Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MYT1L	23040	broad.mit.edu	37	2	1893050	1893050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:1893050G>A	ENST00000399161.2	-	16	3230	c.2483C>T	c.(2482-2484)cCc>cTc	p.P828L	MYT1L_ENST00000428368.2_Missense_Mutation_p.P826L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	828					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TATCCTCCGGGGTTTCATTTT	0.542000													14	43					0	0	0.00121646	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558349	113558349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:113558349C>T	ENST00000284601.3	-	1	771	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	235					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GGCTCTTGTTCTTTCTTTTGA	0.333000													47	170					0	0	0.000781405	0	0
SI	6476	broad.mit.edu	37	3	164716332	164716332	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:164716332G>A	ENST00000264382.3	-	38	4598	c.4536C>T	c.(4534-4536)atC>atT	p.I1512I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1512	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACTTACCAATGATTGATTTGT	0.393000										HNSCC(35;0.089)			38	45					0	0	0.00128727	0	0
MYT1L	23040	broad.mit.edu	37	2	1926499	1926499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:1926499C>T	ENST00000399161.2	-	10	1789	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	MYT1L_ENST00000428368.2_Missense_Mutation_p.E348K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	348					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGATTCCTCTCCTGCGGGTTG	0.572000													27	19					0	0	0.00106085	0	0
ANKRD52	283373	broad.mit.edu	37	12	56637082	56637082	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:56637082G>A	ENST00000267116.7	-	28	3196	c.3075C>T	c.(3073-3075)gaC>gaT	p.D1025D	ANKRD52_ENST00000548241.1_5'UTR	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	1025							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GACTGACGGCGTCCTTGGGTG	0.632000													19	39					0	0	0.000375601	0	0
SNAP47	116841	broad.mit.edu	37	1	227935648	227935648	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:227935648C>T	ENST00000366759.4	+	2	760	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	SNAP47_ENST00000315781.5_Silent_p.L116L|SNAP47_ENST00000366760.1_Intron	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	116						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CATCACCATCCTGGAGAAGGG	0.532000													44	90					0	0	0.000781405	0	0
MXRA5	25878	broad.mit.edu	37	X	3241569	3241569	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:3241569G>A	ENST00000217939.6	-	5	2311	c.2157C>T	c.(2155-2157)gaC>gaT	p.D719D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	719						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)				ACACCTCTTGGTCCTTTGGAT	0.478000													35	1					0	0	0.00111076	0	0
FBN3	84467	broad.mit.edu	37	19	8154839	8154839	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:8154839G>A	ENST00000600128.1	-	50	6603	c.6189C>T	c.(6187-6189)gcC>gcT	p.A2063A	FBN3_ENST00000270509.2_Silent_p.A2063A|FBN3_ENST00000601739.1_Silent_p.A2063A			Q75N90	FBN3_HUMAN	fibrillin 3	2063	TB 8.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCTCCTGAAAGGCAGCTGGAC	0.637000													6	22					0	0	0.00116845	0	0
ZNF317	57693	broad.mit.edu	37	19	9271094	9271094	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9271094C>T	ENST00000247956.6	+	7	1078	c.773C>T	c.(772-774)gCc>gTc	p.A258V	ZNF317_ENST00000360385.3_Missense_Mutation_p.A226V	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TGCGGGAAAGCCTTCAACGAC	0.572000													17	52					0	0	0.000422831	0	0
SLC6A5	9152	broad.mit.edu	37	11	20648277	20648277	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:20648277C>T	ENST00000525748.1	+	8	1557	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	428					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CGGCCACGTTCCCGTATGTCG	0.577000													34	21					0	0	0.000953801	0	0
C11orf85	283129	broad.mit.edu	37	11	64722257	64722257	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:64722257T>G	ENST00000530444.1	-	4	329	c.119A>C	c.(118-120)aAt>aCt	p.N40T	C11orf85_ENST00000301896.5_Missense_Mutation_p.N40T|C11orf85_ENST00000536065.1_5'UTR|C11orf85_ENST00000432175.1_Missense_Mutation_p.N40T			Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	40										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						GACTTCCTTATTTTCTATCTC	0.403000													16	35					0	0	0.00074312	0	0
PDE6C	5146	broad.mit.edu	37	10	95380655	95380655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:95380655C>T	ENST00000371447.3	+	3	779	c.641C>T	c.(640-642)tCc>tTc	p.S214F		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	214	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TAGGTCTTTTCCAAATACCTC	0.408000													238	36					0	0	0.000781405	0	0
IGHE	3497	broad.mit.edu	37	14	106067917	106067917	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:106067917C>T	ENST00000390540.2	-	0	468																											CATAGTTGTCCCGTTGAGGGA	0.612000													17	57					0	0	0.000422831	0	0
CALR3	125972	broad.mit.edu	37	19	16594862	16594862	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:16594862A>G	ENST00000269881.3	-	5	619	c.557T>C	c.(556-558)aTt>aCt	p.I186T	CALR3_ENST00000602234.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	186	N-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CTGACCATCAATTTTCACATC	0.413000													25	16					0	0	0.00106085	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256963	24256963	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:24256963C>T	ENST00000538205.1	+	11	1297	c.750C>T	c.(748-750)tcC>tcT	p.S250S	ADAMDEC1_ENST00000256412.4_Silent_p.S329S|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.S250S	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	329	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CCTTGTGTTCCCCATCTTCGG	0.418000													20	59					0	0	0.00229938	0	0
PCLO	27445	broad.mit.edu	37	7	82579186	82579186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:82579186G>A	ENST00000423517.2	-	6	11055	c.10718C>T	c.(10717-10719)tCa>tTa	p.S3573L	PCLO_ENST00000333891.8_Missense_Mutation_p.S3573L|PCLO_ENST00000437081.1_Missense_Mutation_p.S293L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3504					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGTGTGTCTGAATCTGCTTC	0.453000													57	69					0	0	0.000781405	0	0
C15orf39	56905	broad.mit.edu	37	15	75500392	75500392	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:75500392C>A	ENST00000360639.2	+	2	2323	c.2003C>A	c.(2002-2004)cCg>cAg	p.P668Q	C15orf39_ENST00000394987.4_Missense_Mutation_p.P668Q|C15orf39_ENST00000567617.1_Missense_Mutation_p.P668Q			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	668										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GCCGTGGTCCCGTCCACGCCC	0.607000													31	67					2.08457e-15	1.00301e-14	0.00209593	1	0
C7orf63	79846	broad.mit.edu	37	7	89891300	89891300	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:89891300C>T	ENST00000389297.4	+	4	537	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	C7orf63_ENST00000316089.8_Silent_p.L96L|C7orf63_ENST00000497910.1_Silent_p.L96L|C7orf63_ENST00000463311.1_3'UTR	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	96							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AATTCTGAATCTGTGTTCAGG	0.244000													22	87					0	0	0.000720815	0	0
