010729	0	0
PFKFB1	5207	broad.mit.edu	37	X	54978347	54978347	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:54978347G>A	uc004dty.1	-	7	908	c.837C>T	c.(835-837)cgC>cgT	p.R279R	PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Silent_p.R214R	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	279	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CCTGCTTGCCGCGAACTGAGA	0.592000														6			5		0	0	0.000602	0	0
DNAH2	146754	broad.mit.edu	37	17	7682565	7682565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:7682565G>A	uc002giu.1	+	34	5560	c.5546G>A	c.(5545-5547)gGa>gAa	p.G1849E		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1849	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCGCAGACTGGAGCTTGGGGC	0.572000														5			8		0	0	0.006214	0	0
RYR3	6263	broad.mit.edu	37	15	34130190	34130190	+	Silent	SNP	A	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:34130190A>G	uc001zhi.3	+	88	12079	c.12009A>G	c.(12007-12009)gaA>gaG	p.E4003E	RYR3_uc010bar.3_Silent_p.E3998E	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4003					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E4002K(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCTTTCTGAACACATGCCAA	0.448000														84			45		0	0	0.014410	0	0
OR8U8	504189	broad.mit.edu	37	11	56144011	56144011	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:56144011C>T	uc001nit.2	+	0	912	c.912C>T	c.(910-912)atC>atT	p.I304I		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TGAAGAAAATCATTATCAATA	0.333000														72			39		0	0	0.006230	0	0
TMEM223	79064	broad.mit.edu	37	11	62558255	62558255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:62558255G>A	uc001nve.2	-	1	469	c.449C>T	c.(448-450)cCt>cTt	p.P150L		NM_001080501	NP_001073970	A0PJW6	TM223_HUMAN	Homo sapiens transmembrane protein 223 (TMEM223), mRNA.	150						integral to membrane											CTGCTTCAAAGGAACTGTGAA	0.567000														7			6		0	0	0.001984	0	0
BICD2	23299	broad.mit.edu	37	9	95481024	95481024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:95481024G>A	uc004asp.1	-	4	1960	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	BICD2_uc004aso.1_Missense_Mutation_p.R635C	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	635					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding	p.R635H(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATCTGGTCACGGATGATAGCG	0.652000														71			45		0	0	0.010771	0	0
TTC18	118491	broad.mit.edu	37	10	75104891	75104891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr10:75104891C>T	uc009xrc.3	-	5	662	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	TTC18_uc001jty.3_Missense_Mutation_p.E181K|TTC18_uc009xrd.1_5'UTR	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	181							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ATGAAGGATTCAGGCACAGAG	0.483000														32			61		0	0	0.014410	0	0
RSPO2	340419	broad.mit.edu	37	8	108970342	108970342	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:108970342C>T	uc003yms.3	-	4	1240	c.582G>A	c.(580-582)agG>agA	p.R194R	RSPO2_uc003ymq.3_Silent_p.R127R|RSPO2_uc003ymr.3_Silent_p.R130R	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	194	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding	p.R194R(2)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TCTTGCATCTCCTGGATTCAG	0.458000														73			116		0	0	0.014410	0	0
ZNF519	162655	broad.mit.edu	37	18	14105163	14105163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr18:14105163G>A	uc002kst.2	-	2	1589	c.1376C>T	c.(1375-1377)tCt>tTt	p.S459F	ZNF519_uc002ksr.2_Intron|ZNF519_uc002ksq.2_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	Homo sapiens zinc finger protein 519 (ZNF519), transcript variant 1, mRNA.	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						ACATTTGAAAGACTTCTCTCC	0.403000														47			25		0	0	0.003954	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	38876	38876	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrGL000218.1:38876T>G	uc011mfn.2	-	4	676	c.587A>C	c.(586-588)cAc>cCc	p.H196P	LOC100233156_uc003jah.2_3'UTR					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		AGGATGGGGGTGTAGCAAGTA	0.562000														14			4		0	0	0.009096	0	0
MSX2	4488	broad.mit.edu	37	5	174152000	174152000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:174152000C>T	uc003mcy.3	+	0	426	c.338C>T	c.(337-339)gCg>gTg	p.A113V		NM_002449	NP_002440	P35548	MSX2_HUMAN	Homo sapiens msh homeobox 2 (MSX2), mRNA.	113					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAAGATGGAGCGGCGTGGATG	0.692000														23			14		0	0	0.004007	0	0
GZMA	3001	broad.mit.edu	37	5	54403726	54403726	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:54403726A>G	uc003jpm.3	+	2	357	c.320A>G	c.(319-321)gAc>gGc	p.D107G		NM_006144	NP_006135	P12544	GRAA_HUMAN	Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA.	107	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CCATGCTATGACCCAGCCACA	0.448000														39			28		0	0	0.010818	0	0
OR1L3	26735	broad.mit.edu	37	9	125437956	125437956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:125437956C>T	uc011lzb.2	+	0	548	c.548C>T	c.(547-549)cCt>cTt	p.P183L		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						GATGTCAACCCTGTGCTGAAA	0.448000														94			69		0	0	0.014410	0	0
RIMBP2	23504	broad.mit.edu	37	12	130892274	130892274	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:130892274G>A	uc001uil.2	-	15	3138	c.2922C>T	c.(2920-2922)gtC>gtT	p.V974V		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	974	SH3 3.					cell junction|synapse		p.V974V(4)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTGGTACCTCGACATCGACGT	0.567000														142			103		0	0	0.014410	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146246	70146246	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:70146246C>T	uc003hej.3	+	0	30	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	UGT2B28_uc010ihr.3_Silent_p.L10L	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	10					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTCAGTTCTTCTGCTGATACA	0.413000														66			51		0	0	0.014410	0	0
abParts	0	broad.mit.edu	37	14	107281163	107281163	+	RNA	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:107281163C>T	uc021ser.1	-	2		c.220G>A								Parts of antibodies, mostly variable regions.																		CACCAGTTACCACTGCTGATG	0.597000														10			6		0	0	0.001984	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34020709	34020709	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:34020709G>A	uc003jio.3	-	5	1080	c.939C>T	c.(937-939)ttC>ttT	p.F313F	C1QTNF3_uc003jim.3_Silent_p.F120F|C1QTNF3_uc003jin.3_Silent_p.F240F	NM_181435	NP_852100	Q9BXJ4	C1QT3_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 3 (C1QTNF3), transcript variant 2, mRNA.	240						collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CAAAGAGCAGGAATCCTGCAA	0.468000														81			68		0	0	0.014410	0	0
DENND4A	10260	broad.mit.edu	37	15	65982847	65982847	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:65982847A>G	uc002api.3	-	22	4467	c.4082T>C	c.(4081-4083)gTt>gCt	p.V1361A	DENND4A_uc002aph.3_Missense_Mutation_p.V1318A|DENND4A_uc002apj.3_Missense_Mutation_p.V1318A	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	1318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GTTTCTTAGAACATCTAGTTT	0.383000														29			26		0	0	0.003954	0	0
FOXS1	2307	broad.mit.edu	37	20	30432526	30432526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:30432526G>A	uc002wwt.1	-	0	895	c.820C>T	c.(820-822)Ccc>Tcc	p.P274S		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	274					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GCAGGGGAGGGGGCTGCTGAG	0.647000														17			18		0	0	0.006122	0	0
HRG	3273	broad.mit.edu	37	3	186390585	186390585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:186390585G>A	uc003fqq.3	+	4	591	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	190	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GAGAGGAGGGGAAGGAACTGG	0.413000														30			21		0	0	0.002780	0	0
ZNF726	730087	broad.mit.edu	37	19	24102252	24102252	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:24102252T>A	uc021urw.1	+	1	194	c.81T>A	c.(79-81)aaT>aaA	p.N27K	AK125686_uc002nrp.1_Non-coding_Transcript|ZNF726_uc021urv.1_Missense_Mutation_p.N27K	NM_001244038	NP_001230967	E9PLI7	E9PLI7_HUMAN	Homo sapiens zinc finger protein 726 (ZNF726), mRNA.	27					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										CACAGAAGAATTTATATAGGA	0.383000														15			23		0	0	0.003954	0	0
ODF3L2	284451	broad.mit.edu	37	19	463968	463968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:463968G>A	uc002lor.3	-	3	982	c.746C>T	c.(745-747)aCc>aTc	p.T249I	SHC2_uc002loq.4_5'Flank|ODF3L2_uc010drp.3_Missense_Mutation_p.T213I	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN	Homo sapiens outer dense fiber of sperm tails 3-like 2 (ODF3L2), mRNA.	249										large_intestine(1)|lung(2)	3						TTTGTTCACGGTGACCTGCTC	0.736000														10			13		0	0	0.003163	0	0
ATP1A2	477	broad.mit.edu	37	1	160106104	160106104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:160106104C>T	uc001fvc.3	+	17	2639	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F	ATP1A2_uc001fvb.2_Missense_Mutation_p.S836F|ATP1A2_uc001fvd.3_Missense_Mutation_p.S572F	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	836					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.S836P(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCACGAAACTCCCAGACGGAC	0.612000														48			30		0	0	0.010818	0	0
CLCN7	1186	broad.mit.edu	37	16	1503867	1503867	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:1503867G>A	uc002clv.2	-	13	1292	c.1182C>T	c.(1180-1182)gcC>gcT	p.A394A	CLCN7_uc002clw.2_Silent_p.A370A	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	394						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				AGTAGTTCAAGGCATTGAACA	0.597000														30			18		0	0	0.006122	0	0
OR2T12	127064	broad.mit.edu	37	1	248458252	248458252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:248458252G>A	uc010pzj.2	-	0	629	c.629C>T	c.(628-630)tCc>tTc	p.S210F		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F209L(1)		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														45			17		0	0	0.006122	0	0
POTEM	641455	broad.mit.edu	37	14	20020082	20020082	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:20020082C>A	uc001vwc.3	-	0	191	c.139G>T	c.(139-141)Gga>Tga	p.G47*	POTEM_uc001vwb.3_Non-coding_Transcript	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN	Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA.	47										endometrium(4)|kidney(1)|lung(4)	9						TCGTGGTCTCCAGAAGTGCCC	0.592000														373			79		1.68737e-39	1.91528e-39	0.014410	1	0
CDH18	1016	broad.mit.edu	37	5	19838948	19838948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:19838948G>A	uc003jgd.3	-	2	682	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C	CDH18_uc011cnm.2_Missense_Mutation_p.R50C|CDH18_uc003jgc.3_Missense_Mutation_p.R50C|CDH18_uc021xwu.1_Missense_Mutation_p.R50C	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	50					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R50C(3)		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)					CTTTTGGGACGATGATGGACT	0.418000														36			21		0	0	0.010504	0	0
CSMD3	114788	broad.mit.edu	37	8	114327001	114327001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:114327001C>T	uc003ynu.3	-	1	359	c.200G>A	c.(199-201)gGa>gAa	p.G67E	CSMD3_uc003ynt.3_Missense_Mutation_p.G27E|CSMD3_uc011lhx.2_Missense_Mutation_p.G67E|CSMD3_uc010mcx.1_Missense_Mutation_p.G67E|CSMD3_uc003ynx.4_Missense_Mutation_p.G67E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	67	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTTAAAGTTCCACCACATGT	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				101			39		0	0	0.006999	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751332	26751332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:26751332G>A	uc003cdp.3	+	1	758	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	LRRC3B_uc003cdq.3_Missense_Mutation_p.E57K|LRRC3B_uc021wuj.1_Missense_Mutation_p.E57K	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	57	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						AAATCTCAAGGAAATACCTAG	0.413000														40			47		0	0	0.014410	0	0
GABRA6	2559	broad.mit.edu	37	5	161116173	161116173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:161116173G>A	uc003lyu.2	+	3	782	c.444G>A	c.(442-444)atG>atA	p.M148I	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	148					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TATACACCATGAGGTGAGGTT	0.363000										TCGA Ovarian(5;0.080)				26			13		0	0	0.013537	0	0
PECR	55825	broad.mit.edu	37	2	216914082	216914082	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:216914082G>A	uc002vft.3	-	5	693	c.618C>T	c.(616-618)tcC>tcT	p.S206S	PECR_uc010zjq.2_Non-coding_Transcript	NM_018441	NP_060911	Q9BY49	PECR_HUMAN	Homo sapiens peroxisomal trans-2-enoyl-CoA reductase (PECR), mRNA.	206					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	p.S206S(2)		endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CAGCAGTCTGGGAATAAATAA	0.353000														58			46		0	0	0.013114	0	0
E2F1	1869	broad.mit.edu	37	20	32268181	32268181	+	Silent	SNP	C	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:32268181C>A	uc002wzu.4	-	1	443	c.303G>T	c.(301-303)ctG>ctT	p.L101L		NM_005225	NP_005216	Q01094	E2F1_HUMAN	Homo sapiens E2F transcription factor 1 (E2F1), mRNA.	101	Cyclin A/CDK2 binding.			KRRLDLETDHQYLAESSGPARGR -> RTPGTPRRQRRLCP PRRPGRAPC (in Ref. 8; AAD14150).	G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|apoptosis|cell proliferation|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	Rb-E2F complex|mitochondrion	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						TGCTCTCGGCCAGGTACTGAT	0.622000														38			22		1.55469e-16	1.74402e-16	0.003330	1	0
ARNTL2	56938	broad.mit.edu	37	12	27573413	27573413	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:27573413A>G	uc001rht.2	+	16	2078	c.1859A>G	c.(1858-1860)gAg>gGg	p.E620G	ARNTL2_uc001rhu.2_Missense_Mutation_p.E606G|ARNTL2_uc001rhv.2_Missense_Mutation_p.E572G|ARNTL2_uc001rhw.3_Missense_Mutation_p.E583G|ARNTL2_uc010sjp.2_3'UTR|ARNTL2_uc009zji.2_Missense_Mutation_p.E586G|BC043511_uc001rhx.3_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	620					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TTAGAAGCAGAGGGGGGCCTG	0.428000														46			39		0	0	0.008740	0	0
SPTBN1	6711	broad.mit.edu	37	2	54885066	54885066	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:54885066C>T	uc002rxu.3	+	29	6375	c.6126C>T	c.(6124-6126)agC>agT	p.S2042S	SPTBN1_uc002rxx.3_Silent_p.S2029S|SPTBN1_uc002rxy.3_Silent_p.S187S|SPTBN1_uc010you.2_Silent_p.S32S	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	2042	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCTATCCAGCCGAGAGATAG	0.577000											OREG0014619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		42			23		0	0	0.004656	0	0
MXRA5	25878	broad.mit.edu	37	X	3238808	3238808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:3238808G>A	uc004crg.4	-	4	5075	c.4918C>T	c.(4918-4920)Cgt>Tgt	p.R1640C		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1640						extracellular region		p.P1639S(1)		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)				GTCCAGTGACGAGGTGACTGG	0.463000														119			90		0	0	0.014410	0	0
LRRCC1	85444	broad.mit.edu	37	8	86043995	86043995	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:86043995G>A	uc003ycw.3	+	12	1975	c.1767_splice	c.e12-1	p.R589_splice	LRRCC1_uc010lzz.2_Splice_Site|LRRCC1_uc022awx.1_Splice_Site_p.R496_splice|LRRCC1_uc010maa.2_Splice_Site_p.R290_splice|LRRCC1_uc003ycy.3_Splice_Site_p.R569_splice	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	589					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTCACTCCAGGAAGGAACTTG	0.328000														10			16		0	0	0.004990	0	0
ZNF496	84838	broad.mit.edu	37	1	247464520	247464520	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:247464520G>A	uc009xgv.3	-	7	1210	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	ZNF496_uc001ico.3_Silent_p.I355I	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	355					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGGAGAGAACGATCTCGATGG	0.627000														45			22		0	0	0.012319	0	0
C9orf172	389813	broad.mit.edu	37	9	139739813	139739813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:139739813C>T	uc011meh.2	+	0	947	c.947C>T	c.(946-948)tCg>tTg	p.S316L		NM_001080482	NP_001073951	C9J069	CI172_HUMAN	Homo sapiens chromosome 9 open reading frame 172 (C9orf172), mRNA.	316	Pro-rich.									endometrium(2)|large_intestine(1)|lung(6)	9						GAGGAGCTCTCGGGGCCCAGT	0.657000														27			24		0	0	0.007291	0	0
STC2	8614	broad.mit.edu	37	5	172752949	172752949	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:172752949C>T	uc003mco.1	-	1	1526	c.216G>A	c.(214-216)gaG>gaA	p.E72E	STC2_uc003mcn.1_5'UTR	NM_003714	NP_003705	O76061	STC2_HUMAN	Homo sapiens stanniocalcin 2 (STC2), mRNA.	72					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	p.F71F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAGAGTTGTTCTCGAAACATT	0.438000														150			108		0	0	0.014410	0	0