OR2B3	442184	broad.mit.edu	37	6	29054742	29054742	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:29054742G>A	ENST00000377173.2	-	1	348	c.284C>T	c.(283-285)gCt>gTt	p.A95V		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CACACAGCCAGCATAGCTGAT	0.453000													47	61					0	0	0.000781405	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844923	18844923	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:18844923C>T	ENST00000412938.1	+	0	3173																											GCGTTCACGTCCATCTCGCTC	0.572000													22	38					0	0	0.00178596	0	0
GK2	2712	broad.mit.edu	37	4	80328367	80328367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:80328367G>A	ENST00000358842.3	-	1	1005	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	330					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTTAGCCAACGAATAACAGCA	0.428000													29	33					0	0	0.0024448	0	0
VHL	7428	broad.mit.edu	37	3	10191547	10191547	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:10191547C>T	ENST00000256474.2	+	3	1380	c.540C>T	c.(538-540)atC>atT	p.I180I	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Silent_p.I139I	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	180			I -> V (in VHLD; type I).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.I180fs*22(2)|p.L178_V181del(1)|p.D179_I180del(1)|p.I180fs*21(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GACTGGACATCGTCAGGTCGC	0.517000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				10	28					0	0	0.000442599	0	0
DOCK7	85440	broad.mit.edu	37	1	63018492	63018492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:63018492G>A	ENST00000251157.5	-	22	2710	c.2677C>T	c.(2677-2679)Cgt>Tgt	p.R893C	DOCK7_ENST00000340370.5_Missense_Mutation_p.R893C	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	893					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTTCGAGAACGATTTAAATTA	0.443000													18	60					0	0	0.000566183	0	0
CA1	759	broad.mit.edu	37	8	86241982	86241982	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:86241982G>C	ENST00000523953.1	-	8	1651	c.605C>G	c.(604-606)cCt>cGt	p.P202R	CA1_ENST00000542576.1_Missense_Mutation_p.P202R|CA1_ENST00000432364.2_Missense_Mutation_p.P202R|CA1_ENST00000523022.1_Missense_Mutation_p.P202R|CA1_ENST00000431316.1_Missense_Mutation_p.P202R|CA1_ENST00000522389.1_Missense_Mutation_p.P68R|CA1_ENST00000256119.5_Missense_Mutation_p.P202R			P00915	CAH1_HUMAN	carbonic anhydrase I	202					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	ATAAAGAGGAGGATGAGTCAG	0.483000													4	8					0	0	0.000602214	0	0
PALD1	27143	broad.mit.edu	37	10	72298087	72298087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:72298087G>A	ENST00000263563.6	+	12	1643	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		TGCCCACCCTGAGCTGTACCG	0.657000													21	5					0	0	0.000878237	0	0
NLRP7	199713	broad.mit.edu	37	19	55451819	55451819	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:55451819C>T	ENST00000446217.1	-	6	854	c.452G>A	c.(451-453)tGg>tAg	p.W151*	NLRP7_ENST00000328092.5_Nonsense_Mutation_p.W123*|NLRP7_ENST00000448121.2_Nonsense_Mutation_p.W123*|NLRP7_ENST00000592784.1_Nonsense_Mutation_p.W123*|NLRP7_ENST00000590030.1_Nonsense_Mutation_p.W123*|NLRP7_ENST00000588756.1_Nonsense_Mutation_p.W123*|NLRP7_ENST00000340844.2_Nonsense_Mutation_p.W123*			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	123							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGAATTTCTCCATCCTTCCTT	0.438000													393	151					0	0	0.000781405	0	0
AQR	9716	broad.mit.edu	37	15	35202380	35202380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:35202380G>A	ENST00000156471.5	-	17	1844	c.1619C>T	c.(1618-1620)aCc>aTc	p.T540I		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	540						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GAGATTTATGGTAACATCTGC	0.438000													62	84					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9048013	9048013	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9048013C>T	ENST00000397910.4	-	5	33821	c.33618G>A	c.(33616-33618)ggG>ggA	p.G11206G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11208	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						AAGTCACCAGCCCTTGTACAG	0.478000													20	14					0	0	0.00152264	0	0
ZNF324	25799	broad.mit.edu	37	19	58983383	58983383	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:58983383C>T	ENST00000536459.2	+	4	2233	c.1524C>T	c.(1522-1524)acC>acT	p.T508T	ZNF324_ENST00000535298.1_Silent_p.T285T|ZNF324_ENST00000196482.3_Silent_p.T508T			O75467	Z324A_HUMAN	zinc finger protein 324	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCGAGAAGACCGTCCGGCGAT	0.677000													11	56					0	0	0.000978159	0	0
GPR133	283383	broad.mit.edu	37	12	131487747	131487747	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:131487747G>A	ENST00000261654.5	+	10	1603	c.1044G>A	c.(1042-1044)ctG>ctA	p.L348L	GPR133_ENST00000535015.1_Silent_p.L380L|GPR133_ENST00000376682.4_Silent_p.L34L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	348					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCGTGGTACTGAGTCTCATCG	0.602000													52	117					0	0	0.000781405	0	0
ZP1	22917	broad.mit.edu	37	11	60635174	60635174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:60635174G>A	ENST00000278853.5	+	1	140	c.140G>A	c.(139-141)gGa>gAa	p.G47E		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	47					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGGATCAAGGGAATGCAGCTG	0.682000													20	9					0	0	0.00188189	0	0
CCDC88C	440193	broad.mit.edu	37	14	91755607	91755607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:91755607G>A	ENST00000389857.6	-	25	4369	c.4283C>T	c.(4282-4284)tCc>tTc	p.S1428F		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1428					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain 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)				GTCCACGGTGGATTTTAAGCG	0.572000													48	188					0	0	0.000781405	0	0
NLRP7	199713	broad.mit.edu	37	19	55451005	55451005	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:55451005G>A	ENST00000446217.1	-	6	1668	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	NLRP7_ENST00000328092.5_Silent_p.F394F|NLRP7_ENST00000448121.2_Silent_p.F394F|NLRP7_ENST00000592784.1_Silent_p.F394F|NLRP7_ENST00000590030.1_Silent_p.F394F|NLRP7_ENST00000588756.1_Silent_p.F394F|NLRP7_ENST00000340844.2_Silent_p.F394F			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	394	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGAAACGCAGGAACAGCCCCG	0.711000													8	20					0	0	0.000274275	0	0
RBM47	54502	broad.mit.edu	37	4	40440409	40440409	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:40440409G>A	ENST00000319592.4	-	4	1211	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L	RBM47_ENST00000514014.1_Silent_p.L130L|RBM47_ENST00000381795.6_Silent_p.L168L|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Silent_p.L168L|RBM47_ENST00000381793.2_Silent_p.L168L			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	168	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ATCTCCTCCAGGATTTCCTCG	0.642000													32	50					0	0	0.000692331	0	0
NUP133	55746	broad.mit.edu	37	1	229606486	229606486	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:229606486C>G	ENST00000261396.3	-	15	2008	c.1917G>C	c.(1915-1917)ttG>ttC	p.L639F	NUP133_ENST00000366679.1_Missense_Mutation_p.L639F|NUP133_ENST00000537506.1_Missense_Mutation_p.L623F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	639					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GCTCACAGAGCAACAGTCGAG	0.483000													14	52					0	0	0.000566183	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900726	4900726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:4900726G>A	ENST00000404991.1	-	1	899	c.713C>T	c.(712-714)tCc>tTc	p.S238F	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	238					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TAATATATTGGAATAGATATT	0.443000													65	65					0	0	0.000781405	0	0