FASLG	356	broad.mit.edu	37	1	172634809	172634809	+	Missense_Mutation	SNP	G	A	A	rs80358236		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:172634809G>A	uc001gis.3	+	3	656	c.499G>A	c.(499-501)Gga>Aga	p.G167R	FASLG_uc001git.3_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	167					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						AGACACCTATGGAATTGTCCT	0.433000														42			21		0	0	0.012319	0	0
abParts	0	broad.mit.edu	37	2	90007998	90007998	+	RNA	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:90007998C>T	uc010yts.2	+	13		c.2286C>T								Parts of antibodies, mostly variable regions.																		AGGGAAAGTTCCTAAGCTCCT	0.517000														53			38		0	0	0.014410	0	0
CACNA1S	779	broad.mit.edu	37	1	201039427	201039427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:201039427G>A	uc001gvv.3	-	16	2560	c.2333C>T	c.(2332-2334)tCc>tTc	p.S778F		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	778					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.S778C(2)		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)	GATGAAGAAGGAGCTGGCTTC	0.592000														59			40		0	0	0.005524	0	0
CBS	875	broad.mit.edu	37	21	44479065	44479065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr21:44479065G>A	uc002zcu.2	-	13	1482	c.1237C>T	c.(1237-1239)Cgt>Tgt	p.R413C	CBS_uc002zcs.1_Missense_Mutation_p.R308C|CBS_uc002zct.2_Missense_Mutation_p.R413C|CBS_uc002zcw.3_Missense_Mutation_p.R413C|CBS_uc002zcv.2_Missense_Mutation_p.R413C	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	413					L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	TCCTGAACACGGAGGTGCCAC	0.667000														18			29		0	0	0.007291	0	0
AKR7A2	8574	broad.mit.edu	37	1	19630750	19630750	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:19630750A>G	uc001bbw.3	-	6	1071	c.1049T>C	c.(1048-1050)gTt>gCt	p.V350A		NM_003689	NP_003680	O43488	ARK72_HUMAN	Homo sapiens aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) (AKR7A2), mRNA.	350					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTCGTGAGCAACCAAATGCCA	0.552000														34			30		0	0	0.010818	0	0
DMXL2	23312	broad.mit.edu	37	15	51757791	51757791	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:51757791G>A	uc010ufy.2	-	30	7803	c.7578C>T	c.(7576-7578)ttC>ttT	p.F2526F	DMXL2_uc002abd.3_Silent_p.F596F|DMXL2_uc002abf.3_Silent_p.F2525F|DMXL2_uc010bfa.3_Silent_p.F1889F	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2525						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CAATAGGAAAGAAATTCTTGA	0.328000														77			40		0	0	0.014410	0	0
RPL4	6124	broad.mit.edu	37	15	66793787	66793787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:66793787C>T	uc002apv.3	-	5	667	c.602G>A	c.(601-603)cGt>cAt	p.R201H	RPL4_uc002apx.3_Missense_Mutation_p.R107H|RPL4_uc010ujq.2_Missense_Mutation_p.R201H|RPL4_uc010bhs.1_5'Flank	NM_000968	NP_000959	P36578	RL4_HUMAN	Homo sapiens ribosomal protein L4 (RPL4), mRNA.	201				Missing (in Ref. 1; AAA60281).	endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GCGCTGGATACGGCGACGGTT	0.428000														100			5		0	0	0.000602	0	0
L1TD1	54596	broad.mit.edu	37	1	62672456	62672456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:62672456G>A	uc021ooc.1	+	3	591	c.156G>A	c.(154-156)atG>atA	p.M52I	L1TD1_uc001dae.4_Missense_Mutation_p.M52I	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	52										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						cagcaattatgaataagttta	0.348000														7			7		0	0	0.001984	0	0
ZNF208	7757	broad.mit.edu	37	19	22155686	22155686	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:22155686C>T	uc021urr.1	-	3	2299	c.2150G>A	c.(2149-2151)gGa>gAa	p.G717E	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.V717A(1)		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)				GGGTTTCTCTCCAGTATGAAT	0.373000														2			13		0	0	0.004990	0	0
SLC9C2	284525	broad.mit.edu	37	1	173493196	173493196	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:173493196G>T	uc001giz.2	-	20	2975	c.2552C>A	c.(2551-2553)cCa>cAa	p.P851Q	SLC9C2_uc009wwe.2_Missense_Mutation_p.P409Q	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	851					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GATTGCCTTTGGAAAGTTATT	0.363000														25			16		3.52763e-06	3.88445e-06	0.004990	1	0
CDH6	1004	broad.mit.edu	37	5	31323136	31323136	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:31323136C>T	uc003jhe.2	+	11	2454	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	698					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.L697F(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAGCCCTTTTCCTACCCCGAC	0.522000														31			19		0	0	0.010504	0	0
VPS33A	65082	broad.mit.edu	37	12	122720359	122720359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:122720359G>A	uc001ucd.3	-	10	1527	c.1414C>T	c.(1414-1416)Ctc>Ttc	p.L472F	VPS33A_uc001ucc.3_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	472					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TCCATCCAGAGGCGTAATGTT	0.498000														111			65		0	0	0.014410	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789370	6789370	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:6789370G>A	uc001meq.1	-	0	819	c.819C>T	c.(817-819)atC>atT	p.I273I		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAACAGAGATGATGTTGTCTT	0.512000														46			32		0	0	0.010818	0	0
TTN	7273	broad.mit.edu	37	2	179596940	179596940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:179596940C>T	uc021vsy.1	-	53	13249	c.13024G>A	c.(13024-13026)Gag>Aag	p.E4342K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1003K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5269	Ig-like 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)			TTGCTGCTCTCCTTAATTTCT	0.433000														102			54		0	0	0.014410	0	0
TNC	3371	broad.mit.edu	37	9	117845027	117845027	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:117845027C>T	uc004bjj.4	-	4	2603	c.2191G>A	c.(2191-2193)Gag>Aag	p.E731K	TNC_uc010mvf.3_Missense_Mutation_p.E731K|TNC_uc022bmj.1_Missense_Mutation_p.E731K	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	731	Fibronectin type-III 2.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGATCCCACTCCACTTCCACA	0.433000														42			31		0	0	0.013726	0	0
TTN	7273	broad.mit.edu	37	2	179441542	179441542	+	Silent	SNP	A	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:179441542A>G	uc021vsy.1	-	273	61950	c.61725T>C	c.(61723-61725)ccT>ccC	p.P20575P	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.P14270P|TTN_uc021vta.1_Silent_p.P14203P|TTN_uc021vtb.1_Silent_p.P14078P|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21502	Fibronectin type-III 49.						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)			CTGGTTTTTCAGGAGGGCCAG	0.433000														81			4		0	0	0.000602	0	0
CGNL1	84952	broad.mit.edu	37	15	57836732	57836732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:57836732G>A	uc010bfw.3	+	16	3630	c.3437G>A	c.(3436-3438)gGg>gAg	p.G1146E	CGNL1_uc002aeg.3_Missense_Mutation_p.G1146E	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	1146						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)		AGCAAAGAGGGGCTGGTTGTG	0.602000														14			8		0	0	0.003080	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155932915	155932915	+	Missense_Mutation	SNP	G	A	A	rs144287482		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:155932915G>A	uc001fmu.2	-	11	1171	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C	ARHGEF2_uc001fmr.2_Missense_Mutation_p.R234C|ARHGEF2_uc001fms.2_Missense_Mutation_p.R261C|ARHGEF2_uc001fmt.2_Missense_Mutation_p.R262C|ARHGEF2_uc010pgt.1_Missense_Mutation_p.R235C|ARHGEF2_uc010pgu.1_Missense_Mutation_p.R307C	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	262	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 Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATCCCCGTGCGGAAGAGGCGG	0.582000														43			16		0	0	0.004007	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68780325	68780325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:68780325C>T	uc003hdr.1	-	8	1206	c.1085G>A	c.(1084-1086)gGa>gAa	p.G362E	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.G359E	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	362	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ATCATAAATTCCTTCCATATA	0.358000														46			22		0	0	0.003330	0	0
ADAM18	8749	broad.mit.edu	37	8	39495159	39495159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:39495159G>A	uc003xni.3	+	8	819	c.764G>A	c.(763-765)aGa>aAa	p.R255K	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.R231K	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	255	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATATTACAAAGATTTTTGGCA	0.383000														21			23		0	0	0.012319	0	0
EYS	346007	broad.mit.edu	37	6	66054027	66054027	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:66054027G>A	uc011dxu.1	-	9	2041	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	EYS_uc003peq.3_Silent_p.F501F|EYS_uc003per.1_Silent_p.F501F|EYS_uc021zbn.1_Silent_p.F501F	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	501					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CAGCCAGAAAGAAATAGGCAT	0.353000														22			16		0	0	0.004990	0	0
TCERG1	10915	broad.mit.edu	37	5	145834747	145834747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:145834747C>T	uc003lob.3	+	1	228	c.188C>T	c.(187-189)cCa>cTa	p.P63L	TCERG1_uc003loc.3_Missense_Mutation_p.P63L|TCERG1_uc011dbt.2_Missense_Mutation_p.P63L	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	63	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCCACCACCACGGCCGCCC	0.612000														84			40		0	0	0.009718	0	0
GPR3	2827	broad.mit.edu	37	1	27721040	27721040	+	Silent	SNP	T	C	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:27721040T>C	uc001bod.3	+	1	833	c.738T>C	c.(736-738)atT>atC	p.I246I	GPR3_uc021ojv.1_Silent_p.I246I	NM_005281	NP_005272	P46089	GPR3_HUMAN	Homo sapiens G protein-coupled receptor 3 (GPR3), mRNA.	246					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		GCAAGGGCATTGCCACACTGG	0.632000														32			16		0	0	0.003163	0	0
AOC3	8639	broad.mit.edu	37	17	41008367	41008367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:41008367G>A	uc002ibv.3	+	3	2252	c.2092G>A	c.(2092-2094)Ggg>Agg	p.G698R		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	698					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGTGACTGTGGGGAACGGCGT	0.542000														16			49		0	0	0.014410	0	0
CCDC115	84317	broad.mit.edu	37	2	131099732	131099732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:131099732C>T	uc010zaf.1	-	0	180	c.71G>A	c.(70-72)aGg>aAg	p.R24K	CCDC115_uc002tqy.1_5'UTR|IMP4_uc002tra.1_5'Flank			Q96NT0	CC115_HUMAN	Homo sapiens coiled-coil domain containing 115 (CCDC115), mRNA.	0						endosome|lysosome				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					CACCTTCTTCCTTGTCACCCT	0.632000														13			7		0	0	0.001984	0	0
DNAH5	1767	broad.mit.edu	37	5	13714639	13714639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:13714639C>T	uc003jfd.2	-	74	13042	c.13000G>A	c.(13000-13002)Gac>Aac	p.D4334N	DNAH5_uc003jfc.2_Missense_Mutation_p.D502N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4334					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)					AGGATGGTGTCCAGCACGTCC	0.592000									Kartagener syndrome					56			37		0	0	0.004878	0	0
RP1	6101	broad.mit.edu	37	8	55540286	55540286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:55540286C>T	uc003xsd.1	+	3	3992	c.3844C>T	c.(3844-3846)Cct>Tct	p.P1282S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1282					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)			CACTTTTTTTCCTAGTGATGG	0.408000														74			56		0	0	0.014410	0	0
PROKR2	128674	broad.mit.edu	37	20	5294721	5294721	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:5294721C>T	uc010zqw.2	-	0	303	c.295G>A	c.(295-297)Gac>Aac	p.D99N	PROKR2_uc010zqx.2_Missense_Mutation_p.D99N|PROKR2_uc010zqy.2_Missense_Mutation_p.D99N|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	99						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.D99N(2)|p.S98S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ACCAGGAAGTCGGAGATGGCC	0.572000										HNSCC(71;0.22)				39			27		0	0	0.008361	0	0
KIF4B	285643	broad.mit.edu	37	5	154396923	154396923	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:154396923C>T	uc010jih.1	+	0	3664	c.3504C>T	c.(3502-3504)atC>atT	p.I1168I		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1168	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATAGCAAGATCCTGAAAGAGA	0.527000														30			19		0	0	0.007413	0	0
STAB2	55576	broad.mit.edu	37	12	104049247	104049247	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:104049247G>A	uc001tjw.3	+	14	1808	c.1622G>A	c.(1621-1623)gGa>gAa	p.G541E		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	541	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACCAATTTGGGACATGCCTTA	0.388000														36			26		0	0	0.004656	0	0
CPXM2	119587	broad.mit.edu	37	10	125516744	125516744	+	Silent	SNP	G	A	A	rs76525337	by1000genomes	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr10:125516744G>A	uc001lhk.1	-	11	2227	c.1902C>T	c.(1900-1902)atC>atT	p.I634I	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	634					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)		CCATGAACACGATCAGAGATT	0.532000														17			27		0	0	0.006320	0	0
OR13C5	138799	broad.mit.edu	37	9	107361003	107361003	+	Missense_Mutation	SNP	G	A	A	rs75216399	byFrequency	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:107361003G>A	uc011lvp.2	-	0	692	c.692C>T	c.(691-693)tCg>tTg	p.S231L		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S231L(2)|p.S230F(1)|p.S230Y(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TCTCCCCTCCGAAGAGCTAAT	0.423000														56			35		0	0	0.007835	0	0
CPAMD8	27151	broad.mit.edu	37	19	17015360	17015360	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:17015360C>T	uc002nfb.3	-	30	4203	c.4171G>A	c.(4171-4173)Ggg>Agg	p.G1391R	CPAMD8_uc002nfd.1_5'Flank	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1344						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGGGTGACCCCATCTGCAAGG	0.542000														10			20		0	0	0.007413	0	0
ZNF735	730291	broad.mit.edu	37	7	63680300	63680300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:63680300C>T	uc011kdn.2	+	3	871	c.871C>T	c.(871-873)Cat>Tat	p.H291Y		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CAAGAGAATTCATACTGGAGA	0.443000														14			14		0	0	0.002450	0	0
YY2	404281	broad.mit.edu	37	X	21875139	21875139	+	Silent	SNP	G	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:21875139G>T	uc011mjp.2	+	0	1035	c.537G>T	c.(535-537)ctG>ctT	p.L179L	MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	Homo sapiens YY2 transcription factor (YY2), mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						TCAAAACGCTGGAGGGTGAGT	0.577000														109			63		5.00936e-31	5.67253e-31	0.014410	1	0
SLC17A6	57084	broad.mit.edu	37	11	22391620	22391620	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:22391620C>T	uc001mqk.3	+	7	1340	c.927C>T	c.(925-927)tcC>tcT	p.S309S		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	309					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTTTTACATCCATGCCAGTCT	0.333000														33			13		0	0	0.003163	0	0
CCDC130	81576	broad.mit.edu	37	19	13868275	13868275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:13868275C>T	uc002mxc.1	+	4	401	c.184C>T	c.(184-186)Cac>Tac	p.H62Y	CCDC130_uc010xnf.2_Missense_Mutation_p.H62Y	NM_030818	NP_110445	P13994	CC130_HUMAN	Homo sapiens coiled-coil domain containing 130 (CCDC130), mRNA.	62					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)			CTGCAAGAACCACATCGGCAT	0.562000														9			17		0	0	0.010504	0	0
SLC4A10	57282	broad.mit.edu	37	2	162833301	162833301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:162833301G>A	uc002ubx.4	+	24	3443	c.3259G>A	c.(3259-3261)Gaa>Aaa	p.E1087K	SLC4A10_uc010zcs.2_Missense_Mutation_p.E1068K|SLC4A10_uc002uby.4_Missense_Mutation_p.E1057K	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	1087					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.S1086F(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TATATCTGATGAAATGTCAAA	0.353000														13			12		0	0	0.003163	0	0
GCFC2	6936	broad.mit.edu	37	2	75923424	75923424	+	Silent	SNP	A	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:75923424A>T	uc002sno.3	-	4	865	c.735T>A	c.(733-735)ctT>ctA	p.L245L	GCFC2_uc010ffs.3_5'UTR|GCFC2_uc002snn.3_Silent_p.L76L|GCFC2_uc010fft.3_Intron	NM_003203	NP_001188263	P16383	GCF_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 2 (GCFC2), transcript variant 1, mRNA.	245					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										TGCCACAGGAAAGATCTATGT	0.289000														39			27		0	0	0.008361	0	0
INPP5J	27124	broad.mit.edu	37	22	31524530	31524530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr22:31524530C>T	uc003aju.4	+	8	2175	c.2083C>T	c.(2083-2085)Ccc>Tcc	p.P695S	INPP5J_uc003ajw.3_Missense_Mutation_p.P131S|INPP5J_uc003ajt.4_Missense_Mutation_p.P327S|INPP5J_uc003ajv.4_Missense_Mutation_p.P328S|INPP5J_uc003ajs.4_Missense_Mutation_p.P328S|INPP5J_uc011alk.2_Missense_Mutation_p.P628S|INPP5J_uc010gwg.3_Missense_Mutation_p.P260S	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	695	Catalytic (Potential).					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GGGTCCCAGCCCCTCAGGACG	0.602000														44			25		0	0	0.003330	0	0
ASH1L	55870	broad.mit.edu	37	1	155313129	155313129	+	Silent	SNP	A	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:155313129A>G	uc009wqq.3	-	23	8764	c.8284T>C	c.(8284-8286)Ttg>Ctg	p.L2762L	ASH1L_uc001fkt.3_Silent_p.L2757L	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2762	BAH.				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TAAAGGTCCAACACACAGCAG	0.493000														41			31		0	0	0.008361	0	0
U2SURP	23350	broad.mit.edu	37	3	142753812	142753812	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:142753812T>G	uc003evh.1	+	18	2035	c.1936T>G	c.(1936-1938)Ttt>Gtt	p.F646V	U2SURP_uc003evi.1_Missense_Mutation_p.F237V|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.F645V|U2SURP_uc003evl.1_Missense_Mutation_p.F213V	NM_001080415	NP_001073884	O15042	SR140_HUMAN	Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.	646	CID.				RNA processing	nucleus	RNA binding|nucleotide 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						ATCTGAAAACTTTAAGGTACG	0.358000														4			8		0	0	0.004482	0	0
BIN2	51411	broad.mit.edu	37	12	51695882	51695882	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:51695882C>T	uc001ryg.3	-	4	382	c.330G>A	c.(328-330)tgG>tgA	p.W110*	BIN2_uc009zlz.3_Intron|BIN2_uc001ryh.3_5'UTR|BIN2_uc010sng.2_Nonsense_Mutation_p.W84*	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	110	BAR.					cytoplasm	protein binding	p.W110L(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CGTAGTCTTCCCAAAGGAGAT	0.463000														28			13		0	0	0.007413	0	0
TACR3	6870	broad.mit.edu	37	4	104511023	104511023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:104511023C>T	uc003hxe.1	-	4	1355	c.1214G>A	c.(1213-1215)aGa>aAa	p.R405K		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	405						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGACTCCATTCTGGTCACGGT	0.507000														108			95		0	0	0.014410	0	0
NOBOX	135935	broad.mit.edu	37	7	144096917	144096917	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:144096917C>T	uc022aoj.1	-	5	1087	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	363					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TTCAGTTTCTCCATTTTTCGC	0.532000														16			15		0	0	0.007413	0	0
CABP4	57010	broad.mit.edu	37	11	67223176	67223176	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:67223176C>T	uc001olo.3	+	0	359	c.282C>T	c.(280-282)cgC>cgT	p.R94R	GPR152_uc001olm.3_5'Flank|CABP4_uc001oln.3_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	94					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)			CCTCTTCTCGCCAGTCCCACC	0.682000														10			5		0	0	0.001168	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74905279	74905279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:74905279G>A	uc001dge.2	+	21	2354	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.E763K|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.E662K	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	662						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TCTCACTGGCGAAATTCCATT	0.438000														37			32		0	0	0.012213	0	0
FBXW11	23291	broad.mit.edu	37	5	171295671	171295671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:171295671G>A	uc003mbm.1	-	11	1968	c.1597C>T	c.(1597-1599)Ccc>Tcc	p.P533S	FBXW11_uc011dey.1_Missense_Mutation_p.P501S|FBXW11_uc003mbl.1_Missense_Mutation_p.P520S|FBXW11_uc003mbn.1_Missense_Mutation_p.P499S	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA.	533					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway|cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process	SCF ubiquitin ligase complex|centrosome|cytosol|nucleus	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTTCTGGAGGGAGAACGGGTC	0.438000														76			41		0	0	0.010771	0	0
ZNF705A	440077	broad.mit.edu	37	12	8329984	8329984	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:8329984C>T	uc001qud.1	+	4	780	c.708C>T	c.(706-708)gcC>gcT	p.A236A	FAM66C_uc001que.4_5'Flank|FAM66C_uc001quf.4_5'Flank|FAM66C_uc009zgc.3_5'Flank|FAM66C_uc001qug.3_5'Flank	NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN	Homo sapiens zinc finger protein 705A (ZNF705A), mRNA.	236					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)		GTGGGAAAGCCTTTATTCAAT	0.398000														86			53		0	0	0.014410	0	0
TBC1D3F	84218	broad.mit.edu	37	17	36375139	36375139	+	RNA	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:36375139C>T	uc010wdn.1	-	0		c.39G>A			LOC440434_uc002hpx.2_Non-coding_Transcript			A6NER0	TBC3F_HUMAN	Homo sapiens aminopeptidase puromycin sensitive pseudogene (LOC440434), non-coding RNA.							intracellular	Rab GTPase activator activity			liver(1)|pancreas(1)	2						GTGACTTTTTCATCTTCATTC	0.363000														15			9		0	0	0.003163	0	0
USP31	57478	broad.mit.edu	37	16	23117577	23117577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:23117577G>A	uc002dll.3	-	3	910	c.910C>T	c.(910-912)Cct>Tct	p.P304S		NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	304					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)		CAAAGGAAAGGATCAAAAGTG	0.388000														28			14		0	0	0.002450	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129032	99129032	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:99129032G>A	uc003uqv.3	+	6	1804	c.1680G>A	c.(1678-1680)caG>caA	p.Q560Q	ZKSCAN5_uc010lfx.3_Silent_p.Q560Q|ZKSCAN5_uc003uqw.3_Silent_p.Q560Q|ZKSCAN5_uc003uqx.3_Silent_p.Q487Q|ZKSCAN5_uc003uqy.3_Silent_p.Q296Q	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	560					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCTTCATTCAGAGTGCACATC	0.438000														23			9		0	0	0.006214	0	0
MST1P2	11209	broad.mit.edu	37	1	16975289	16975289	+	Splice_Site	SNP	T	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:16975289T>A	uc010och.2	+	8		c.1656_splice	c.e8+2		MST1P2_uc009vox.3_Splice_Site|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCCCCCCAGGTTAGGAGTTGG	0.577000														116			13		0	0	0.002450	0	0
ADH6	130	broad.mit.edu	37	4	100131307	100131307	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:100131307G>A	uc003huo.2	-	4	593	c.499C>T	c.(499-501)Cta>Tta	p.L167L	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Intron|ADH6_uc003hup.4_Silent_p.L167L|ADH6_uc010ile.3_Silent_p.L167L	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	167					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ACTTTCTCTAGAGGAGCGACT	0.428000														63			44		0	0	0.014410	0	0
SPAG9	9043	broad.mit.edu	37	17	49067086	49067086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:49067086G>A	uc002itc.3	-	20	2974	c.2765C>T	c.(2764-2766)cCt>cTt	p.P922L	SPAG9_uc002itd.3_Missense_Mutation_p.P912L|SPAG9_uc002itb.3_Missense_Mutation_p.P908L|SPAG9_uc002itf.3_Missense_Mutation_p.P743L|SPAG9_uc002ita.3_Missense_Mutation_p.P765L|SPAG9_uc002ite.3_Missense_Mutation_p.P752L	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	922					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AACTCCCAAAGGATCTGTAAA	0.473000														21			19		0	0	0.006122	0	0
STXBP5L	9515	broad.mit.edu	37	3	121137201	121137201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:121137201G>A	uc003eec.4	+	26	3456	c.3316G>A	c.(3316-3318)Gga>Aga	p.G1106R	STXBP5L_uc011bji.2_Missense_Mutation_p.G1082R	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	1106					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)		AGCTTCGGCAGGAAAAGCATC	0.473000														6			8		0	0	0.006214	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886232	9886232	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr18:9886232G>A	uc002koi.4	+	0	510	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	TXNDC2_uc002koh.4_Intron|TXNDC2_uc021ugx.1_5'Flank	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	21					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TGGAAAACCAGAAATGAGGCT	0.468000														44			37		0	0	0.005524	0	0
CNTN5	53942	broad.mit.edu	37	11	99932090	99932090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:99932090G>A	uc001pga.3	+	9	1631	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	CNTN5_uc009ywv.2_Missense_Mutation_p.G376E|CNTN5_uc001pfz.3_Missense_Mutation_p.G376E|CNTN5_uc021qpb.1_Missense_Mutation_p.G376E|CNTN5_uc021qpc.1_Missense_Mutation_p.G302E	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	376	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.R375H(1)		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)		AACTCACGTGGAAAAAATTCC	0.423000														29			13		0	0	0.013537	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589046	140589046	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:140589046G>A	uc003liz.3	+	0	756	c.567G>A	c.(565-567)agG>agA	p.R189R	PCDHB12_uc011dak.2_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	189	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGACAATAGGAAATACCCTG	0.458000														27			16		0	0	0.004007	0	0
ODZ3	55714	broad.mit.edu	37	4	183600836	183600836	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:183600836C>T	uc003ivd.1	+	6	1419	c.1344C>T	c.(1342-1344)ctC>ctT	p.L448L	ODZ3_uc003ive.1_5'Flank	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	448					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TCGTGGAGCTCCTGGATGGCA	0.547000														63			26		0	0	0.007291	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54913431	54913431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:54913431C>T	uc003dhf.3	+	19	1885	c.1837C>T	c.(1837-1839)Cct>Tct	p.P613S	CACNA2D3_uc011beu.1_Intron|CACNA2D3_uc003dhg.1_Missense_Mutation_p.P519S|CACNA2D3_uc003dhh.1_Intron|CACNA2D3_uc010hmv.1_Missense_Mutation_p.P347S|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	613						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.P613L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CAAGGGTACTCCTTTCAGGTA	0.383000														23			74		0	0	0.014410	0	0
PHACTR3	116154	broad.mit.edu	37	20	58416569	58416569	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:58416569G>A	uc002yau.3	+	10	2033	c.1566G>A	c.(1564-1566)acG>acA	p.T522T	PHACTR3_uc002yat.3_Silent_p.T519T|PHACTR3_uc010zzw.2_Silent_p.T481T|PHACTR3_uc002yav.3_Silent_p.T481T|PHACTR3_uc002yaw.3_Silent_p.T481T|PHACTR3_uc002yax.3_Silent_p.T411T|PHACTR3_uc002yay.3_Silent_p.T91T	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	522						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AACCCTGGACGAGACTGTCAG	0.443000														13			20		0	0	0.012319	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756352	94756352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:94756352C>T	uc001yct.3	-	1	1045	c.579G>A	c.(577-579)atG>atA	p.M193I	SERPINA10_uc001ycu.4_Missense_Mutation_p.M193I	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	193					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGCGAAAATTCATAGGCACGC	0.403000														59			34		0	0	0.013726	0	0
CLDN17	26285	broad.mit.edu	37	21	31538540	31538540	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr21:31538540G>A	uc011acv.2	-	0	432	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_012131	NP_036263	P56750	CLD17_HUMAN	Homo sapiens claudin 17 (CLDN17), mRNA.	132					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GAATCAGAACGAAGATGCCCG	0.512000														13			35		0	0	0.005524	0	0
OR52N1	79473	broad.mit.edu	37	11	5809841	5809841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:5809841G>A	uc010qzo.2	-	0	206	c.206C>T	c.(205-207)tCc>tTc	p.S69F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATCTGTGAAGGAAAGAAGGGC	0.458000														48			25		0	0	0.003330	0	0
CRYGN	155051	broad.mit.edu	37	7	151133376	151133376	+	Silent	SNP	A	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:151133376A>G	uc003wke.3	-	2	402	c.306T>C	c.(304-306)ggT>ggC	p.G102G	CRYGN_uc003wkf.3_Intron|CRYGN_uc003wkg.3_Non-coding_Transcript|CRYGN_uc010lqd.1_Non-coding_Transcript|MIR3907_uc022aqe.1_5'Flank	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	Homo sapiens crystallin, gamma N (CRYGN), mRNA.	102	Beta/gamma crystallin 'Greek key' 3.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAAGTTGCAACCCTCGAAGA	0.532000														27			15		0	0	0.004007	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76019609	76019609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:76019609C>T	uc003ufb.3	-	10	1843	c.1495G>A	c.(1495-1497)Gat>Aat	p.D499N	SRCRB4D_uc003ufa.3_5'UTR	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.	499	SRCR 4.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CAAGCATCATCACAGACAGTG	0.677000														23			21		0	0	0.012319	0	0
MDGA1	266727	broad.mit.edu	37	6	37606430	37606430	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:37606430G>A	uc003onu.1	-	14	3729	c.2550C>T	c.(2548-2550)ctC>ctT	p.L850L	MDGA1_uc003onv.1_Silent_p.L119L	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	850	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ACCGCACCAGGAGGTTGAGGG	0.612000														22			9		0	0	0.006214	0	0
USP42	84132	broad.mit.edu	37	7	6187441	6187442	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:6187441_6187442CC>TT	uc011jwo.1	+	11	1427_1428	c.1304_1305CC>TT	c.(1303-1305)ccc>cTT	p.P435L	USP42_uc010kth.1_Missense_Mutation_p.P368L|USP42_uc011jwp.2_Missense_Mutation_p.P435L|USP42_uc011jwq.2_Missense_Mutation_p.P242L|USP42_uc011jwr.1_Missense_Mutation_p.P280L	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.	435					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TCTCCCCGCCCCGTCATCAGTC	0.540000														40			40		0	0	0.004672	0	0
ANO2	57101	broad.mit.edu	37	12	5687641	5687641	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:5687641G>A	uc001qnm.2	-	21	2349	c.2277C>T	c.(2275-2277)ccC>ccT	p.P759P		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	764						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						CAGGTGCCAGGGGAAAGGAGG	0.537000														27			20		0	0	0.010504	0	0
VEZT	55591	broad.mit.edu	37	12	95668613	95668613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:95668613C>T	uc001tdz.2	+	6	1049	c.944C>T	c.(943-945)tCa>tTa	p.S315L	VEZT_uc001tds.3_Missense_Mutation_p.S267L|VEZT_uc001tdv.3_Missense_Mutation_p.S288L|VEZT_uc009ztb.2_Non-coding_Transcript|VEZT_uc009ztc.1_5'UTR|VEZT_uc001tdy.2_Non-coding_Transcript	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.	315						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GAGCAGATTTCAGAAGAGGAA	0.438000														58			45		0	0	0.014410	0	0
S100A2	6273	broad.mit.edu	37	1	153536302	153536302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:153536302G>A	uc001fcb.3	-	1	387	c.49C>T	c.(49-51)Cac>Tac	p.H17Y		NM_005978	NP_005969	P29034	S10A2_HUMAN	Homo sapiens S100 calcium binding protein A2 (S100A2), mRNA.	18	EF-hand 1.				endothelial cell migration		calcium ion binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGTACTTGTGGAAGGTAGTG	0.567000														34			25		0	0	0.003954	0	0
LOC442459	442459	broad.mit.edu	37	X	98975411	98975411	+	RNA	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:98975411C>T	uc011mrd.1	-	7		c.932G>A								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		GTGCCCATTTCCTGGTCTCCT	0.483000														5			15		0	0	0.002450	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776484	159776484	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:159776484G>A	uc003lyd.3	-	2	688	c.684C>T	c.(682-684)tcC>tcT	p.S228S		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA.	183	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTTGCCGCTGGAAGCATTGT	0.587000														60			32		0	0	0.009535	0	0
NTNG2	84628	broad.mit.edu	37	9	135102365	135102365	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:135102365G>A	uc004cbh.2	+	3	1763	c.987G>A	c.(985-987)cgG>cgA	p.R329R		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	329	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane		p.R329R(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGTCCTGGCGGGCCGGCTCCT	0.677000														15			4		0	0	0.009096	0	0
EIF2C2	27161	broad.mit.edu	37	8	141542581	141542581	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:141542581G>C	uc003yvn.3	-	17	2446	c.2405C>G	c.(2404-2406)cCa>cGa	p.P802R	EIF2C2_uc010meo.3_Missense_Mutation_p.P768R|EIF2C2_uc010men.3_Missense_Mutation_p.P725R	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	802	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GTAGTATGCTGGCGCTGGGAT	0.592000														23			22		0	0	0.014323	0	0
CCNT2	905	broad.mit.edu	37	2	135711820	135711820	+	Silent	SNP	C	T	T	rs138282554		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:135711820C>T	uc002tuc.2	+	8	1828	c.1795C>T	c.(1795-1797)Ctg>Ttg	p.L599L	CCNT2_uc010zbf.2_Silent_p.L424L|CCNT2_uc002tub.2_Silent_p.L599L|CCNT2_uc002tud.2_Silent_p.L262L	NM_058241	NP_490595	O60583	CCNT2_HUMAN	Homo sapiens cyclin T2 (CCNT2), transcript variant b, mRNA.	599					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		ACCCACTGTTCTGAGGAGTCC	0.557000														31			17		0	0	0.004007	0	0