WDR17	116966	broad.mit.edu	37	4	177098301	177098301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:177098301C>T	ENST00000393643.2	+	28	3839	c.3587C>T	c.(3586-3588)aCc>aTc	p.T1196I	WDR17_ENST00000280190.4_Missense_Mutation_p.T1220I|WDR17_ENST00000508596.1_Missense_Mutation_p.T1181I|WDR17_ENST00000507824.2_Missense_Mutation_p.T1195I	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1220										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ACACAGTCCACCAACAGGTGA	0.373000													10	4					0	0	0.00185496	0	0
PRDM9	56979	broad.mit.edu	37	5	23526472	23526472	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:23526472C>T	ENST00000296682.3	+	11	1457	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	425					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAAAACTCCTCCAACCAGAGA	0.463000										HNSCC(3;0.000094)			77	7					0	0	0.000781405	0	0
SLC39A5	283375	broad.mit.edu	37	12	56631454	56631454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:56631454G>A	ENST00000266980.4	+	11	1855	c.1562G>A	c.(1561-1563)gGc>gAc	p.G521D	SLC39A5_ENST00000419232.1_3'UTR|SLC39A5_ENST00000454355.2_Missense_Mutation_p.G521D	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	521					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGGGGGGCGGCCTCATGCTT	0.652000													6	28					0	0	0.00116845	0	0
KIAA1456	57604	broad.mit.edu	37	8	12878918	12878918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:12878918G>A	ENST00000524591.2	+	5	1219	c.730G>A	c.(730-732)Gga>Aga	p.G244R	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	244							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						CAGCACATTAGGAAAATCGTT	0.418000													17	59					0	0	0.00074312	0	0
LRP1	4035	broad.mit.edu	37	12	57598218	57598218	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:57598218C>T	ENST00000243077.3	+	71	11443	c.10977C>T	c.(10975-10977)ttC>ttT	p.F3659F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3659	LDL-receptor class A 29.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGACGAGTTCCAGTGCAACA	0.612000													22	44					0	0	0.00152264	0	0
NCKAP5	344148	broad.mit.edu	37	2	133751795	133751795	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:133751795C>T	ENST00000409261.1	-	7	732	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	NCKAP5_ENST00000317721.6_Missense_Mutation_p.R120Q|NCKAP5_ENST00000409213.1_Missense_Mutation_p.R120Q|NCKAP5_ENST00000405974.3_Missense_Mutation_p.R120Q	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	120							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CAATAGATTTCGTACTGTTTC	0.348000													5	15					0	0	0.000602214	0	0
ATP13A5	344905	broad.mit.edu	37	3	193019069	193019069	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:193019069G>A	ENST00000342358.4	-	24	2823	c.2706C>T	c.(2704-2706)tcC>tcT	p.S902S	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	902					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATACTCCAAAGGATGAAACCA	0.323000													94	153					0	0	0.000781405	0	0
SEC14L3	266629	broad.mit.edu	37	22	30867904	30867904	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:30867904C>T	ENST00000215812.4	-	1	132	c.42G>A	c.(40-42)gaG>gaA	p.E14E	SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	14						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TGGCCAGGGTCTCTGCCTGTT	0.627000													62	79					0	0	0.000781405	0	0
MUC17	140453	broad.mit.edu	37	7	100679937	100679937	+	Missense_Mutation	SNP	G	G	A	rs71286279		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:100679937G>A	ENST00000306151.4	+	3	5304	c.5240G>A	c.(5239-5241)gGa>gAa	p.G1747E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1747	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTAGTGAAGGAACCACTCCA	0.512000													149	244					0	0	0.000781405	0	0
CERS5	91012	broad.mit.edu	37	12	50536905	50536905	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:50536905C>A	ENST00000317551.6	-	3	510	c.386G>T	c.(385-387)cGg>cTg	p.R129L	CERS5_ENST00000422340.2_Missense_Mutation_p.R71L	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	129					ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CTGATTCCTCCGATGGCGAAA	0.478000													9	311					1.12685e-05	5.37234e-05	0.000274275	1	0
TENM3	55714	broad.mit.edu	37	4	183650332	183650332	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:183650332G>A	ENST00000511685.1	+	14	2706	c.2583G>A	c.(2581-2583)aaG>aaA	p.K861K	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.K861K					teneurin transmembrane protein 3																		CTTTCAATAAGAGGTTAATGC	0.378000													18	3					0	0	0.00074312	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28297142	28297142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:28297142C>T	ENST00000414429.1	-	6	1222	c.319G>A	c.(319-321)Ggg>Agg	p.G107R	ZSCAN31_ENST00000344279.6_Missense_Mutation_p.G107R|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.G107R|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.G107R					zinc finger and SCAN domain containing 31																		GCCTCCTCCCCACTCTCCGGA	0.537000													105	120					0	0	0.000781405	0	0
NLRC5	84166	broad.mit.edu	37	16	57088686	57088686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:57088686C>T	ENST00000436936.1	+	25	3755	c.3530C>T	c.(3529-3531)cCg>cTg	p.P1177L	NLRC5_ENST00000308149.7_Missense_Mutation_p.P1177L|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000539144.1_Missense_Mutation_p.P1177L|NLRC5_ENST00000262510.6_Missense_Mutation_p.P1177L			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1177					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	p.P1177Q(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GGACTGTCCCCGAAAAGCCCC	0.582000													108	82					0	0	0.000781405	0	0
IL11	3589	broad.mit.edu	37	19	55879926	55879926	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:55879926G>A	ENST00000264563.2	-	3	254	c.192C>T	c.(190-192)ttC>ttT	p.F64F	IL11_ENST00000585513.1_Silent_p.F64F|IL11_ENST00000590625.1_5'UTR	NM_000641.3	NP_000632.1	P20809	IL11_HUMAN	interleukin 11	64					B cell differentiation|fat cell differentiation|megakaryocyte differentiation|negative regulation of hormone secretion|platelet activation|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity|growth factor activity|interleukin-11 receptor binding			large_intestine(1)|skin(1)	2	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	Oprelvekin(DB00038)	CGTCAGCTGGGAATTTGTCCC	0.667000													14	33					0	0	0.000422831	0	0
SGCA	6442	broad.mit.edu	37	17	48245361	48245361	+	Silent	SNP	G	G	A	rs147739328	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:48245361G>A	ENST00000262018.3	+	4	402	c.366G>A	c.(364-366)ctG>ctA	p.L122L	SGCA_ENST00000513942.1_3'UTR|SGCA_ENST00000344627.6_Silent_p.L122L|SGCA_ENST00000451235.2_Silent_p.L20L|SGCA_ENST00000543315.1_Silent_p.L122L	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	122					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GGCTGGTGCTGGAGATTGGGG	0.592000													46	29					0	0	0.000781405	0	0
PLBD2	196463	broad.mit.edu	37	12	113824829	113824829	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:113824829G>A	ENST00000280800.3	+	10	1405	c.1374G>A	c.(1372-1374)cgG>cgA	p.R458R	PLBD2_ENST00000545182.2_Silent_p.R426R	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	458					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GGAGCCCCCGGGCCCAGATCT	0.607000													40	41					0	0	0.000509022	0	0