DCLK3	85443	broad.mit.edu	37	3	36763055	36763055	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:36763055G>A	uc003cgi.2	-	2	2039	c.1548C>T	c.(1546-1548)acC>acT	p.T516T		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	516	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.G515A(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CGTAAGTTGGGGTCCCACACA	0.413000														82			31		0	0	0.010818	0	0
PZP	5858	broad.mit.edu	37	12	9302168	9302169	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:9302168_9302169GG>AA	uc001qvl.3	-	34	4443_4444	c.4414_4415CC>TT	c.(4414-4416)ccc>TTc	p.P1472F	PZP_uc009zgl.3_Missense_Mutation_p.P1258F	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGTGCTGCAGGGGGCGATATAC	0.450000														62			27		0	0	0.004672	0	0
LMO7	4008	broad.mit.edu	37	13	76416006	76416006	+	Silent	SNP	A	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr13:76416006A>G	uc021rkq.1	+	23	4253	c.3918A>G	c.(3916-3918)caA>caG	p.Q1306Q	LMO7_uc010thv.2_Silent_p.Q1024Q|LMO7_uc001vjt.1_Silent_p.Q972Q|LMO7_uc001vjv.3_Silent_p.Q1073Q|LMO7_uc010thw.2_Silent_p.Q950Q|LMO7_uc001vjw.1_Silent_p.Q979Q	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1358						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGGAAGAGCAAGAGCAAAAGC	0.522000														38			25		0	0	0.003330	0	0
CCDC40	55036	broad.mit.edu	37	17	78073453	78073453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:78073453G>A	uc010dht.3	+	19	3339	c.3308G>A	c.(3307-3309)cGa>cAa	p.R1103Q	CCDC40_uc002jxm.4_Missense_Mutation_p.R886Q|CCDC40_uc002jxn.4_Missense_Mutation_p.R499Q|GAA_uc002jxp.3_5'Flank|GAA_uc002jxo.3_5'Flank|GAA_uc002jxq.3_5'Flank	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	1103					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTGGACAAGCGACTGGCTCTC	0.632000														24			12		0	0	0.007413	0	0
abParts	0	broad.mit.edu	37	14	106878068	106878068	+	RNA	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:106878068G>A	uc021ser.1	-	408		c.12939C>T								Parts of antibodies, mostly variable regions.																		TCTTGCACATGAGATCCATGA	0.493000														11			10		0	0	0.006214	0	0
MED12L	116931	broad.mit.edu	37	3	151134124	151134125	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:151134124_151134125CC>TT	uc003eyp.3	+	40	6346_6347	c.6217_6218CC>TT	c.(6217-6219)ccc>TTc	p.P2073F	MED12L_uc011bnz.2_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	2073	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.P2073H(2)		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)			gcagccccagccccagcagcct	0.540000														4			27		0	0	0.004672	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41015533	41015533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:41015533C>T	uc003jmj.4	-	28	3422	c.2932G>A	c.(2932-2934)Gaa>Aaa	p.E978K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E533K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	978							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TCATCACTTTCCAGCCCTTCC	0.408000														28			17		0	0	0.012319	0	0
PRSS1	5644	broad.mit.edu	37	7	142459847	142459847	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:142459847C>T	uc003wak.2	+	2	440	c.423C>T	c.(421-423)atC>atT	p.I141I	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.I81I	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	141	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGTGCCTCATCTCTGGCTGGG	0.567000														174			34		0	0	0.003755	0	0
ERBB4	2066	broad.mit.edu	37	2	212989485	212989485	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:212989485A>G	uc002veg.1	-	1	324	c.226T>C	c.(226-228)Ttc>Ctc	p.F76L	ERBB4_uc002veh.1_Missense_Mutation_p.F76L|ERBB4_uc010zji.1_Missense_Mutation_p.F76L|ERBB4_uc010zjj.1_Missense_Mutation_p.F76L|ERBB4_uc010fut.1_Missense_Mutation_p.F76L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	76					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)		ACCCGCAGGAAGGAGAGGTCC	0.517000										TSP Lung(8;0.080)				33			15		0	0	0.004990	0	0
SMYD3	64754	broad.mit.edu	37	1	246091332	246091332	+	Silent	SNP	G	A	A	rs74523188		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:246091332G>A	uc001ibl.3	-	6	728	c.603C>T	c.(601-603)atC>atT	p.I201I	SMYD3_uc001ibk.3_Silent_p.I142I|SMYD3_uc001ibj.3_Silent_p.I12I	NM_001167740	NP_073580	Q9H7B4	SMYD3_HUMAN	Homo sapiens SET and MYND domain containing 3 (SMYD3), transcript variant 1, mRNA.	201	SET.					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		TGAGCAAAGAGATACTGGAAA	0.493000														34			23		0	0	0.003954	0	0
PAX6	5080	broad.mit.edu	37	11	31815651	31815651	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:31815651T>C	uc009yjr.3	-	8	1163	c.694A>G	c.(694-696)Acc>Gcc	p.T232A	PAX6_uc001mtd.4_Missense_Mutation_p.T232A|PAX6_uc001mte.4_Missense_Mutation_p.T232A|PAX6_uc001mtg.4_Missense_Mutation_p.T246A|PAX6_uc001mtf.4_Missense_Mutation_p.T232A|PAX6_uc001mth.4_Missense_Mutation_p.T232A|PAX6_uc021qfl.1_Missense_Mutation_p.T246A|PAX6_uc021qfm.1_Missense_Mutation_p.T246A|PAX6_uc021qfn.1_Missense_Mutation_p.T232A	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	232					blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GGATAATGGGTTCTCTCAAAC	0.428000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation					73			47		0	0	0.014410	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212662	26212662	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:26212662C>T	uc022buc.1	+	0	699	c.699C>T	c.(697-699)ttC>ttT	p.F233F	MAGEB6_uc004dbr.3_Silent_p.F233F	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	233	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGCCCTACTTCCCTCAGATCC	0.498000														48			28		0	0	0.005443	0	0
OR5J2	282775	broad.mit.edu	37	11	55945014	55945014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:55945014G>A	uc010rjb.2	+	0	921	c.921G>A	c.(919-921)atG>atA	p.M307I		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	307					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)					CCATAGAAATGAAACATTTCC	0.383000														10			9		0	0	0.006214	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45555835	45555835	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr18:45555835C>T	uc010dnv.3	-	3	2158	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	ZBTB7C_uc002ldb.3_Silent_p.E552E|ZBTB7C_uc010dnu.3_Silent_p.E561E|ZBTB7C_uc010dnw.3_Silent_p.E552E	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	552						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TCTGTGTCTCCTCGAACTGCC	0.726000														7			9		0	0	0.004482	0	0
AKAP4	8852	broad.mit.edu	37	X	49957272	49957272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:49957272C>T	uc004dow.1	-	4	2216	c.2092G>A	c.(2092-2094)Gat>Aat	p.D698N	AKAP4_uc004dou.1_Missense_Mutation_p.D689N|AKAP4_uc004dov.1_Missense_Mutation_p.D315N|AKAP4_uc010njp.1_Missense_Mutation_p.D520N	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	698					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.I697R(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ACTAGTTTATCTATAAATTGC	0.473000														41			22		0	0	0.010504	0	0
OR2M2	391194	broad.mit.edu	37	1	248343973	248343973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:248343973G>A	uc010pzf.2	+	0	686	c.686G>A	c.(685-687)gGa>gAa	p.G229E		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTCACATGGGATCTGGAGAG	0.458000														59			30		0	0	0.004878	0	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	G	G	rs35873108	byFrequency	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:132547138A>G	uc001ujn.3	+	46	8378	c.8226A>G	c.(8224-8226)caA>caG	p.Q2742Q	EP400_uc021rgq.1_Silent_p.Q2741Q|EP400_uc001ujm.3_Silent_p.Q2661Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2778	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(6)|p.Q2742Q(3)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602000														45			3		0	0	0.004672	0	0
TICAM1	148022	broad.mit.edu	37	19	4818134	4818134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:4818134G>A	uc002mbi.3	-	1	507	c.256C>T	c.(256-258)Cca>Tca	p.P86S	TICAM1_uc021unj.1_Missense_Mutation_p.P86S	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	86					I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCTCCTCTGGGTCCTCGGTG	0.677000														0			6		0	0	0.001168	0	0
ITGA7	3679	broad.mit.edu	37	12	56088425	56088425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:56088425C>T	uc001shh.3	-	15	2483	c.2263G>A	c.(2263-2265)Ggg>Agg	p.G755R	ITGA7_uc001shg.3_Missense_Mutation_p.G751R|ITGA7_uc010sps.2_Missense_Mutation_p.G658R|ITGA7_uc009znw.3_5'UTR|ITGA7_uc009znx.3_Missense_Mutation_p.G632R	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	795					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATGGGGTTCCCCAGCTCACAC	0.562000														42			38		0	0	0.006230	0	0
ADAM12	8038	broad.mit.edu	37	10	127755336	127755336	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr10:127755336G>T	uc001ljk.2	-	12	1785	c.1372C>A	c.(1372-1374)Ctg>Atg	p.L458M	ADAM12_uc010qul.1_Missense_Mutation_p.L409M|ADAM12_uc001ljm.3_Missense_Mutation_p.L458M|ADAM12_uc001ljn.3_Missense_Mutation_p.L455M|ADAM12_uc001ljl.4_Missense_Mutation_p.L455M	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	458	Disintegrin.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TCCGGCTTCAGGGTACAGGTG	0.547000														5			11		7.03913e-09	7.80496e-09	0.013537	1	0
CXorf21	80231	broad.mit.edu	37	X	30577767	30577767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:30577767G>A	uc022bui.1	-	0	706	c.706C>T	c.(706-708)Cct>Tct	p.P236S	CXorf21_uc004dcg.2_Missense_Mutation_p.P236S	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	236										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						ATCTGGGTAGGAGAACTGTCA	0.423000														47			23		0	0	0.014323	0	0
CD163	9332	broad.mit.edu	37	12	7651598	7651598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:7651598C>T	uc001qsz.3	-	3	772	c.644G>A	c.(643-645)gGa>gAa	p.G215E	CD163_uc001qta.3_Missense_Mutation_p.G215E|CD163_uc009zfw.2_Missense_Mutation_p.G215E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	215	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G215*(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGAGCCTTCTCCAAAATTAGA	0.408000														98			73		0	0	0.014410	0	0
TGM3	7053	broad.mit.edu	37	20	2290449	2290449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:2290449G>A	uc002wfx.4	+	1	251	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	52					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGGCTCTAACGAAAGACTGGA	0.498000														60			35		0	0	0.005524	0	0
FLG	2312	broad.mit.edu	37	1	152286842	152286842	+	Missense_Mutation	SNP	C	T	T	rs112248790		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:152286842C>T	uc001ezu.1	-	2	556	c.520G>A	c.(520-522)Gga>Aga	p.G174R	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	174					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTTTTTTCCATATTCTTCT	0.348000									Ichthyosis					51			40		0	0	0.005524	0	0
OR10G8	219869	broad.mit.edu	37	11	123901033	123901033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:123901033G>A	uc001pzp.1	+	0	704	c.704G>A	c.(703-705)aGa>aAa	p.R235K		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H234N(1)		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)		GGGAAGCACAGAGCCTTTCAG	0.547000														13			36		0	0	0.003755	0	0
UBE2J1	51465	broad.mit.edu	37	6	90039660	90039660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:90039660G>A	uc003pnc.3	-	7	1026	c.695C>T	c.(694-696)tCc>tTc	p.S232F		NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2, J1, U (UBE2J1), mRNA.	232						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TGCTGCTGAGGAATTCTGGAG	0.433000														12			23		0	0	0.002780	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105883861	105883861	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:105883861G>A	uc002tcq.3	-	11	2646	c.2562C>T	c.(2560-2562)tcC>tcT	p.S854S	TGFBRAP1_uc010fjc.3_Silent_p.S623S|TGFBRAP1_uc002tcr.4_Silent_p.S854S|LOC644617_uc002tcp.3_5'Flank	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	854					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGCCAGGACTGGATGAGCTGG	0.542000														50			32		0	0	0.012213	0	0
TRIM8	81603	broad.mit.edu	37	10	104416968	104416969	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr10:104416968_104416969CC>TT	uc001kvz.2	+	5	1636_1637	c.1513_1514CC>TT	c.(1513-1515)ccg>TTg	p.P505L		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.	505						PML body|cytoplasm	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTACTCACACCCGCTCCCGCCC	0.663000														7			21		0	0	0.004672	0	0
OR52A5	390054	broad.mit.edu	37	11	5153120	5153120	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:5153120G>A	uc010qyx.2	-	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGAACTGTAGGAAGACACAAA	0.418000														30			20		0	0	0.010504	0	0
MTUS2	23281	broad.mit.edu	37	13	29599548	29599548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr13:29599548G>A	uc001usl.4	+	0	801	c.743G>A	c.(742-744)gGa>gAa	p.G248E		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	238						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						ACCTCAGAGGGAAAGAGTGTG	0.577000														16			13		0	0	0.013537	0	0
SSPO	23145	broad.mit.edu	37	7	149492356	149492356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:149492356C>T	uc010lpk.3	+	41	6236	c.6236C>T	c.(6235-6237)tCg>tTg	p.S2079L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2082	F5/8 type C.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCATGCATCGTCCCAGCAG	0.672000														31			63		0	0	0.014410	0	0
ISX	91464	broad.mit.edu	37	22	35478537	35478537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr22:35478537C>T	uc003anj.3	+	1	1207	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R86C(4)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCGGAGGGTTCGTACCACCTT	0.557000														55			41		0	0	0.010771	0	0
OR2T2	401992	broad.mit.edu	37	1	248617058	248617058	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:248617058G>A	uc001iek.1	+	0	960	c.960G>A	c.(958-960)gtG>gtA	p.V320V		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	320					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)			TGGCGACTGTGATCAGGAAGG	0.552000														32			19		0	0	0.014323	0	0
PEG3	5178	broad.mit.edu	37	19	57327422	57327422	+	Silent	SNP	G	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:57327422G>T	uc002qnu.2	-	6	2739	c.2388C>A	c.(2386-2388)ccC>ccA	p.P796P	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.P767P|PEG3_uc002qnv.2_Silent_p.P796P|PEG3_uc002qnw.2_Silent_p.P672P|PEG3_uc002qnx.2_Silent_p.P670P|PEG3_uc010etr.2_Silent_p.P796P	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	796					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)		TTGGTTTACTGGGCCCTGCTA	0.453000														31			63		6.20203e-27	7.00654e-27	0.014410	1	0
NUP210	23225	broad.mit.edu	37	3	13393591	13393592	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:13393591_13393592GG>AA	uc003bxv.1	-	18	2804_2805	c.2721_2722CC>TT	c.(2719-2724)caccct>caTTct	p.P908S	NUP210_uc003bxw.3_Missense_Mutation_p.P84S|NUP210_uc003bxx.3_Missense_Mutation_p.P580S	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	908					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGATGCCAGGGTGGTTGTAGA	0.629000														26			23		0	0	0.004672	0	0
C12orf63	374467	broad.mit.edu	37	12	97043713	97043713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:97043713G>A	uc021rcc.1	+	1	88	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	4										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AATGAGTGATGAAAATATGTC	0.318000														28			15		0	0	0.004007	0	0
CHRM2	1129	broad.mit.edu	37	7	136700446	136700446	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:136700446G>A	uc003vtf.1	+	3	1457	c.834G>A	c.(832-834)gaG>gaA	p.E278E	CHRM2_uc003vtg.1_Silent_p.E278E|CHRM2_uc003vti.1_Silent_p.E278E|CHRM2_uc003vtm.1_Silent_p.E278E|CHRM2_uc003vtj.1_Silent_p.E278E|CHRM2_uc003vtk.1_Silent_p.E278E|CHRM2_uc003vtl.1_Silent_p.E278E|CHRM2_uc003vtn.1_Silent_p.E278E|CHRM2_uc003vto.1_Silent_p.E278E|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.E278E	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	278					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TTCAGGGAGAGGAGAAGGAGA	0.488000														24			51		0	0	0.014410	0	0
TPTE2	93492	broad.mit.edu	37	13	20024238	20024238	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr13:20024238C>T	uc001umd.3	-	13	1162	c.951G>A	c.(949-951)gcG>gcA	p.A317A	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Silent_p.A206A|TPTE2_uc001ume.3_Silent_p.A240A|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	317	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R317Q(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TACAGTGAATCGCTACGATGT	0.318000														38			14		0	0	0.007291	0	0
KRT72	140807	broad.mit.edu	37	12	52979799	52979799	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:52979799C>T	uc001sar.2	-	8	1589	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G	KRT72_uc001saq.2_Silent_p.G501G|KRT72_uc010sns.1_Silent_p.G459G|KRT72_uc010snt.1_Silent_p.G313G	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	501	Tail.					keratin filament	structural molecule activity	p.S500S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CACAGCTGCTCCCCGAGGTTT	0.562000														98			72		0	0	0.014410	0	0
BAIAP3	8938	broad.mit.edu	37	16	1392054	1392055	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:1392054_1392055GG>AA	uc002clk.2	+	9	1107_1108	c.949_950GG>AA	c.(949-951)ggc>AAc	p.G317N	BAIAP3_uc010uuz.2_Missense_Mutation_p.G282N|BAIAP3_uc010uva.2_Missense_Mutation_p.G254N|BAIAP3_uc021tag.1_Missense_Mutation_p.G259N|BAIAP3_uc002clj.3_Missense_Mutation_p.G299N|BAIAP3_uc010uvb.2_Missense_Mutation_p.G334N|BAIAP3_uc010uvc.1_Missense_Mutation_p.G282N	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	317	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.G317C(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CGGCCTGAAGGGCATGGGCAGG	0.619000														25			17		0	0	0.004672	0	0
TROVE2	6738	broad.mit.edu	37	1	193045156	193045156	+	Silent	SNP	T	C	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:193045156T>C	uc001gss.3	+	2	1163	c.787T>C	c.(787-789)Tta>Cta	p.L263L	TROVE2_uc001gsu.2_5'UTR|TROVE2_uc001gsv.2_Silent_p.L263L|TROVE2_uc009wyp.3_Silent_p.L263L|TROVE2_uc001gsw.3_Silent_p.L263L|TROVE2_uc009wyq.3_Silent_p.L263L|TROVE2_uc001gsx.2_Silent_p.L263L	NM_001173524	NP_004591	P10155	RO60_HUMAN	Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA.	263	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	RNA binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						AACAAATCACTTAAAGTCTAA	0.343000														28			14		0	0	0.001855	0	0
FCGR1C	100132417	broad.mit.edu	37	1	149378145	149378145	+	RNA	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:149378145C>T	uc010pbh.2	+	5		c.1186C>T								Homo sapiens Fc fragment of IgG, high affinity Ic, receptor (CD64), pseudogene (FCGR1C), non-coding RNA.																		AGCAGCGGCTCAGTGGGTGGC	0.547000														21			6		0	0	0.002450	0	0
CBX8	57332	broad.mit.edu	37	17	77768488	77768488	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:77768488G>A	uc002jxd.2	-	4	1234	c.1116C>T	c.(1114-1116)acC>acT	p.T372T		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	Homo sapiens chromobox homolog 8 (CBX8), mRNA.	372					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TAATGGTGACGGTCAAAAAGT	0.542000														141			86		0	0	0.014410	0	0
NAALADL1	10004	broad.mit.edu	37	11	64821759	64821759	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:64821759G>T	uc001ocn.3	-	5	971	c.955C>A	c.(955-957)Ccc>Acc	p.P319T	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	319	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CGGAAGCCGGGACCCAACCTG	0.627000														43			22		2.41591e-17	2.71648e-17	0.004656	1	0
CADM2	253559	broad.mit.edu	37	3	85961555	85961555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:85961555C>T	uc003dql.3	+	4	541	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	CADM2_uc003dqj.3_Missense_Mutation_p.R179C|CADM2_uc003dqk.3_Missense_Mutation_p.R188C|CADM2_uc003dqm.2_Missense_Mutation_p.R71C|CADM2_uc021xay.1_Missense_Mutation_p.R71C|CADM2_uc021xaz.1_Missense_Mutation_p.R71C|CADM2_uc021xba.1_Missense_Mutation_p.R71C	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	179	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.R181L(1)|p.R181H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GGATGCAAATCGCAAGACATT	0.388000														11			17		0	0	0.004990	0	0
CYP4X1	260293	broad.mit.edu	37	1	47498960	47498960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:47498960C>T	uc001cqt.3	+	3	662	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	CYP4X1_uc001cqr.3_Missense_Mutation_p.R137C|CYP4X1_uc001cqs.3_Missense_Mutation_p.R73C	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	138						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CCAGCATCGTCGCCTACTAAC	0.428000														31			18		0	0	0.006122	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858710	9858710	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:9858710G>A	uc010uym.2	-	13	3001	c.2691C>T	c.(2689-2691)ctC>ctT	p.L897L	GRIN2A_uc002czo.4_Silent_p.L897L|GRIN2A_uc010uyn.2_Silent_p.L740L|GRIN2A_uc002czr.4_Silent_p.L897L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	897					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGACCGGAGGAGTTTTAACA	0.463000														97			55		0	0	0.014410	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123583	12123583	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:12123583C>T	uc003nac.3	+	3	3734	c.3555C>T	c.(3553-3555)caC>caT	p.H1185H	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1185					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.H1185H(2)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGGAAAGTCACCCTTCTCGGG	0.507000														28			13		0	0	0.013537	0	0
ABI1	10006	broad.mit.edu	37	10	27066037	27066037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr10:27066037G>A	uc001isx.3	-	2	643	c.419C>T	c.(418-420)cCt>cTt	p.P140L	ABI1_uc001itb.3_Missense_Mutation_p.P157L|ABI1_uc001ite.3_Missense_Mutation_p.P140L|ABI1_uc010qdh.2_Missense_Mutation_p.P140L|ABI1_uc010qdi.2_Intron|ABI1_uc001itc.3_Missense_Mutation_p.P140L|ABI1_uc001isy.3_Missense_Mutation_p.P140L|ABI1_uc001itd.3_Missense_Mutation_p.P140L|ABI1_uc010qdj.2_Missense_Mutation_p.P140L|ABI1_uc001ita.3_Missense_Mutation_p.P140L|ABI1_uc010qdk.2_Missense_Mutation_p.P140L|ABI1_uc001isz.3_Missense_Mutation_p.P140L|ABI1_uc010qdg.2_Missense_Mutation_p.P11L	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	Homo sapiens abl-interactor 1 (ABI1), transcript variant 1, mRNA.	140					actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTAATCGATAGGTTTCCGAAT	0.358000														8			24		0	0	0.004656	0	0
MND1	84057	broad.mit.edu	37	4	154335976	154335976	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:154335976T>A	uc003ink.2	+	7	674	c.585T>A	c.(583-585)ttT>ttA	p.F195L	MND1_uc021xtj.1_Non-coding_Transcript|MND1_uc021xtk.1_3'UTR	NM_032117	NP_115493	Q9BWT6	MND1_HUMAN	Homo sapiens meiotic nuclear divisions 1 homolog (S. cerevisiae) (MND1), transcript variant 1, mRNA.	195					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					ATAGAACTTTTGGAATTCCAG	0.269000														23			13		0	0	0.003163	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439344	150439344	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:150439344G>A	uc022apw.1	+	5	869	c.729G>A	c.(727-729)ggG>ggA	p.G243G	GIMAP1-GIMAP5_uc003whr.2_Silent_p.G39G	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		CAGGCTGCGGGAAAAGTGCCA	0.502000														41			15		0	0	0.004990	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140731171	140731171	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:140731171C>T	uc003ljo.2	+	0	1344	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.F448F	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	454	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTGTTTTCCATCAGGCCT	0.562000														23			14		0	0	0.001855	0	0
PRLR	5618	broad.mit.edu	37	5	35065904	35065904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:35065904G>A	uc003jjm.3	-	9	1715	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.P285S|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	386					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTTGTTTCAGGATTCTCTGGC	0.502000														50			32		0	0	0.009535	0	0
CD276	80381	broad.mit.edu	37	15	73995207	73995208	+	Nonsense_Mutation	DNP	CC	AT	AT			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:73995207_73995208CC>AT	uc002avv.1	+	3	747_748	c.513_514CC>AT	c.(511-516)taccct>taATct	p.171_172YP>*S	CD276_uc010bjd.1_Nonsense_Mutation_p.25_26YP>*S|CD276_uc002avu.1_Nonsense_Mutation_p.171_172YP>*S|CD276_uc002avw.1_Intron|CD276_uc010ulb.1_Nonsense_Mutation_p.117_118YP>*S	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	171	Ig-like C2-type 1.				T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						ACCAGGGCTACCCTGAGGCTGA	0.629000														27			17		0	0	0.004672	0	0
MGAM	8972	broad.mit.edu	37	7	141755436	141755436	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:141755436C>T	uc003vwy.3	+	27	3447	c.3393C>T	c.(3391-3393)ctC>ctT	p.L1131L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1131	Glucoamylase.				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)	CCAAGTACCTCTATGGCTTTG	0.532000														134			83		0	0	0.014410	0	0
MON1B	22879	broad.mit.edu	37	16	77232134	77232134	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:77232134C>A	uc002fez.3	+	5	1903	c.1573C>A	c.(1573-1575)Ccc>Acc	p.P525T	MON1B_uc010vnf.2_Missense_Mutation_p.P416T|MON1B_uc010vng.2_Missense_Mutation_p.P379T|MON1B_uc002ffa.3_Missense_Mutation_p.P405T|SYCE1L_uc010vnh.1_5'Flank	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA.	525							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TCGTTACCCACCCAAGTACTC	0.562000														22			44		6.36616e-10	7.09161e-10	0.014410	1	0
CACNA1H	8912	broad.mit.edu	37	16	1245969	1245969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:1245969G>A	uc002cks.3	+	4	837	c.589G>A	c.(589-591)Gct>Act	p.A197T	CACNA1H_uc002ckt.3_Missense_Mutation_p.A197T	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	197					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)	GAGCCTCTCGGCTATCAGGAC	0.662000														43			50		0	0	0.014410	0	0
OR4D9	390199	broad.mit.edu	37	11	59282923	59282923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:59282923G>A	uc010rkv.2	+	0	538	c.538G>A	c.(538-540)Gat>Aat	p.D180N		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C179C(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TTTCTACTGCGATGTCCCCCA	0.493000														84			53		0	0	0.014410	0	0
FAM65C	140876	broad.mit.edu	37	20	49225065	49225065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:49225065C>T	uc010zyt.2	-	10	1068	c.817G>A	c.(817-819)Gag>Aag	p.E273K	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.E269K|FAM65C_uc002xvn.1_Missense_Mutation_p.E269K	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	269										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCCGCAACTCCGTCACCTGG	0.682000														66			35		0	0	0.003271	0	0
SLC36A1	206358	broad.mit.edu	37	5	150867732	150867732	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:150867732G>C	uc003luc.3	+	10	1565	c.1348G>C	c.(1348-1350)Gtg>Ctg	p.V450L		NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA.	450				VV -> GG (in Ref. 2; AAP47194).	cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	GGGCTTTGTGGTGGGGACCTA	0.552000														22			22		0	0	0.002780	0	0
SNTB1	6641	broad.mit.edu	37	8	121706062	121706062	+	Missense_Mutation	SNP	G	A	A	rs144965371	byFrequency	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:121706062G>A	uc010mdg.3	-	1	884	c.658C>T	c.(658-660)Cct>Tct	p.P220S	SNTB1_uc003ype.3_Missense_Mutation_p.P220S	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	220	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	p.S219F(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CCTAACCGAGGGGATTCAGGC	0.557000														50			71		0	0	0.014410	0	0
SLC9A2	6549	broad.mit.edu	37	2	103236556	103236556	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:103236556G>A	uc002tca.3	+	0	391	c.249G>A	c.(247-249)gaG>gaA	p.E83E		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	83						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCCCCTTCGAGATCACCCTTT	0.637000														17			15		0	0	0.006122	0	0
ZNF718	255403	broad.mit.edu	37	4	155366	155366	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:155366C>T	uc003fzw.4	+	1	819	c.230C>T	c.(229-231)cCc>cTc	p.P77L	ZNF718_uc003fzt.4_Silent_p.S297S|ZNF718_uc003fzu.1_Intron|ZNF718_uc010iaz.3_Non-coding_Transcript	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 718 (ZNF718), mRNA.	0					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)		GGTCCTCATCCCTTAATGAAC	0.368000														5			8		0	0	0.003080	0	0
ANKAR	150709	broad.mit.edu	37	2	190554657	190554657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:190554657C>T	uc002uqw.2	+	2	1094	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqv.1_Missense_Mutation_p.P336S	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	336						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AATGAAAGTTCCATATTTAAG	0.269000														46			28		0	0	0.007291	0	0
OR2T12	127064	broad.mit.edu	37	1	248457919	248457919	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:248457919C>T	uc010pzj.2	-	1	963	c.963_splice	c.e1+1	p.*321_splice		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	0					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)			GACACTAGATCATCTTGACCT	0.403000														98			41		0	0	0.009718	0	0
TP63	8626	broad.mit.edu	37	3	189612137	189612137	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:189612137C>T	uc003fry.2	+	13	1978	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.S536F|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.S451F	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	630	Transactivation inhibition.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G629C(1)		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)		AGTGTGGGCTCCAGTGAGACC	0.572000										HNSCC(45;0.13)				18			43		0	0	0.014410	0	0
USP28	57646	broad.mit.edu	37	11	113673928	113673928	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:113673928C>T	uc001poh.3	-	22	2847	c.2814G>A	c.(2812-2814)cgG>cgA	p.R938R	USP28_uc001pog.3_Silent_p.R614R|USP28_uc010rwy.2_Silent_p.R781R|USP28_uc001poi.3_Silent_p.R261R	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	938					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTTTGACCCCCCGGCGGGGCC	0.463000														18			57		0	0	0.014410	0	0
ATP6AP1L	92270	broad.mit.edu	37	5	81614090	81614090	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:81614090A>G	uc003khv.3	+	9	1971	c.646A>G	c.(646-648)Agc>Ggc	p.S216G	ATP6AP1L_uc003khw.3_Missense_Mutation_p.S216G	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1-like (ATP6AP1L), mRNA.	216					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TAAACTGAGAAGCCAACAGAT	0.532000														52			25		0	0	0.003954	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926571	22926571	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:22926571C>T	uc002dli.3	+	1	864	c.792C>T	c.(790-792)ttC>ttT	p.F264F		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	264						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TGCAGTACTTCCCGCTAGCTC	0.607000														83			43		0	0	0.014410	0	0
MGAM	8972	broad.mit.edu	37	7	141756640	141756640	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:141756640C>G	uc003vwy.3	+	29	3645	c.3591C>G	c.(3589-3591)ttC>ttG	p.F1197L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1197	Glucoamylase.				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)	ATGTGACGTTCCAGCCCCTGC	0.522000														45			25		0	0	0.004656	0	0
COL9A1	1297	broad.mit.edu	37	6	70976452	70976452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:70976452C>T	uc003pfg.4	-	17	1468	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	COL9A1_uc003pfe.4_Missense_Mutation_p.E10K|COL9A1_uc003pff.4_Missense_Mutation_p.E194K	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	437	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCACCAATTTCTCCTTTAGCC	0.368000														91			54		0	0	0.014410	0	0
MIPOL1	145282	broad.mit.edu	37	14	38016157	38016157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:38016157C>T	uc001wud.3	+	14	1952	c.1310C>T	c.(1309-1311)aCc>aTc	p.T437I	MIPOL1_uc010ams.3_Missense_Mutation_p.T437I|MIPOL1_uc001wuc.3_Missense_Mutation_p.T437I|MIPOL1_uc001wue.3_Missense_Mutation_p.T406I|MIPOL1_uc010amt.3_Missense_Mutation_p.T256I	NM_001195297	NP_001182226	Q8TD10	MIPO1_HUMAN	Homo sapiens mirror-image polydactyly 1 (MIPOL1), transcript variant 2, mRNA.	437										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		GGAACCGGGACCATGAGGACA	0.483000														28			18		0	0	0.007413	0	0
MST4	51765	broad.mit.edu	37	X	131197504	131197504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:131197504C>T	uc004ewk.1	+	3	618	c.317C>T	c.(316-318)tCa>tTa	p.S106L	MST4_uc004ewl.1_Missense_Mutation_p.S29L|MST4_uc011mux.1_Missense_Mutation_p.S128L|MST4_uc010nrj.1_Missense_Mutation_p.S106L|MST4_uc004ewm.1_Missense_Mutation_p.S106L	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	106	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	Golgi membrane|cytosol	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GGCGGTGGTTCAGCACTGGAT	0.323000														17			33		0	0	0.005524	0	0
GTPBP5	26164	broad.mit.edu	37	20	60773847	60773847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:60773847G>A	uc002yce.4	+	4	664	c.626G>A	c.(625-627)gGa>gAa	p.G209E	GTPBP5_uc011aaf.2_Intron|GTPBP5_uc011aab.2_5'UTR|GTPBP5_uc011aac.2_5'UTR|GTPBP5_uc011aad.2_5'UTR|GTPBP5_uc011aae.2_5'UTR	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	Homo sapiens GTP binding protein 5 (putative) (GTPBP5), mRNA.	209	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)	15	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			TGTACCCCTGGACAGCCAGGA	0.622000														43			21		0	0	0.003954	0	0