SVEP1	79987	broad.mit.edu	37	9	113169739	113169739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:113169739G>A	ENST00000401783.2	-	38	8477	c.8141C>T	c.(8140-8142)tCa>tTa	p.S2714L	SVEP1_ENST00000374469.1_Missense_Mutation_p.S2691L|SVEP1_ENST00000297826.5_Missense_Mutation_p.S640L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2714	Sushi 21.				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						ACATTCAATTGAAATGCAGGA	0.463000													80	12					0	0	0.000781405	0	0
OR7D2	162998	broad.mit.edu	37	19	9296615	9296615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9296615C>T	ENST00000344248.2	+	1	337	c.158C>T	c.(157-159)tCc>tTc	p.S53F		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	53					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						AGCTCTGACTCCCACCTCCAC	0.537000													28	13					0	0	0.00106085	0	0
AHRR	57491	broad.mit.edu	37	5	434374	434374	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:434374A>T	ENST00000316418.5	+	12	1629	c.1585A>T	c.(1585-1587)Atg>Ttg	p.M529L	AHRR_ENST00000512529.1_Missense_Mutation_p.M357L|AHRR_ENST00000506456.1_Missense_Mutation_p.M367L|AHRR_ENST00000505113.1_Missense_Mutation_p.M511L	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGGCTATCCCATGGAGGACAT	0.617000													25	18					0	0	0.000586117	0	0
GATM	2628	broad.mit.edu	37	15	45657033	45657033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:45657033C>T	ENST00000396659.3	-	7	1343	c.1004G>A	c.(1003-1005)tGg>tAg	p.W335*	GATM_ENST00000558336.1_Nonsense_Mutation_p.W335*	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	335					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	AATGATAGTCCATCCTGCTTT	0.338000													17	24					0	0	0.00121646	0	0
SLC7A2	6542	broad.mit.edu	37	8	17417987	17417987	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:17417987C>T	ENST00000470360.1	+	11	1683	c.1566C>T	c.(1564-1566)tcC>tcT	p.S522S	SLC7A2_ENST00000494857.1_Silent_p.S483S|SLC7A2_ENST00000398090.3_Silent_p.S522S|SLC7A2_ENST00000004531.10_Silent_p.S523S|SLC7A2_ENST00000522656.1_Silent_p.S483S			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	483					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TCTGCCCCTCCCTTCTGCCAA	0.537000													18	67					0	0	0.00188189	0	0
TMEM244	253582	broad.mit.edu	37	6	130164701	130164701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:130164701G>A	ENST00000438392.1	-	4	347	c.167C>T	c.(166-168)cCc>cTc	p.P56L	TMEM244_ENST00000368143.1_Missense_Mutation_p.P56L			Q5VVB8	CF191_HUMAN	transmembrane protein 244	56						integral to membrane											GAGCCATGAGGGATTTGTTTT	0.303000													62	9					0	0	0.000781405	0	0
ATP8A1	10396	broad.mit.edu	37	4	42467036	42467036	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:42467036G>A	ENST00000381668.5	-	26	2613	c.2382C>T	c.(2380-2382)gtC>gtT	p.V794V	ATP8A1_ENST00000264449.10_Silent_p.V779V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	794					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CAAGCGTTACGACTTTGACTT	0.413000													17	31					0	0	0.00121646	0	0
RAB27B	5874	broad.mit.edu	37	18	52556589	52556589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:52556589G>A	ENST00000262094.5	+	6	1123	c.602G>A	c.(601-603)gGa>gAa	p.G201E	RP11-839G9.1_ENST00000588466.1_RNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	201					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		GTCAATGGTGGAAATTCTGGA	0.413000													23	28					0	0	0.00229938	0	0
CTC1	80169	broad.mit.edu	37	17	8137885	8137885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:8137885G>A	ENST00000315684.8	-	10	1713	c.1706C>T	c.(1705-1707)cCt>cTt	p.P569L		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	569					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AAGGGCCTTAGGGTCAAAGGA	0.632000													13	2					0	0	0.000308642	0	0
WISP1	8840	broad.mit.edu	37	8	134233063	134233063	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:134233063C>T	ENST00000250160.6	+	3	695	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	197					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CAAGACCGCACCCCGTGACAC	0.657000													12	33					0	0	0.000978159	0	0
TMEM144	55314	broad.mit.edu	37	4	159162695	159162695	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:159162695C>T	ENST00000296529.6	+	11	1357	c.837C>T	c.(835-837)acC>acT	p.T279T	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	279						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CTATAGCTACCTGCTGTTGGT	0.418000													33	66					0	0	0.000953801	0	0
PPP4R4	57718	broad.mit.edu	37	14	94722887	94722887	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:94722887G>A	ENST00000304338.3	+	17	2110	c.1956G>A	c.(1954-1956)gtG>gtA	p.V652V		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	652						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AAATGTGTGTGAGGAAACTCC	0.363000													20	19					0	0	0.00152264	0	0
WNT3	7473	broad.mit.edu	37	17	44845944	44845944	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:44845944C>T	ENST00000225512.5	-	4	972	c.810G>A	c.(808-810)acG>acA	p.T270T		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	270					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GGTCCCTCTCCGTGGGTGGCT	0.587000													18	62					0	0	0.000958276	0	0
LONRF2	164832	broad.mit.edu	37	2	100906787	100906787	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:100906787C>A	ENST00000393437.3	-	10	2492	c.1853G>T	c.(1852-1854)cGa>cTa	p.R618L	LONRF2_ENST00000409647.1_Missense_Mutation_p.R375L	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	618	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GCTTAGCACTCGGAACCGACT	0.448000													47	71					2.14674e-31	1.0399e-30	0.000781405	1	0
LPP	4026	broad.mit.edu	37	3	188584050	188584050	+	Silent	SNP	C	C	T	rs138205223	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:188584050C>T	ENST00000312675.4	+	9	1719	c.1473C>T	c.(1471-1473)acC>acT	p.T491T	LPP_ENST00000543006.1_Silent_p.T491T	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	491	LIM zinc-binding 2.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TCCGAGCCACCGGGAAGGCCT	0.562000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								43	61					0	0	0.000680045	0	0
RXFP3	51289	broad.mit.edu	37	5	33938078	33938078	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:33938078G>A	ENST00000330120.3	+	1	1588	c.1233G>A	c.(1231-1233)tcG>tcA	p.S411S		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	411						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CGTCTCCTTCGATCACCAGCA	0.706000													25	27					0	0	0.00106085	0	0
LOC146880	146880	broad.mit.edu	37	17	62750165	62750165	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:62750165C>T	ENST00000400873.3	-	0	2192					NR_026899.1																						CCAGAATAATCTTGGTATCTT	0.388000													245	35					0	0	0.000781405	0	0
L1TD1	54596	broad.mit.edu	37	1	62677026	62677026	+	Silent	SNP	G	G	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:62677026G>C	ENST00000498273.1	+	4	2875	c.2580G>C	c.(2578-2580)ctG>ctC	p.L860L		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	860			L -> V (in dbSNP:rs11207934).							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						gagaattactggggaatAATA	0.368000													22	52					0	0	0.000375601	0	0
CNTRL	11064	broad.mit.edu	37	9	123914842	123914842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:123914842C>T	ENST00000373855.1	+	26	4303	c.4043C>T	c.(4042-4044)tCc>tTc	p.S1348F	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.S1348F|CNTRL_ENST00000373850.1_Missense_Mutation_p.S796F|CNTRL_ENST00000373847.1_Missense_Mutation_p.S796F			Q7Z7A1	CNTRL_HUMAN	centriolin	1348					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATGAGAGCATCCAAGCGGCAG	0.373000													51	9					0	0	0.000781405	0	0