GPER	2852	broad.mit.edu	37	7	1132360	1132360	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:1132360G>C	uc010ksd.1	+	1	1385	c.996G>C	c.(994-996)agG>agC	p.R332S	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.R332S|GPER_uc003ska.1_Missense_Mutation_p.R332S|GPER_uc003skb.2_Missense_Mutation_p.R332S|GPER_uc021zyo.1_Missense_Mutation_p.R332S	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	Homo sapiens G protein-coupled estrogen receptor 1 (GPER), transcript variant 4, mRNA.	332						Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		AGACCTTCAGGGACAAGCTGA	0.587000														42			24		0	0	0.006320	0	0
OR52M1	119772	broad.mit.edu	37	11	4566873	4566873	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:4566873C>T	uc010qyf.2	+	0	453	c.453C>T	c.(451-453)ctC>ctT	p.L151L		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGTTTCTCTCCTCCGGGGTG	0.527000														37			33		0	0	0.003271	0	0
CCDC88C	440193	broad.mit.edu	37	14	91780333	91780333	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:91780333C>T	uc010aty.3	-	14	1981	c.1827G>A	c.(1825-1827)ttG>ttA	p.L609L		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	609					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCTCAAACTCCAACTGGCTGA	0.617000														19			8		0	0	0.004482	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285919	248285919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:248285919G>A	uc001idy.1	+	0	482	c.482G>A	c.(481-483)gGa>gAa	p.G161E						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		ATTCACATGGGATCTGGAGAG	0.448000														184			29		0	0	0.006230	0	0
LRRC7	57554	broad.mit.edu	37	1	70504533	70504533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:70504533G>A	uc001dep.3	+	18	2942	c.2912G>A	c.(2911-2913)gGg>gAg	p.G971E	LRRC7_uc009wbg.3_Missense_Mutation_p.G255E|LRRC7_uc001deq.3_Missense_Mutation_p.G212E	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	971						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TATGCTTCTGGGAGTGATCAC	0.418000														20			22		0	0	0.002780	0	0
DDX60L	91351	broad.mit.edu	37	4	169377257	169377257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:169377257G>A	uc021xuh.1	-	5	880	c.770C>T	c.(769-771)tCg>tTg	p.S257L	DDX60L_uc003irq.4_Missense_Mutation_p.S257L|DDX60L_uc003irr.1_Missense_Mutation_p.S257L|DDX60L_uc003irs.1_5'UTR	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	257							ATP binding|ATP-dependent helicase activity|RNA binding	p.S257*(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTGGATGTCCGATCCTTCTGA	0.383000														13			12		0	0	0.003163	0	0
ZNF91	7644	broad.mit.edu	37	19	23542934	23542934	+	Silent	SNP	T	C	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:23542934T>C	uc002nre.3	-	3	2960	c.2847A>G	c.(2845-2847)caA>caG	p.Q949Q	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Silent_p.Q917Q	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	949						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGGTTGAGGATTGGCTAAAAG	0.403000														9			18		0	0	0.010504	0	0
EPB41L3	23136	broad.mit.edu	37	18	5416333	5416333	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr18:5416333G>A	uc002kmt.1	-	12	1637	c.1551C>T	c.(1549-1551)tcC>tcT	p.S517S	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	517	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CACAATGGGTGGATGGGGGTG	0.542000														44			21		0	0	0.012319	0	0
NAT2	10	broad.mit.edu	37	8	18257539	18257539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:18257539G>A	uc022asl.1	+	0	26	c.26G>A	c.(25-27)aGa>aAa	p.R9K	NAT2_uc003wyw.1_Missense_Mutation_p.R9K	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	9					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TATTTTGAAAGAATTGGCTAT	0.358000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					29			44		0	0	0.014410	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	136726	136726	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrGL000209.1:136726C>T	uc002quo.2	+	3	532	c.513C>T	c.(511-513)ttC>ttT	p.F171F	KIR2DL2_uc021vdc.1_Silent_p.F171F|KIR2DL2_uc021vdd.1_Silent_p.F171F|KIR2DL2_uc010evk.1_Silent_p.F71F|KIR2DL2_uc010evl.1_Intron|KIR2DL2_uc002qun.2_Silent_p.F171F	NM_012312	NP_036444	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 (KIR2DS2), mRNA.	171	Ig-like C2-type 2.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										AACGTAGGTTCTCTGCAGGGC	0.592000														7			26		0	0	0.009718	0	0
HSPA4L	22824	broad.mit.edu	37	4	128751808	128751808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:128751808C>T	uc003ifm.3	+	17	2435	c.2182C>T	c.(2182-2184)Cat>Tat	p.H728Y	HSPA4L_uc011cgr.2_Missense_Mutation_p.H695Y	NM_014278	NP_055093	O95757	HS74L_HUMAN	Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA.	728					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AAGATATGATCATCTGGATCC	0.313000														18			9		0	0	0.008291	0	0
CYP11A1	1583	broad.mit.edu	37	15	74659681	74659681	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:74659681G>A	uc002axt.2	-	0	401	c.246C>T	c.(244-246)ttC>ttT	p.F82F	CYP11A1_uc002axs.2_5'Flank|CYP11A1_uc010bjm.1_5'Flank|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.3_Silent_p.F82F	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	82					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CATACTTCTGGAAATTCTGGA	0.572000														50			35		0	0	0.007835	0	0
MOSPD2	158747	broad.mit.edu	37	X	14936887	14936887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:14936887G>A	uc004cwi.3	+	13	1526	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	MOSPD2_uc004cwj.3_Missense_Mutation_p.E405K	NM_152581	NP_001170946	Q8NHP6	MSPD2_HUMAN	Homo sapiens motile sperm domain containing 2 (MOSPD2), transcript variant 1, mRNA.	468						integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TAAAACCAGTGAAGATATATG	0.323000														27			19		0	0	0.008871	0	0
HES1	3280	broad.mit.edu	37	3	193854814	193854814	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:193854814A>G	uc003ftq.2	+	2	508	c.269A>G	c.(268-270)aAc>aGc	p.N90S	HES1_uc011bst.2_3'UTR	NM_005524	NP_005515	Q14469	HES1_HUMAN	Homo sapiens hairy and enhancer of split 1, (Drosophila) (HES1), mRNA.	90	Helix-loop-helix motif.				Notch signaling pathway|endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		CACCTCCGGAACCTGCAGCGG	0.637000														44			26		0	0	0.003954	0	0
FAT3	120114	broad.mit.edu	37	11	92087980	92087980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:92087980C>T	uc001pdj.4	+	0	2719	c.2702C>T	c.(2701-2703)tCt>tTt	p.S901F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	901	Cadherin 8.				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)				GCCAATTATTCTTTGAAAATA	0.433000										TCGA Ovarian(4;0.039)				326			218		0	0	0.014410	0	0
OR56A5	390084	broad.mit.edu	37	11	5988819	5988819	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:5988819G>A	uc010qzu.2	-	0	906	c.906C>T	c.(904-906)atC>atT	p.I302I		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	302						integral to membrane|plasma membrane	olfactory receptor activity										TTCCCTGCTTGATCTCCTTGG	0.433000														10			6		0	0	0.001984	0	0
CEACAM18	729767	broad.mit.edu	37	19	51983636	51983636	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:51983636C>T	uc002pwv.1	+	2	285	c.285C>T	c.(283-285)atC>atT	p.I95I		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	95						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AAATCTTCATCACCCAAACCC	0.512000														5			11		0	0	0.010729	0	0
LPIN1	23175	broad.mit.edu	37	2	11944620	11944620	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:11944620C>T	uc010yjm.2	+	16	2285	c.2232C>T	c.(2230-2232)tgC>tgT	p.C744C	LPIN1_uc010yjn.2_Silent_p.C659C|LPIN1_uc002rbt.3_Silent_p.C659C|LPIN1_uc010yjo.2_Silent_p.C160C	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	659	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AAGGCACGTGCCGCTGTGAGG	0.473000														36			31		0	0	0.010818	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146570	70146570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:70146570G>A	uc003hej.3	+	0	354	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	UGT2B28_uc010ihr.3_Missense_Mutation_p.E118K	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	118					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AATCCTGTGGGAATTTCATGA	0.299000														70			49		0	0	0.014410	0	0
SHROOM2	357	broad.mit.edu	37	X	9905555	9905555	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:9905555C>T	uc004csu.1	+	6	4059	c.3969C>T	c.(3967-3969)atC>atT	p.I1323I	SHROOM2_uc004csv.2_Silent_p.I158I|SHROOM2_uc011mic.1_Silent_p.I158I|SHROOM2_uc004csw.1_Silent_p.I158I	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1323	ASD2.				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)				CCAGGGAGATCGTGGGGAAGG	0.562000														51			31		0	0	0.013726	0	0
RP1	6101	broad.mit.edu	37	8	55534779	55534779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:55534779C>T	uc003xsd.1	+	2	866	c.718C>T	c.(718-720)Cct>Tct	p.P240S	RP1_uc011ldy.1_Missense_Mutation_p.P240S	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	240					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)			ATACTTGCTTCCTGCTAGATT	0.463000														21			17		0	0	0.004007	0	0
IQCA1	79781	broad.mit.edu	37	2	237272552	237272552	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:237272552C>T	uc002vwb.2	-	14	1798	c.1764G>A	c.(1762-1764)ggG>ggA	p.G588G	IQCA1_uc002vvz.1_Silent_p.G580G|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Silent_p.G539G	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	580							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GCATTTTCTTCCCTACCCCAG	0.512000														32			32		0	0	0.009535	0	0
GPR126	57211	broad.mit.edu	37	6	142737093	142737093	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:142737093A>G	uc010khe.3	+	19	3241	c.2830A>G	c.(2830-2832)Acc>Gcc	p.T944A	GPR126_uc010khc.3_Missense_Mutation_p.T944A|GPR126_uc010khd.3_Missense_Mutation_p.T916A|GPR126_uc010khf.3_Missense_Mutation_p.T916A	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	944					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CCTTCTGGCAACCTTTACCTG	0.428000														23			55		0	0	0.014410	0	0
FUS	2521	broad.mit.edu	37	16	31195198	31195198	+	Silent	SNP	A	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:31195198A>T	uc002ebf.3	+	3	315	c.210A>T	c.(208-210)tcA>tcT	p.S70S	FUS_uc002ebe.2_Silent_p.S70S|FUS_uc002ebg.3_5'UTR|FUS_uc002ebh.3_Silent_p.S69S|FUS_uc002ebk.1_5'Flank	NM_004960	NP_004951	P35637	FUS_HUMAN	Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.	70	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GAACTCAGTCAACTCCCCAGG	0.507000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""									58			53		0	0	0.014410	0	0
TMEM218	219854	broad.mit.edu	37	11	124971120	124971120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:124971120G>A	uc001qbs.3	-	2	842	c.190C>T	c.(190-192)Cca>Tca	p.P64S	TMEM218_uc010sax.2_Missense_Mutation_p.P64S|TMEM218_uc010saw.2_Missense_Mutation_p.P99S|TMEM218_uc001qbt.3_Missense_Mutation_p.P99S|TMEM218_uc010say.2_Non-coding_Transcript	NM_001080546	NP_001074015	A2RU14	TM218_HUMAN	Homo sapiens transmembrane protein 218 (TMEM218), mRNA.	64						integral to membrane				breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						TCTGGGGCTGGGAATTCACCA	0.453000														7			9		0	0	0.006214	0	0
REG4	83998	broad.mit.edu	37	1	120342462	120342462	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:120342462G>A	uc001eig.3	-	4	629	c.189C>T	c.(187-189)aaC>aaT	p.N63N	REG4_uc001eif.3_Silent_p.N63N	NM_001159352	NP_114433	Q9BYZ8	REG4_HUMAN	Homo sapiens regenerating islet-derived family, member 4 (REG4), transcript variant 1, mRNA.	63	C-type lectin.					extracellular region	sugar binding			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		GGTGGGCTCCGTTTCCGTAAG	0.512000														256			148		0	0	0.014410	0	0
ABP1	26	broad.mit.edu	37	7	150553642	150553642	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:150553642G>A	uc003why.1	+	2	4302	c.84G>A	c.(82-84)agG>agA	p.R28R	ABP1_uc003whz.1_Silent_p.R28R|ABP1_uc003wia.1_Silent_p.R28R	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	28				R -> A (in Ref. 7; AA sequence).	amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CTCTGCCCAGGAAGGCAGGGG	0.647000														30			23		0	0	0.003330	0	0
PRDM16	63976	broad.mit.edu	37	1	3321447	3321447	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:3321447G>A	uc001akf.3	+	6	1111	c.1029G>A	c.(1027-1029)gtG>gtA	p.V343V	PRDM16_uc001ake.3_Silent_p.V343V|PRDM16_uc009vlh.3_Silent_p.V44V|PRDM16_uc001akc.3_Silent_p.V343V	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	343					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AAAACTGCGTGAAGGTAACCT	0.637000			T	EVI1	"""MDS, AML"""									17			10		0	0	0.006214	0	0
GPR32	2854	broad.mit.edu	37	19	51274004	51274004	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:51274004C>T	uc010ycf.2	+	0	147	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	49						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTGTGGTTATCCTGTCTGCGT	0.592000														11			24		0	0	0.003330	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602124	58602124	+	Silent	SNP	A	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:58602124A>G	uc001nnd.4	-	5	794	c.663T>C	c.(661-663)tgT>tgC	p.C221C	GLYATL2_uc009ymq.3_Silent_p.C221C	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	221						mitochondrion	glycine N-acyltransferase activity	p.C221Y(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TTCTCAACTCACAGGACTGTT	0.433000														35			22		0	0	0.002780	0	0
MTHFR	4524	broad.mit.edu	37	1	11855394	11855394	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:11855394G>A	uc001atb.1	-	4	1059	c.861C>T	c.(859-861)tcC>tcT	p.S287S	MTHFR_uc001atc.2_Silent_p.S264S	NM_005957	NP_005948	P42898	MTHR_HUMAN	Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	264					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|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)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GCTGCCGAAGGGAGTGGTAGC	0.572000														20			10		0	0	0.008291	0	0
TLL1	7092	broad.mit.edu	37	4	166999147	166999147	+	Missense_Mutation	SNP	G	A	A	rs150952504		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:166999147G>A	uc003irh.2	+	17	3054	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	TLL1_uc011cjn.2_Missense_Mutation_p.E826K|TLL1_uc011cjo.2_Missense_Mutation_p.E627K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	803	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATGCACTTGGGAAATCAGCGC	0.488000														43			11		0	0	0.010729	0	0
COL5A1	1289	broad.mit.edu	37	9	137620555	137620555	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:137620555G>A	uc004cfe.3	+	5	1208	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	276	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.E276K(2)		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)		CTATTACTACGAATACCCCTA	0.607000														82			64		0	0	0.014410	0	0
IDE	3416	broad.mit.edu	37	10	94297304	94297304	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr10:94297304G>A	uc001kia.3	-	1	178	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	34					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTTTTTTGGAAACTGAAAA	0.323000														61			169		0	0	0.014410	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528801	77528801	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:77528801C>T	uc022bzh.1	-	0	443	c.443G>A	c.(442-444)tGg>tAg	p.W148*	CYSLTR1_uc004edb.3_Nonsense_Mutation_p.W148*|CYSLTR1_uc010nma.3_Nonsense_Mutation_p.W148*|CYSLTR1_uc010nmb.3_Nonsense_Mutation_p.W148*	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	Homo sapiens cysteinyl leukotriene receptor 1 (CYSLTR1), mRNA.	148					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	CACAAAAATCCAAATACCTAC	0.383000														19			14		0	0	0.002450	0	0
C4BPA	722	broad.mit.edu	37	1	207307801	207307801	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:207307801G>A	uc001hfo.3	+	8	1331	c.1137G>A	c.(1135-1137)agG>agA	p.R379R		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	379	Sushi 6.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CTCAACACAGGAAAAGTCGTC	0.388000														39			35		0	0	0.003755	0	0
FAH	2184	broad.mit.edu	37	15	80460457	80460457	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:80460457C>T	uc002bfm.2	+	5	683	c.519C>T	c.(517-519)atC>atT	p.I173I	FAH_uc002bfn.2_Silent_p.I103I	NM_000137	NP_000128	P16930	FAAA_HUMAN	Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA.	173					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCACCCCAATCCGAAGGCCCA	0.577000									Tyrosinemia, type 1					36			14		0	0	0.003163	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182352	140182352	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:140182352G>A	uc003lhf.2	+	0	1570	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.D524N	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	538	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCCGCTGGACCACGAGGA	0.682000														100			57		0	0	0.014410	0	0