ARAP1	116985	broad.mit.edu	37	11	72410593	72410593	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:72410593G>A	ENST00000359373.5	-	17	3158	c.2307C>T	c.(2305-2307)ttC>ttT	p.F769F	ARAP1_ENST00000426523.1_Silent_p.F524F|ARAP1_ENST00000393609.3_Silent_p.F769F|ARAP1_ENST00000334211.8_Silent_p.F524F|ARAP1_ENST00000429686.1_Silent_p.F463F|ARAP1_ENST00000393605.3_Silent_p.F529F|ARAP1_ENST00000455638.2_Silent_p.F769F|ARAP1_ENST00000495878.1_5'UTR			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	769	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AGCGCCGGCTGAACTCTGGGG	0.617000													51	111					0	0	0.000781405	0	0
GGT1	2678	broad.mit.edu	37	22	25019187	25019187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:25019187G>A	ENST00000400382.1	+	10	1602	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	GGT1_ENST00000400380.1_Missense_Mutation_p.G283R|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000248923.4_Missense_Mutation_p.G283R|GGT1_ENST00000406383.2_Missense_Mutation_p.G283R|GGT1_ENST00000400383.1_Missense_Mutation_p.G283R			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	283					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GCCGCTCAGCGGGCCCGTGCT	0.627000													10	4					0	0	0.00136819	0	0
OR51B4	79339	broad.mit.edu	37	11	5322332	5322332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:5322332G>A	ENST00000380224.1	-	1	894	c.845C>T	c.(844-846)cCa>cTa	p.P282L	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTCACGAATGGAGGAAAGAG	0.433000													19	23					0	0	0.000958276	0	0
LMAN1L	79748	broad.mit.edu	37	15	75114199	75114199	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:75114199C>T	ENST00000309664.5	+	10	1228	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S	LMAN1L_ENST00000379709.3_Silent_p.S351S|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	363						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGATTCCATCCACCCCAGGGA	0.612000													45	39					0	0	0.000781405	0	0
COL20A1	57642	broad.mit.edu	37	20	61939414	61939414	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:61939414C>T	ENST00000422202.1	+	6	836	c.768C>T	c.(766-768)ctC>ctT	p.L256L	COL20A1_ENST00000326996.6_Silent_p.L249L|COL20A1_ENST00000435874.1_Silent_p.L256L|COL20A1_ENST00000358894.6_Silent_p.L249L			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	249	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGCGCCGCCTCCGCTACAAGG	0.657000													23	69					0	0	0.000586117	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39911444	39911444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:39911444C>T	ENST00000425673.1	+	13	1676	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S	PLEKHG2_ENST00000409797.2_Missense_Mutation_p.P451S|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P392S|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.P451S|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P451S			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	451					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACTTGGGTCTCCTCGACCTCG	0.562000													20	33					0	0	0.00047179	0	0
ASTN1	460	broad.mit.edu	37	1	176926840	176926840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:176926840G>A	ENST00000367654.2	-	11	1898	c.1885C>T	c.(1885-1887)Cgc>Tgc	p.R629C	ASTN1_ENST00000361833.2_Missense_Mutation_p.R621C|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.R621C|ASTN1_ENST00000424564.2_Missense_Mutation_p.R621C			O14525	ASTN1_HUMAN	astrotactin 1	629	EGF-like 2.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCAGCTTGCGATCTGAAATA	0.537000													31	16					0	0	0.00058488	0	0
DPY19L4	286148	broad.mit.edu	37	8	95778881	95778881	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:95778881C>T	ENST00000414645.2	+	11	1242	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	381						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TGCTGAAATTCCTTGAAGTAA	0.303000													186	214					0	0	0.000781405	0	0
IZUMO4	113177	broad.mit.edu	37	19	2099315	2099315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:2099315G>A	ENST00000395307.2	+	9	1181	c.616G>A	c.(616-618)Gat>Aat	p.D206N	IZUMO4_ENST00000395301.3_Missense_Mutation_p.D224N	NM_001031735.2	NP_001026905.2	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	224						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						GACCTTGGAAGATGCTGCTGA	0.642000													5	25					0	0	0.00116845	0	0
CPXM2	119587	broad.mit.edu	37	10	125521433	125521433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:125521433C>T	ENST00000241305.3	-	11	1886	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	578					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)		GTGCCCTCCTCCTTCTGGAAG	0.667000													17	0					0	0	0.000958276	0	0
CACNA1H	8912	broad.mit.edu	37	16	1262084	1262084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:1262084G>A	ENST00000348261.5	+	25	4953	c.4705G>A	c.(4705-4707)Gag>Aag	p.E1569K	CACNA1H_ENST00000565831.1_Missense_Mutation_p.E1569K|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E1569K	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1569					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)	GGAGGCGGAGGAGGCGCGGCG	0.667000													27	52					0	0	0.000586117	0	0
RPA1	6117	broad.mit.edu	37	17	1747224	1747224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:1747224C>T	ENST00000254719.5	+	3	205	c.95C>T	c.(94-96)cCc>cTc	p.P32L		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	32					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						AACATCCGTCCCATTACTACG	0.493000								Nucleotide excision repair (NER)					128	7					0	0	0.000781405	0	0
WWC1	23286	broad.mit.edu	37	5	167850869	167850869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:167850869C>T	ENST00000265293.4	+	11	2108	c.1606C>T	c.(1606-1608)Cca>Tca	p.P536S	WWC1_ENST00000521089.1_Missense_Mutation_p.P536S	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	536					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTCCCTATCCCCACGTTCCTC	0.622000													27	25					0	0	0.000720815	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16812687	16812687	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:16812687G>A	ENST00000355661.3	-	20	2815	c.2805C>T	c.(2803-2805)ccC>ccT	p.P935P	PLEKHA7_ENST00000531066.1_Silent_p.P935P|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000448080.2_Silent_p.P936P|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	935	Pro-rich.				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						GCACAGCCGGGGGCTGGTCCT	0.642000													14	32					0	0	0.00074312	0	0
CDO1	1036	broad.mit.edu	37	5	115146962	115146962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:115146962C>T	ENST00000250535.4	-	3	855	c.299G>A	c.(298-300)gGa>gAa	p.G100E	CDO1_ENST00000502631.1_5'UTR	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	100					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	CTTTAGATTTCCCTGTAGCAT	0.408000													82	62					0	0	0.000781405	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865634	6865634	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:6865634C>T	ENST00000307659.5	+	7	3980	c.3525C>T	c.(3523-3525)ttC>ttT	p.F1175F	KIAA0232_ENST00000425103.1_Silent_p.F1175F	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1175							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CTGGAAAATTCCTTCCCAGGT	0.413000													22	26					0	0	0.00047179	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011427	160011427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:160011427G>A	ENST00000368089.3	-	2	1122	c.896C>T	c.(895-897)tCc>tTc	p.S299F	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	299						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGCAGGTAGGAAGTGCGCAC	0.527000													14	28					0	0	0.00185496	0	0