ELMO2	63916	broad.mit.edu	37	20	45022720	45022721	+	Missense_Mutation	DNP	GG	AA	AA	rs147152999		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:45022720_45022721GG>AA	uc010zxr.1	-	3	296_297	c.86_87CC>TT	c.(85-87)ccc>cTT	p.P29L	ELMO2_uc002xrt.1_Missense_Mutation_p.P29L|ELMO2_uc002xru.1_Missense_Mutation_p.P29L|ELMO2_uc010zxs.1_5'UTR|ELMO2_uc002xrx.1_Missense_Mutation_p.P29L	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	29					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	SH3 domain binding|lyase activity|receptor tyrosine kinase binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TGGATGCCAGGGGCCGTTTCTG	0.510000														22			6		0	0	0.004672	0	0
TOM1L1	10040	broad.mit.edu	37	17	52991127	52991127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:52991127C>T	uc002iud.2	+	4	566	c.391C>T	c.(391-393)Cca>Tca	p.P131S	TOM1L1_uc002iub.3_Missense_Mutation_p.P96S|TOM1L1_uc002iuc.3_Missense_Mutation_p.P131S|TOM1L1_uc010dca.1_Missense_Mutation_p.P131S|TOM1L1_uc010wnb.1_Missense_Mutation_p.P124S|TOM1L1_uc010wnc.1_Missense_Mutation_p.P54S|TOM1L1_uc010dbz.2_Missense_Mutation_p.P54S|TOM1L1_uc010wnd.1_Missense_Mutation_p.P54S|TOM1L1_uc010dcb.1_Non-coding_Transcript	NM_005486	NP_005477	O75674	TM1L1_HUMAN	Homo sapiens target of myb1 (chicken)-like 1 (TOM1L1), mRNA.	131	VHS.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	Golgi stack|cytosol|endosome membrane|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						ACAGGGCTTCCCAGGAGGTGT	0.398000														55			35		0	0	0.006999	0	0
HOXD13	3239	broad.mit.edu	37	2	176959219	176959219	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:176959219C>A	uc002ukf.1	+	1	880	c.793C>A	c.(793-795)Cta>Ata	p.L265I		NM_000523	NP_000514	P35453	HXD13_HUMAN	Homo sapiens homeobox D13 (HOXD13), mRNA.	265					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GGATGTGGCTCTAAATCAGCC	0.468000			T	NUP98	AML*									30			19		2.94398e-08	3.25674e-08	0.007413	1	0
FOXK1	221937	broad.mit.edu	37	7	4780638	4780639	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:4780638_4780639CC>TT	uc003snc.1	+	1	740_741	c.730_731CC>TT	c.(730-732)ccg>TTg	p.P244L	FOXK1_uc003sna.1_Missense_Mutation_p.P81L|FOXK1_uc003snb.1_Missense_Mutation_p.P244L	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	244					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.S243F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CGTCCCCTCCCCGACGGGCACC	0.698000														26			11		0	0	0.004672	0	0
ANO2	57101	broad.mit.edu	37	12	5756941	5756941	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:5756941C>T	uc001qnm.2	-	15	1644	c.1572G>A	c.(1570-1572)aaG>aaA	p.K524K		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	529						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						GGAAACGATCCTTCCAGGTCA	0.433000														11			6		0	0	0.003080	0	0
AP3B1	8546	broad.mit.edu	37	5	77334866	77334866	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:77334866C>T	uc003kfj.3	-	23	2934	c.2809_splice	c.e23+1	p.D937_splice		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	937					endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TTAATATTTACCTATTGGATT	0.249000									Hermansky-Pudlak syndrome					16			10		0	0	0.006214	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032478	21032478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:21032478C>T	uc010sil.2	+	8	1309	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	SLCO1B3_uc001rek.3_Missense_Mutation_p.S415L|SLCO1B3_uc001rel.3_Missense_Mutation_p.S415L|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	415					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.S415S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTTCTTACTTCGATGATATCC	0.343000														37			28		0	0	0.005443	0	0
SNTA1	6640	broad.mit.edu	37	20	32000165	32000165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:32000165G>A	uc002wzd.1	-	4	1249	c.977C>T	c.(976-978)tCt>tTt	p.S326F	SNTA1_uc010zuf.1_Intron	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	Homo sapiens syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) (SNTA1), mRNA.	326	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CTCGGGGAGAGACAAGTAGAG	0.637000														14			10		0	0	0.008291	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450819	105450819	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:105450819G>T	uc022cca.1	+	0	1394	c.1394G>T	c.(1393-1395)aGt>aTt	p.S465I	MUM1L1_uc004emg.2_Missense_Mutation_p.S465I|MUM1L1_uc004emf.2_Missense_Mutation_p.S465I	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	465										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATAGTGAGAGTATTGACTGG	0.363000														12			39		2.38262e-10	2.66032e-10	0.010771	1	0
RAP1GAP2	23108	broad.mit.edu	37	17	2898644	2898644	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:2898644C>T	uc010ckd.3	+	12	1018	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	RAP1GAP2_uc010cke.3_Silent_p.L295L	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	310	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCGAGGAGGCCTGGACGTGAC	0.517000														37			79		0	0	0.014410	0	0
ELAVL2	1993	broad.mit.edu	37	9	23701406	23701406	+	Silent	SNP	T	C	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:23701406T>C	uc003zpu.3	-	4	959	c.684A>G	c.(682-684)ggA>ggG	p.G228G	ELAVL2_uc003zps.3_Silent_p.G228G|ELAVL2_uc003zpt.3_Silent_p.G228G|ELAVL2_uc003zpv.3_Silent_p.G228G|ELAVL2_uc003zpw.3_Silent_p.G228G	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	228					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GAGCTAGCGGTCCTGGATACC	0.468000														45			69		0	0	0.014410	0	0
ELAVL2	1993	broad.mit.edu	37	9	23731048	23731048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:23731048C>T	uc003zpu.3	-	2	580	c.305G>A	c.(304-306)gGa>gAa	p.G102E	ELAVL2_uc003zps.3_Missense_Mutation_p.G102E|ELAVL2_uc003zpt.3_Missense_Mutation_p.G102E|ELAVL2_uc003zpv.3_Missense_Mutation_p.G102E|ELAVL2_uc003zpw.3_Missense_Mutation_p.G102E	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	102	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AAGTCTCAATCCATTCAGGGT	0.348000														9			14		0	0	0.004007	0	0
GPR98	84059	broad.mit.edu	37	5	90016858	90016858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:90016858G>A	uc003kju.3	+	44	9826	c.9730G>A	c.(9730-9732)Gaa>Aaa	p.E3244K	GPR98_uc003kjt.3_Missense_Mutation_p.E950K|GPR98_uc003kjv.3_Missense_Mutation_p.E844K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3244					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACAGTATCTGAAACAGCCTT	0.348000														59			35		0	0	0.012213	0	0
SLIT2	9353	broad.mit.edu	37	4	20618795	20618795	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:20618795G>A	uc003gpr.1	+	34	4314	c.4110G>A	c.(4108-4110)cgG>cgA	p.R1370R	SLIT2_uc003gps.1_Silent_p.R1362R	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1370					Roundabout signaling pathway|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|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan 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						GTGACCAACGGACCAATGACC	0.552000														53			28		0	0	0.010818	0	0
TSPAN16	26526	broad.mit.edu	37	19	11422824	11422824	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:11422824C>T	uc002mqv.1	+	5	763	c.613C>T	c.(613-615)Cat>Tat	p.H205Y	TSPAN16_uc002mqu.1_Non-coding_Transcript|AF161365_uc002mqw.1_Intron	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	Homo sapiens tetraspanin 16 (TSPAN16), mRNA.	205						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GGGCTGTTTCCATAAACTCCT	0.502000														6			7		0	0	0.006214	0	0
MGAM	8972	broad.mit.edu	37	7	141755883	141755883	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:141755883C>T	uc003vwy.3	+	28	3621	c.3567C>T	c.(3565-3567)aaC>aaT	p.N1189N		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1189	Glucoamylase.				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)	TCCTGCTGAACAGCAATGCCA	0.512000														22			12		0	0	0.010729	0	0
GLDN	342035	broad.mit.edu	37	15	51669683	51669683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:51669683G>A	uc002aba.3	+	1	570	c.401G>A	c.(400-402)gGc>gAc	p.G134D	GLDN_uc010bez.1_Intron|GLDN_uc002abb.3_Missense_Mutation_p.G10D	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	134					cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AGCACCAAGGGCATCTGCCTC	0.602000														35			15		0	0	0.006122	0	0
abParts	0	broad.mit.edu	37	14	106405762	106405762	+	RNA	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:106405762C>T	uc021ser.1	-	3033		c.50030G>A								Parts of antibodies, mostly variable regions.																		GTATGTCCTTCCCAGCCACTC	0.507000														78			47		0	0	0.014410	0	0
OR5M10	390167	broad.mit.edu	37	11	56344610	56344610	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:56344610C>T	uc001niz.1	-	0	588	c.588G>A	c.(586-588)aaG>aaA	p.K196K	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ACATTGCCATCTTTTTGACAC	0.443000														38			15		0	0	0.007413	0	0
DST	667	broad.mit.edu	37	6	56494202	56494202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:56494202G>A	uc003pcy.4	-	17	2818	c.2710C>T	c.(2710-2712)Cat>Tat	p.H904Y	DST_uc021zay.1_Missense_Mutation_p.H1270Y|DST_uc021zax.1_Missense_Mutation_p.H904Y|DST_uc003pdc.4_Missense_Mutation_p.H904Y|DST_uc003pdd.4_Missense_Mutation_p.H904Y	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	1230	SH3.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTAAGGCATGGAATACCTGT	0.338000														38			24		0	0	0.003954	0	0
NBPF1	55672	broad.mit.edu	37	1	16892178	16892178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:16892178G>A	uc009vos.1	-	26	3902	c.3014C>T	c.(3013-3015)tCc>tTc	p.S1005F	AB1_uc001ayw.3_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	1005	NBPF 6.					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)		TGCATAAAAGGAACTTCCATA	0.453000														844			43		0	0	0.004878	0	0
DNAH5	1767	broad.mit.edu	37	5	13850770	13850770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:13850770G>A	uc003jfd.2	-	30	5147	c.5105C>T	c.(5104-5106)tCc>tTc	p.S1702F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1702	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCAGTAAGGGATTTCTGGCA	0.468000									Kartagener syndrome					33			16		0	0	0.007413	0	0
RBM11	54033	broad.mit.edu	37	21	15599451	15599451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr21:15599451C>T	uc002yjo.4	+	4	725	c.683C>T	c.(682-684)tCa>tTa	p.S228L	RBM11_uc002yjn.4_Missense_Mutation_p.S114L|RBM11_uc002yjp.4_Missense_Mutation_p.S114L	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	228							RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		GGACCCAGCTCATATAAATGG	0.428000														41			90		0	0	0.014410	0	0
THSD7B	80731	broad.mit.edu	37	2	138420986	138420986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:138420986G>A	uc002tva.1	+	24	4402	c.4402G>A	c.(4402-4404)Gag>Aag	p.E1468K	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGGCTATACAGAGATAATGAA	0.368000														4			3		0	0	0.009096	0	0
PLB1	151056	broad.mit.edu	37	2	28836922	28836922	+	Missense_Mutation	SNP	C	T	T	rs150999428	byFrequency	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:28836922C>T	uc002rmb.2	+	43	3198	c.3154C>T	c.(3154-3156)Cgg>Tgg	p.R1052W	PLB1_uc010ezj.2_Missense_Mutation_p.R1041W|PLB1_uc002rme.2_Missense_Mutation_p.R17W	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1052	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAGAACCCCTCGGAATAGTAA	0.463000														88			53		0	0	0.014410	0	0
FIGF	2277	broad.mit.edu	37	X	15365419	15365419	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:15365419A>T	uc004cwt.2	-	5	1272	c.805T>A	c.(805-807)Tgc>Agc	p.C269S	FIGF_uc022bth.1_Non-coding_Transcript	NM_004469	NP_004460	O43915	VEGFD_HUMAN	Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.	269	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				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)					ACACACTCGCAACGATCTTCG	0.468000														60			53		0	0	0.014410	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751403	26751403	+	Silent	SNP	C	T	T	rs149543241		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:26751403C>T	uc003cdp.3	+	1	829	c.240C>T	c.(238-240)ccC>ccT	p.P80P	LRRC3B_uc003cdq.3_Silent_p.P80P|LRRC3B_uc021wuj.1_Silent_p.P80P	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	80						integral to membrane		p.P80P(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CATCTATTCCCAATGAAATTT	0.403000														33			23		0	0	0.002780	0	0
CIITA	4261	broad.mit.edu	37	16	11000503	11000503	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:11000503C>T	uc002daj.4	+	10	1290	c.1157C>T	c.(1156-1158)cCg>cTg	p.P386L	CIITA_uc002dai.4_Missense_Mutation_p.P385L|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Missense_Mutation_p.P385L|CIITA_uc002dah.2_Missense_Mutation_p.P337L|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	385					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CTGGCCACCCCGGACTGGGCA	0.677000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									17			11		0	0	0.010729	0	0
RUFY4	285180	broad.mit.edu	37	2	218940309	218940309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:218940309C>T	uc010fvl.2	+	8	1612	c.1094C>T	c.(1093-1095)tCg>tTg	p.S365L	RUFY4_uc002vgw.3_Missense_Mutation_p.S192L	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	365							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCT	0.592000														17			18		0	0	0.006122	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138742013	138742013	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:138742013G>A	uc004cgr.4	-	6	1015	c.1015C>T	c.(1015-1017)Cag>Tag	p.Q339*	CAMSAP1_uc004cgq.4_Nonsense_Mutation_p.Q229*|CAMSAP1_uc010nbg.3_Nonsense_Mutation_p.Q61*	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	339						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCCCTGGGCTGAACAAAATCT	0.428000														11			13		0	0	0.004007	0	0
PTPRT	11122	broad.mit.edu	37	20	40864896	40864896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:40864896C>T	uc002xkg.3	-	14	2499	c.2315G>A	c.(2314-2316)aGa>aAa	p.R772K	PTPRT_uc010ggj.3_Missense_Mutation_p.R791K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	772					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)				ATAAGCATTTCTTCTATATAT	0.368000														46			31		0	0	0.012213	0	0
GALNTL6	442117	broad.mit.edu	37	4	173930333	173930333	+	Missense_Mutation	SNP	G	A	A	rs146923140		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:173930333G>A	uc003isv.3	+	10	2112	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	459	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CCACAGATCCGAAATGTGGCA	0.443000														51			65		0	0	0.014410	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247212	142247212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:142247212C>T	uc003vyd.4	-	1	269	c.244G>A	c.(244-246)Gat>Aat	p.D82N	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		AAGAACCGATCGTTGGGCAGC	0.572000														54			24		0	0	0.003330	0	0
DCC	1630	broad.mit.edu	37	18	50929209	50929209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr18:50929209C>T	uc002lfe.2	+	18	3497	c.2881C>T	c.(2881-2883)Cgt>Tgt	p.R961C	DCC_uc010xdr.1_Missense_Mutation_p.R789C|DCC_uc010dpf.2_Missense_Mutation_p.R596C	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	961	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGGGAAGCCTCGTGCCGTCAT	0.512000														132			80		0	0	0.014410	0	0
DVL3	1857	broad.mit.edu	37	3	183884653	183884653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:183884653C>T	uc003fms.3	+	10	1228	c.1088C>T	c.(1087-1089)tCc>tTc	p.S363F	DVL3_uc011bqw.2_Intron|DVL3_uc003fmt.3_Missense_Mutation_p.S34F|DVL3_uc003fmu.3_Missense_Mutation_p.S195F	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	363					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GCCTGGGTCTCCCACACTGCA	0.647000														42			24		0	0	0.003954	0	0
NOP2	4839	broad.mit.edu	37	12	6669270	6669270	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:6669270G>T	uc021qtw.1	-	14	1951	c.1771C>A	c.(1771-1773)Cag>Aag	p.Q591K	NOP2_uc009zeq.2_Missense_Mutation_p.Q307K|NOP2_uc021qtx.1_Missense_Mutation_p.Q591K	NM_001033714	NP_006161	P46087	NOP2_HUMAN	Homo sapiens NOP2 nucleolar protein homolog (yeast) (NOP2), transcript variant 2, mRNA.	595					positive regulation of cell proliferation|rRNA processing	nucleolus	RNA binding|S-adenosylmethionine-dependent methyltransferase activity|protein binding	p.S590C(1)		breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TTACCTGTCTGGGACTGAGGG	0.453000														24			26		7.92952e-12	8.8744e-12	0.003954	1	0
NTRK3	4916	broad.mit.edu	37	15	88476364	88476364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:88476364C>T	uc002bme.2	-	15	2074	c.1768G>A	c.(1768-1770)Gag>Aag	p.E590K	NTRK3_uc002bmh.2_Missense_Mutation_p.E582K|NTRK3_uc002bmf.2_Missense_Mutation_p.E590K|NTRK3_uc021sua.1_Missense_Mutation_p.E582K|NTRK3_uc010upl.1_Missense_Mutation_p.E492K|NTRK3_uc010bnh.1_Missense_Mutation_p.E582K	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	590	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTGAGCAGCTCGGCCTCCCTC	0.562000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				27			30		0	0	0.009535	0	0