FSTL4	23105	broad.mit.edu	37	5	132585175	132585175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:132585175C>T	ENST00000265342.7	-	7	1070	c.821G>A	c.(820-822)gGa>gAa	p.G274E	FSTL4_ENST00000507112.1_5'UTR	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	274	Ig-like 1.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTCAGGTCTCCATGGACGGC	0.582000													18	22					0	0	0.00121646	0	0
FGR	2268	broad.mit.edu	37	1	27949630	27949630	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:27949630G>A	ENST00000374005.3	-	4	540	c.252C>T	c.(250-252)gcC>gcT	p.A84A	FGR_ENST00000374004.1_Silent_p.A84A|FGR_ENST00000399173.1_Silent_p.A84A|FGR_ENST00000545953.1_Silent_p.A84A	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	84	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGTCATACAGGGCAATGAACA	0.557000													9	51					0	0	0.000673444	0	0
HEATR5A	25938	broad.mit.edu	37	14	31774117	31774117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:31774117G>A	ENST00000543095.2	-	32	5417	c.5233C>T	c.(5233-5235)Cct>Tct	p.P1745S	HEATR5A_ENST00000389961.3_Missense_Mutation_p.P1739S|HEATR5A_ENST00000439727.1_Missense_Mutation_p.P1452S|HEATR5A_ENST00000439348.1_Missense_Mutation_p.P1739S	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1739							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ATACCTTCAGGAGAGCACACT	0.383000													10	28					0	0	0.000673444	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650528	94650528	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:94650528C>T	ENST00000260526.6	-	18	2191	c.2009G>A	c.(2008-2010)gGa>gAa	p.G670E	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	670					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GAATTCTGCTCCAAATAAGTG	0.348000													62	29					0	0	0.000781405	0	0
SIX1	6495	broad.mit.edu	37	14	61113243	61113243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:61113243G>A	ENST00000247182.6	-	2	885	c.613C>T	c.(613-615)Cct>Tct	p.P205S	SIX1_ENST00000554986.1_Missense_Mutation_p.P32S	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	205					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CCTTCCAGAGGAGAGAGTTGG	0.458000													43	27					0	0	0.000781405	0	0
STAB1	23166	broad.mit.edu	37	3	52538520	52538520	+	Silent	SNP	C	C	T	rs113269624		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:52538520C>T	ENST00000321725.6	+	11	1270	c.1194C>T	c.(1192-1194)acC>acT	p.T398T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	398	FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCTTTCACCGTGCTGGTGC	0.637000													27	4					0	0	0.00178596	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217347558	217347558	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:217347558C>A	ENST00000357276.4	+	18	3053	c.2723C>A	c.(2722-2724)cCa>cAa	p.P908Q	AC098820.3_ENST00000453157.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.P908Q	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	908					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TCCTTTGACCCAGGAAGTGCT	0.478000									Schimke Immuno-Osseous Dysplasia				6	102					5.18039e-06	2.47184e-05	0.000157383	1	0
HHLA2	11148	broad.mit.edu	37	3	108072538	108072538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:108072538G>A	ENST00000357759.5	+	4	743	c.329G>A	c.(328-330)aGa>aAa	p.R110K	HHLA2_ENST00000467761.1_Missense_Mutation_p.R110K|HHLA2_ENST00000489514.2_Missense_Mutation_p.R110K|HHLA2_ENST00000491820.1_Missense_Mutation_p.R110K|HHLA2_ENST00000467562.1_Missense_Mutation_p.R46K	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	110	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TTTTTCAGAAGAGTAAGCCTT	0.423000													39	35					0	0	0.00222228	0	0
COL4A2	1284	broad.mit.edu	37	13	111114659	111114659	+	Silent	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:111114659C>A	ENST00000360467.5	+	24	2010	c.1704C>A	c.(1702-1704)ccC>ccA	p.P568P	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	568	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGGTGTGCCCGGGATGAAAG	0.667000													5	75					0.000602214	0.00285684	0.000602214	1	0
XRCC6BP1	91419	broad.mit.edu	37	12	58350598	58350598	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:58350598C>T	ENST00000300145.3	+	6	791	c.666C>T	c.(664-666)atC>atT	p.I222I	XRCC6BP1_ENST00000546709.1_3'UTR	NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	222					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						TTGGAAGGATCCCACATAACA	0.353000													39	66					0	0	0.00111076	0	0
ZNF676	163223	broad.mit.edu	37	19	22375878	22375878	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:22375878G>A	ENST00000397121.2	-	2	387	c.70C>T	c.(70-72)Ctg>Ttg	p.L24L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCTTGCTCCAGAAAAATGATC	0.403000													38	23					0	0	0.00170553	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48204647	48204647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:48204647C>T	ENST00000396720.3	+	15	3852	c.3658C>T	c.(3658-3660)Cgg>Tgg	p.R1220W	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1220							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CGAGGGTCATCGGCTTCCCGG	0.682000													3	5					0	0	6.4e-05	0	0
GPR18	2841	broad.mit.edu	37	13	99907671	99907671	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:99907671C>T	ENST00000340807.3	-	3	1012	c.456G>A	c.(454-456)acG>acA	p.T152T	UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397473.2_Silent_p.T152T|GPR18_ENST00000397470.2_Silent_p.T152T|UBAC2_ENST00000403766.3_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	152						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	GAGGGGTGGTCGTGGTCAGGG	0.498000													28	62					0	0	0.00127121	0	0
LRP6	4040	broad.mit.edu	37	12	12279653	12279653	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:12279653G>A	ENST00000261349.4	-	20	4360	c.4284C>T	c.(4282-4284)caC>caT	p.H1428H	LRP6_ENST00000543091.1_Silent_p.H1383H|LRP6_ENST00000540415.1_Intron|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1428					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AAGAACTTGGGTGTGGCACAT	0.463000													176	113					0	0	0.000781405	0	0
CCNA1	8900	broad.mit.edu	37	13	37016374	37016374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:37016374C>T	ENST00000418263.1	+	8	1626	c.1276C>T	c.(1276-1278)Cat>Tat	p.H426Y	CCNA1_ENST00000449823.1_Missense_Mutation_p.H383Y|CCNA1_ENST00000255465.4_Missense_Mutation_p.H427Y|CCNA1_ENST00000440264.1_Missense_Mutation_p.H383Y	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	427					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GAGTGAGCTTCATAAAGCGTA	0.398000													48	22					0	0	0.000781405	0	0
NFATC1	4772	broad.mit.edu	37	18	77170711	77170711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:77170711C>T	ENST00000253506.5	+	2	805	c.436C>T	c.(436-438)Cct>Tct	p.P146S	NFATC1_ENST00000586434.1_Missense_Mutation_p.P133S|NFATC1_ENST00000591814.1_Missense_Mutation_p.P146S|NFATC1_ENST00000542384.1_Missense_Mutation_p.P146S|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.P146S|NFATC1_ENST00000318065.5_Missense_Mutation_p.P133S|NFATC1_ENST00000329101.4_Missense_Mutation_p.P133S|NFATC1_ENST00000427363.2_Missense_Mutation_p.P146S|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000592223.1_Missense_Mutation_p.P133S	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	146	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		AGACGTCCTCCCTAGCTCCAA	0.622000													23	18					0	0	0.000586117	0	0