NUMA1	4926	broad.mit.edu	37	11	71732260	71732260	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:71732260G>A	uc001orl.1	-	7	622	c.450C>T	c.(448-450)ttC>ttT	p.F150F	NUMA1_uc001ork.1_Silent_p.F150F|NUMA1_uc001orm.1_Silent_p.F150F|NUMA1_uc009ysx.1_Silent_p.F150F|NUMA1_uc001oro.1_Silent_p.F150F|NUMA1_uc009ysy.2_Silent_p.F150F|NUMA1_uc001orp.3_Silent_p.F150F|NUMA1_uc001orq.3_Silent_p.F150F|NUMA1_uc021qmw.1_Silent_p.F150F	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	150					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTTTCTGTAGGAAGTTCTCTA	0.468000			T	RARA	APL									24			18		0	0	0.010504	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16847786	16847786	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:16847786C>T	uc010rcu.1	-	9	1239	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G	PLEKHA7_uc001mmo.3_Silent_p.G408G|PLEKHA7_uc001mmn.3_Silent_p.G116G	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	408					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						ACCCACCAGTCCCATTCTGTT	0.597000														74			46		0	0	0.014410	0	0
MGAM	8972	broad.mit.edu	37	7	141721452	141721452	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:141721452G>C	uc003vwy.3	+	5	679	c.625G>C	c.(625-627)Gct>Cct	p.A209P		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	209	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)	CAGTGGAAATGCTGCTGCTTC	0.428000														126			33		0	0	0.009535	0	0
LYSMD4	145748	broad.mit.edu	37	15	100269697	100269697	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:100269697G>A	uc002bvl.3	-	5	798	c.525C>T	c.(523-525)gaC>gaT	p.D175D	LYSMD4_uc002bvj.1_Intron|LYSMD4_uc010bou.1_Intron|LYSMD4_uc002bvk.3_Silent_p.D174D|LYSMD4_uc010bov.3_Silent_p.D174D	NM_152449	NP_689662	Q5XG99	LYSM4_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 4 (LYSMD4), mRNA.	174					cell wall macromolecule catabolic process	integral to membrane				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			CAATATCCTGGTCAATCCCCT	0.582000														47			29		0	0	0.008361	0	0
MCHR2	84539	broad.mit.edu	37	6	100368857	100368857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:100368857C>T	uc003pqh.1	-	5	1297	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	MCHR2_uc003pqi.1_Missense_Mutation_p.E328K	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	328						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTGTTGATTTCCTTCTCAGTC	0.413000														14			46		0	0	0.014410	0	0
OR2T33	391195	broad.mit.edu	37	1	248436656	248436656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:248436656C>T	uc010pzi.2	-	0	461	c.461G>A	c.(460-462)gGg>gAg	p.G154E		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G154G(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGCAGGAGCCCGTCAGCTGC	0.582000														74			26		0	0	0.006320	0	0
LRIG1	26018	broad.mit.edu	37	3	66502043	66502043	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:66502043T>A	uc003dmx.3	-	2	319	c.305A>T	c.(304-306)aAt>aTt	p.N102I	LRIG1_uc010hnz.3_5'UTR|LRIG1_uc010hoa.3_Missense_Mutation_p.N102I	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	102						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TGTCAACTCATTATTATTGAG	0.438000														303			38		0	0	0.005524	0	0
DAK	26007	broad.mit.edu	37	11	61105547	61105547	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:61105547G>A	uc001nre.3	+	2	395	c.138G>A	c.(136-138)aaG>aaA	p.K46K	DDB1_uc010rlf.1_Intron|DAK_uc009ynm.1_5'UTR	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	Homo sapiens dihydroxyacetone kinase 2 homolog (S. cerevisiae) (DAK), mRNA.	46	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						ACAGCCTCAAGGGCCGGGTGG	0.672000														36			31		0	0	0.013726	0	0
BTBD11	121551	broad.mit.edu	37	12	107713769	107713769	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:107713769T>A	uc001tmk.1	+	0	1573	c.1052T>A	c.(1051-1053)cTg>cAg	p.L351Q	BTBD11_uc009zut.1_Missense_Mutation_p.L351Q|BTBD11_uc001tmj.3_Missense_Mutation_p.L351Q	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	351						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						GTGGAGACCCTGGAGCACACG	0.687000														11			7		0	0	0.001984	0	0
KDM4B	23030	broad.mit.edu	37	19	5110694	5110695	+	Missense_Mutation	DNP	CC	TT	TT	rs147526641	byFrequency	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:5110694_5110695CC>TT	uc010xim.2	+	8	1088_1089	c.980_981CC>TT	c.(979-981)ccc>cTT	p.P327L	KDM4B_uc010xil.1_Missense_Mutation_p.P327L|KDM4B_uc002mbq.4_Missense_Mutation_p.P327L|KDM4B_uc002mbr.4_Missense_Mutation_p.P85L	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	327					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATCCTGCAGCCCGAGCGCTACG	0.668000														6			13		0	0	0.004672	0	0
OR4C3	256144	broad.mit.edu	37	11	48346890	48346890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:48346890G>A	uc010rhv.2	+	0	398	c.398G>A	c.(397-399)gGa>gAa	p.G133E		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L132F(1)|p.G133R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CATTTTTTGGGAGGTGTTGAG	0.473000														222			27		0	0	0.004289	0	0
KIAA1653	0	broad.mit.edu	37	22	20296880	20296880	+	RNA	SNP	A	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr22:20296880A>G	uc002zrw.1	+	2		c.3032A>G								Homo sapiens mRNA for KIAA1653 protein, partial cds.																		GGCCTCCCACAATGAGGACAC	0.622000														41			7		0	0	0.010729	0	0
RBM10	8241	broad.mit.edu	37	X	47044469	47044469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:47044469G>A	uc004dhi.3	+	17	2390	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K	RBM10_uc004dhf.3_Missense_Mutation_p.E656K|RBM10_uc004dhh.3_Missense_Mutation_p.E655K|RBM10_uc010nhq.3_Missense_Mutation_p.E579K|RBM10_uc004dhg.3_Missense_Mutation_p.E578K	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	656					RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CAAGGACATGGAACGCTGGGC	0.552000														17			7		0	0	0.003080	0	0
TEKT5	146279	broad.mit.edu	37	16	10729637	10729637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:10729637C>T	uc002czz.1	-	5	1297	c.1225G>A	c.(1225-1227)Gac>Aac	p.D409N		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	409					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGCGGGATGTCCCTGCACAGC	0.632000														77			51		0	0	0.014410	0	0
DGCR8	54487	broad.mit.edu	37	22	20073709	20073709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr22:20073709C>T	uc002zri.3	+	1	652	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	DGCR8_uc010grz.3_Missense_Mutation_p.L75F|DGCR8_uc002zrj.3_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	75	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGCTTCTCTTCTCTCCAAAGG	0.597000														37			20		0	0	0.010504	0	0
CCDC27	148870	broad.mit.edu	37	1	3673360	3673360	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:3673360C>T	uc001akv.2	+	3	698	c.617C>T	c.(616-618)tCc>tTc	p.S206F		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	206										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGGAGAAAATCCCAGACTTTG	0.542000														42			33		0	0	0.013726	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	38943	38943	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrGL000218.1:38943A>G	uc011mfn.2	-	4	609	c.520T>C	c.(520-522)Tgt>Cgt	p.C174R	LOC100233156_uc003jah.2_3'UTR					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TGGCGGTAACATCCTTCTCCA	0.562000														17			12		0	0	0.001855	0	0
ANKS6	203286	broad.mit.edu	37	9	101552822	101552822	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:101552822C>T	uc004ayu.3	-	1	447	c.426G>A	c.(424-426)cgG>cgA	p.R142R	ANKS6_uc004ayy.2_Non-coding_Transcript	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	142										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGGCCCCCAGCCGGTTCTGGG	0.592000														13			9		0	0	0.004482	0	0
SETBP1	26040	broad.mit.edu	37	18	42643245	42643245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr18:42643245G>A	uc010dni.3	+	5	4669	c.4373G>A	c.(4372-4374)aGg>aAg	p.R1458K		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1458						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)		GGGCGTCCCAGGAAGCAGCCC	0.562000									Schinzel-Giedion syndrome					8			3		0	0	0.004672	0	0
MXRA5	25878	broad.mit.edu	37	X	3228724	3228724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:3228724C>T	uc004crg.4	-	6	7677	c.7520G>A	c.(7519-7521)aGt>aAt	p.S2507N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2507	Ig-like C2-type 9.					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)				CTTCCTCAAACTCCTGATGTC	0.587000														17			3		0	0	0.009096	0	0
ABO	28	broad.mit.edu	37	9	136131545	136131545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:136131545C>T	uc004cda.1	-	7	595	c.570G>A	c.(568-570)atG>atA	p.M190I	ABO_uc010naf.1_Missense_Mutation_p.M50I|ABO_uc011mcz.1_Missense_Mutation_p.M50I|ABO_uc010nag.1_Missense_Mutation_p.M50I	NM_020469	NP_065202	P16442	BGAT_HUMAN	Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.	191					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		AGTCACTGATCATCTCCATGC	0.662000														5			9		0	0	0.006214	0	0
SCN10A	6336	broad.mit.edu	37	3	38753715	38753715	+	Silent	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:38753715G>A	uc003ciq.3	-	21	4026	c.4026C>T	c.(4024-4026)ttC>ttT	p.F1342F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1342					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CATTGACCCAGAAGAAGCTGC	0.428000														87			42		0	0	0.008740	0	0
KLHL4	56062	broad.mit.edu	37	X	86868974	86868974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:86868974G>A	uc004efa.2	+	1	699	c.517G>A	c.(517-519)Gag>Aag	p.E173K	KLHL4_uc004efb.2_Missense_Mutation_p.E173K	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	173						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TCGTAAAATGGAGAACTACTT	0.408000														37			27		0	0	0.006320	0	0
ZNF229	7772	broad.mit.edu	37	19	44946773	44946773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:44946773C>T	uc002oze.1	-	3	501	c.67G>A	c.(67-69)Gat>Aat	p.D23N	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.D23N	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TCCTCCCTATCTTGGGAAATG	0.483000														12			28		0	0	0.006320	0	0
ATF6B	1388	broad.mit.edu	37	6	32083621	32083621	+	Silent	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:32083621C>T	uc003nzn.3	-	17	2040	c.2007G>A	c.(2005-2007)caG>caA	p.Q669Q	TNXB_uc010jts.1_Intron|ATF6B_uc003nzm.1_Intron|ATF6B_uc003nzo.3_Silent_p.Q666Q	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	669					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						TTGGGGATGGCTGTTTTCGGA	0.612000														305			199		0	0	0.014410	0	0
GPR179	440435	broad.mit.edu	37	17	36484236	36484236	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:36484236C>T	uc002hpz.3	-	10	5237	c.5216G>A	c.(5215-5217)gGa>gAa	p.G1739E		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1739						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTCCCTGGGTCCAAGATCTGC	0.592000														7			16		0	0	0.004990	0	0
CCDC146	57639	broad.mit.edu	37	7	76908111	76908111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:76908111C>T	uc003uga.3	+	11	1610	c.1483C>T	c.(1483-1485)Ctt>Ttt	p.L495F	CCDC146_uc010ldp.3_Missense_Mutation_p.L209F	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	495										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)				AGCAAAGGATCTTGAAATCAG	0.303000														16			16		0	0	0.004990	0	0
OTOP3	347741	broad.mit.edu	37	17	72937741	72937741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:72937741G>A	uc010wrr.2	+	1	327	c.327G>A	c.(325-327)atG>atA	p.M109I	OTOP3_uc010wrq.2_Missense_Mutation_p.M91I	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	109						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TCTGCAGCATGATCTTCAACA	0.607000														44			29		0	0	0.009535	0	0
ELP4	26610	broad.mit.edu	37	11	31669377	31669377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:31669377C>T	uc001mtc.3	+	7	1051	c.1016C>T	c.(1015-1017)cCa>cTa	p.P339L	ELP4_uc001mtb.3_Missense_Mutation_p.P339L|ELP4_uc010rdz.2_Missense_Mutation_p.P340L			Q96EB1	ELP4_HUMAN	Homo sapiens elongation protein 4 homolog (S. cerevisiae) (ELP4), mRNA.	339					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|cytoplasm|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GAAACTAACCCATTGTATAAG	0.398000														26			17		0	0	0.004990	0	0
PDE4D	5144	broad.mit.edu	37	5	58272190	58272190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:58272190G>A	uc003jsa.2	-	12	1989	c.1817C>T	c.(1816-1818)tCc>tTc	p.S606F	PDE4D_uc003jrx.2_Missense_Mutation_p.S470F|PDE4D_uc003jry.3_Missense_Mutation_p.S304F|PDE4D_uc003jrz.3_Missense_Mutation_p.S542F|PDE4D_uc003jsb.3_Missense_Mutation_p.S545F|PDE4D_uc003jrt.2_Missense_Mutation_p.S304F|PDE4D_uc003jru.3_Missense_Mutation_p.S382F|PDE4D_uc003jrv.2_Missense_Mutation_p.S476F|PDE4D_uc003jrw.2_Missense_Mutation_p.S484F|PDE4D_uc003jrs.2_Missense_Mutation_p.S315F	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA.	606					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AATCCTATCGGAATAATTATC	0.388000														10			8		0	0	0.006214	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377731	113377741	+	Frame_Shift_Del	DEL	TCTGATAATGC	-	-			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:113377731_113377741delTCTGATAATGC	uc003eam.3	-	6	3199_3209	c.2788_2798delGCATTATCAGA	c.(2788-2799)gcattatcagatfs	p.A930fs	KIAA2018_uc003eal.3_Frame_Shift_Del_p.A874fs	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	930					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TTTGGCAGCATCTGATAATGCTAAACTACTT	0.422													---	25	---	---	26	---					
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	-	-	rs3045983		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:79950742_79950750delCCCCCAGCT	uc003kgz.3	+	0	449_457	c.196_204delCCCCCAGCT	c.(196-204)cccccagctdel	p.PPA66del	DHFR_uc003kgy.1_5'UTR|DHFR_uc011ctl.2_In_Frame_Del_p.11_14GAGG>G|DHFR_uc011ctm.2_Non-coding_Transcript|DHFR_uc010jap.2_Non-coding_Transcript	NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	66					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)					---	3	---	---	6	---					
BAI1	575	broad.mit.edu	37	8	143561149	143561149	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:143561149delG	uc003ywm.3	+	7	2005	c.1822delG	c.(1822-1824)gccfs	p.A608fs		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	608					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCCCGCAACGCCACAGGTGA	0.647													---	91	---	---	39	---					
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	-	-			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:49087434_49087436delATG	uc001rsd.4	-	8	1884_1886	c.1561_1563delCAT	c.(1561-1563)catdel	p.H521del	CCNT1_uc009zkz.2_In_Frame_Del_p.H236del|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	521	His-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443													---	322	---	---	7	---					
TSC22D1	8848	broad.mit.edu	37	13	45148703	45148708	+	In_Frame_Del	DEL	TGTTGC	-	-	rs112613609		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr13:45148703_45148708delTGTTGC	uc001uzn.4	-	0	1994_1999	c.1503_1508delGCAACA	c.(1501-1509)cagcaacaa>caa	p.501_503QQQ>Q	TSC22D1_uc001uzo.2_In_Frame_Del_p.501_503QQQ>Q|TSC22D1-AS1_uc021rjb.1_5'Flank	NM_183422	NP_904358	Q15714	T22D1_HUMAN	Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.	501	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgttgctgctgctgct	0.510													---	98	---	---	8	---					
CNOT1	23019	broad.mit.edu	37	16	58589801	58589802	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:58589801_58589802insA	uc002env.3	-	19	2783_2784	c.2490_2491insT	c.(2488-2493)tctcagfs	p.S830fs	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Frame_Shift_Ins_p.S825fs|CNOT1_uc002enx.3_Frame_Shift_Ins_p.S830fs|CNOT1_uc002enz.1_Frame_Shift_Ins_p.S259fs	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	830					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGCCACACCTGAGACAAGTCCG	0.441													---	43	---	---	28	---					
HSF5	124535	broad.mit.edu	37	17	56565433	56565434	+	In_Frame_Ins	INS	-	CGGCCC	CGGCCC			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:56565433_56565434insCGGCCC	uc002iwi.1	-	0	326_327	c.202_203insGGGCCG	c.(202-204)gag>gGGGCCGag	p.67_68insGA		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	67						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGCTCGGGCTcggccccggcc	0.723													---	25	---	---	7	---					
CYTH2	9266	broad.mit.edu	37	19	48981352	48981352	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:48981352delC	uc002pjj.4	+	8	1135	c.835delC	c.(835-837)cgcfs	p.R279fs		NM_017457	NP_059431	Q99418	CYH2_HUMAN	Homo sapiens cytohesin 2 (CYTH2), transcript variant 1, mRNA.	280	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTGGAAGCGGCGCTGGTTTAT	0.657													---	11	---	---	40	---