DNMBP	23268	broad.mit.edu	37	10	101715157	101715157	+	Missense_Mutation	SNP	G	G	A	rs148247428		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:101715157G>A	ENST00000342239.3	-	4	2165	c.2074C>T	c.(2074-2076)Ccc>Tcc	p.P692S	DNMBP_ENST00000324109.4_Missense_Mutation_p.P692S|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	692					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGCACTAAGGGGCATGGGGAG	0.532000													24	0					0	0	0.000586117	0	0
OR5D16	390144	broad.mit.edu	37	11	55606570	55606570	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:55606570A>T	ENST00000378396.1	+	1	343	c.343A>T	c.(343-345)Att>Ttt	p.I115F		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I115F(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GACTGAATTAATTCTATTTGC	0.438000													63	90					0	0	0.000781405	0	0
ABCC6	368	broad.mit.edu	37	16	16315466	16315466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:16315466G>A	ENST00000575728.1	-	2	291	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	ABCC6_ENST00000205557.7_Intron|ABCC6_ENST00000574094.1_Intron	NM_001079528.3	NP_001072996.1	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	0					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TGCCTCCCCCGAACATTGCCT	0.542000													8	6					0	0	0.000157383	0	0
TEKT1	83659	broad.mit.edu	37	17	6704242	6704242	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:6704242G>A	ENST00000338694.2	-	7	1002	c.873C>T	c.(871-873)tcC>tcT	p.S291S	TEKT1_ENST00000535086.1_Silent_p.S145S	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	291					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TTTTCTCCTGGGAAGCAATCT	0.502000													280	5					0	0	0.000781405	0	0
FGD2	221472	broad.mit.edu	37	6	36988344	36988344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:36988344C>T	ENST00000274963.8	+	10	1321	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	384	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TGCTGAGTTTCCCCACTCCTT	0.647000													12	10					0	0	0.00136819	0	0
ZBTB40	9923	broad.mit.edu	37	1	22828003	22828003	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:22828003G>C	ENST00000404138.1	+	5	1361	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	ZBTB40_ENST00000375647.4_Missense_Mutation_p.E284Q|ZBTB40_ENST00000374651.4_Intron	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	284					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GAAATGTTTCGAGGGTGAAGG	0.453000													10	36					0	0	0.000978159	0	0
TYK2	7297	broad.mit.edu	37	19	10475409	10475409	+	Silent	SNP	G	G	A	rs138350396	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:10475409G>A	ENST00000525621.1	-	9	1729	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	TYK2_ENST00000529370.1_Silent_p.F416F|TYK2_ENST00000524462.1_Silent_p.F231F|TYK2_ENST00000264818.6_Silent_p.F416F	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	416	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.F416F(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCAGCGACACGAAGGACAGCG	0.682000													20	18					0	0	0.00121646	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958196	143958196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:143958196G>A	ENST00000292427.4	-	4	733	c.701C>T	c.(700-702)aCc>aTc	p.T234I	CYP11B1_ENST00000517471.1_Missense_Mutation_p.T234I|CYP11B1_ENST00000377675.3_Missense_Mutation_p.T305I	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	234					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GAGCTGGACGGTGGATTTGAA	0.587000									Familial Hyperaldosteronism type I				21	36					0	0	0.00047179	0	0
DNAH2	146754	broad.mit.edu	37	17	7662770	7662770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:7662770C>T	ENST00000572933.1	+	16	3939	c.2479C>T	c.(2479-2481)Cgg>Tgg	p.R827W	DNAH2_ENST00000389173.2_Missense_Mutation_p.R827W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	827	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R827W(1)		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)				GTACATGATTCGGCTGGACCG	0.522000													77	10					0	0	0.000781405	0	0
STOX1	219736	broad.mit.edu	37	10	70645751	70645751	+	Silent	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:70645751T>C	ENST00000298596.6	+	3	2282	c.2199T>C	c.(2197-2199)agT>agC	p.S733S	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Silent_p.S623S|STOX1_ENST00000399169.4_Silent_p.S733S	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	733						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GTGCCTGTAGTTCATTATATC	0.453000													43	39					0	0	0.000589545	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950772	235950772	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:235950772C>T	ENST00000409212.1	+	4	1866	c.1359C>T	c.(1357-1359)gtC>gtT	p.V453V	SH3BP4_ENST00000392011.2_Silent_p.V453V|SH3BP4_ENST00000344528.4_Silent_p.V453V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	453					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		ACGTGGCTGTCGTGGCCCATG	0.572000													5	20					0	0	0.00116845	0	0
TSPAN17	26262	broad.mit.edu	37	5	176083873	176083873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:176083873C>T	ENST00000298564.10	+	4	628	c.479C>T	c.(478-480)cCt>cTt	p.P160L	TSPAN17_ENST00000405525.2_Intron|TSPAN17_ENST00000503045.1_Intron|TSPAN17_ENST00000310032.8_Intron|TSPAN17_ENST00000508164.1_Intron|TSPAN17_ENST00000515708.1_Intron			Q96FV3	TSN17_HUMAN	tetraspanin 17	247						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCACTCTCCCCTCACCTGTCC	0.627000													11	28					0	0	0.000958276	0	0
POTEE	445582	broad.mit.edu	37	2	131976308	131976308	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:131976308G>A	ENST00000356920.5	+	1	427	c.333G>A	c.(331-333)ggG>ggA	p.G111G	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.G111G	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	111							ATP binding										GCTGCAGGGGGAGCGGCAAGA	0.602000													46	56					0	0	0.000781405	0	0
PGK2	5232	broad.mit.edu	37	6	49754528	49754528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:49754528G>A	ENST00000304801.3	-	1	525	c.373C>T	c.(373-375)Cat>Tat	p.H125Y		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	125					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TCCTCCACATGAAAGCGCAGG	0.512000													45	61					0	0	0.000781405	0	0
ATE1	11101	broad.mit.edu	37	10	123600660	123600660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:123600660G>A	ENST00000369043.3	-	9	1180	c.1094C>T	c.(1093-1095)tCt>tTt	p.S365F	ATE1_ENST00000224652.6_Missense_Mutation_p.S365F|ATE1_ENST00000535655.1_Missense_Mutation_p.S66F|ATE1_ENST00000543447.1_Missense_Mutation_p.S250F|ATE1_ENST00000540606.1_Missense_Mutation_p.S358F|ATE1_ENST00000369040.3_Missense_Mutation_p.S269F|ATE1_ENST00000481784.1_5'UTR	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	365					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CAAATACACAGATGATACACA	0.453000													5	1					0	0	0.000602214	0	0
MORC1	27136	broad.mit.edu	37	3	108751625	108751625	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:108751625C>T	ENST00000232603.5	-	16	1589	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	MORC1_ENST00000483760.1_Missense_Mutation_p.E503K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	503					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AATTCTTTTTCCTGATAATTA	0.289000													40	37					0	0	0.000781405	0	0
CDK18	5129	broad.mit.edu	37	1	205492680	205492680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:205492680G>A	ENST00000360066.2	+	3	501	c.200G>A	c.(199-201)gGg>gAg	p.G67E	CDK18_ENST00000429964.2_Missense_Mutation_p.G67E|CDK18_ENST00000506784.1_Missense_Mutation_p.G67E|CDK18_ENST00000509056.1_Intron	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	65							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						ACAGACAGCGGGGAGGAGCCG	0.677000													5	4					0	0	0.000157383	0	0
ABCC9	10060	broad.mit.edu	37	12	22069894	22069894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:22069894C>T	ENST00000261200.4	-	4	549	c.550G>A	c.(550-552)Gag>Aag	p.E184K	ABCC9_ENST00000345162.2_Missense_Mutation_p.E184K|ABCC9_ENST00000261201.4_Missense_Mutation_p.E184K	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	184					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACATTGATCTCCACAGCCATC	0.413000													119	150					0	0	0.000781405	0	0
PARL	55486	broad.mit.edu	37	3	183547481	183547481	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:183547481C>A	ENST00000317096.4	-	10	1105	c.1045G>T	c.(1045-1047)Ggt>Tgt	p.G349C	PARL_ENST00000435888.1_Missense_Mutation_p.G265C|PARL_ENST00000311101.5_Missense_Mutation_p.G299C	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	349					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGTTCATGACCGTAAGTAACA	0.428000													6	216					0.00198382	0.00936454	0.00198382	1	0
ZMYM1	79830	broad.mit.edu	37	1	35563145	35563145	+	Silent	SNP	A	A	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:35563145A>C	ENST00000373330.1	+	5	571	c.397A>C	c.(397-399)Aga>Cga	p.R133R	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.R133R			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	133						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCCTTCTAAGAGAACTTGTTC	0.368000													16	90					0	0	0.000422831	0	0
MYBPC2	4606	broad.mit.edu	37	19	50938457	50938457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:50938457G>A	ENST00000357701.5	+	2	110	c.59G>A	c.(58-60)gGa>gAa	p.G20E		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	20					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GCCCCCAAAGGAGCCCCCAAG	0.617000													6	6					0	0	0.000157383	0	0
TENM4	26011	broad.mit.edu	37	11	78412817	78412817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:78412817C>T	ENST00000278550.7	-	28	5303	c.4841G>A	c.(4840-4842)gGg>gAg	p.G1614E		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GTCGCCGTCCCCAGTGTAGGT	0.547000													63	46					0	0	0.000781405	0	0
COL6A5	256076	broad.mit.edu	37	3	130159661	130159661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:130159661C>T	ENST00000265379.6	+	35	6973	c.6479C>T	c.(6478-6480)tCg>tTg	p.S2160L	COL6A5_ENST00000432398.2_Missense_Mutation_p.S2160L			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2160	Nonhelical region.				axon guidance|cell adhesion	collagen		p.S2160L(1)|p.S199L(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTTTATACTCGGTCAGGCGT	0.323000													11	17					0	0	0.00136819	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883558	19883558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:19883558G>A	ENST00000300571.2	-	2	801	c.610C>T	c.(610-612)Ctc>Ttc	p.L204F	GPRC5B_ENST00000569847.1_Missense_Mutation_p.L204F|GPRC5B_ENST00000537135.1_Missense_Mutation_p.L230F|GPRC5B_ENST00000569479.1_Missense_Mutation_p.L204F|GPRC5B_ENST00000535671.1_Missense_Mutation_p.L204F	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	204										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCGTAGATGAGGGCCATCACA	0.602000													24	66					0	0	0.00106085	0	0
HIC2	23119	broad.mit.edu	37	22	21800468	21800468	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:21800468G>A	ENST00000443632.2	+	2	1656	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R	HIC2_ENST00000407464.2_Silent_p.R428R|HIC2_ENST00000407598.2_Silent_p.R428R			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	428					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				ACATGTACCGGCAGGAGGGCT	0.632000													16	55					0	0	0.00121646	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62788625	62788625	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:62788625G>A	ENST00000582986.1	-	0	1984					NR_024386.1																						GCTGGGCCCGGATCTGCGTCA	0.607000													47	37					0	0	0.000781405	0	0
HPN	3249	broad.mit.edu	37	19	35551533	35551533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:35551533G>A	ENST00000262626.2	+	9	1448	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	HPN_ENST00000597419.1_Missense_Mutation_p.R50Q|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Missense_Mutation_p.R208Q	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	208	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CCTGGTAGGCGGAACCGGGTC	0.692000													18	24					0	0	0.00188189	0	0
KRT80	144501	broad.mit.edu	37	12	52565271	52565271	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:52565271G>C	ENST00000394815.2	-	9	1367	c.1270C>G	c.(1270-1272)Cga>Gga	p.R424G	KRT80_ENST00000313234.5_3'UTR	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	424	Tail.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TTCTTCTTTCGGGAGGGGGCC	0.562000													20	51					0	0	0.00188189	0	0
ALPK2	115701	broad.mit.edu	37	18	56204337	56204337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:56204337G>A	ENST00000361673.3	-	5	3295	c.3082C>T	c.(3082-3084)Cct>Tct	p.P1028S	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1028							ATP binding|protein serine/threonine kinase activity	p.P1028T(1)|p.P389T(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTGTCCTCAGGAATTGACACA	0.483000													41	59					0	0	0.00222228	0	0
WBSCR22	114049	broad.mit.edu	37	7	73108353	73108353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:73108353C>T	ENST00000265758.2	+	10	732	c.674C>T	c.(673-675)cCc>cTc	p.P225L	WBSCR22_ENST00000423497.1_Missense_Mutation_p.P225L|WBSCR22_ENST00000423166.2_3'UTR	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	225						nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				GAAGTTGAACCCAGGGAGTCT	0.542000													24	97					0	0	0.000720815	0	0
KDM3B	51780	broad.mit.edu	37	5	137756620	137756620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:137756620C>T	ENST00000314358.5	+	15	4141	c.3941C>T	c.(3940-3942)cCc>cTc	p.P1314L	KDM3B_ENST00000394866.1_Missense_Mutation_p.P970L|KDM3B_ENST00000542866.1_Missense_Mutation_p.P346L	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1314					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ACAGGCATACCCTTTCCCCCG	0.512000													40	20					0	0	0.000781405	0	0
PPM1H	57460	broad.mit.edu	37	12	63195772	63195772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:63195772C>T	ENST00000228705.6	-	3	880	c.580G>A	c.(580-582)Gag>Aag	p.E194K		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	194	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TCAGGCTCCTCCCCCAGGCAG	0.716000													28	57					0	0	0.00209593	0	0
FADS3	3995	broad.mit.edu	37	11	61643405	61643405	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:61643405G>A	ENST00000278829.2	-	11	1356	c.1204C>T	c.(1204-1206)Ccg>Tcg	p.P402S	FADS3_ENST00000525588.1_Missense_Mutation_p.P374S|FADS3_ENST00000540820.1_3'UTR|FADS3_ENST00000527697.1_Missense_Mutation_p.P287S	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	402					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTGACCAGCGGGGCCACCCGG	0.652000													40	79					0	0	0.00222228	0	0
SNX24	28966	broad.mit.edu	37	5	122281819	122281819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:122281819G>A	ENST00000261369.4	+	3	399	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	SNX24_ENST00000513881.1_Missense_Mutation_p.E72K|SNX24_ENST00000395451.4_Missense_Mutation_p.E105K|SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000506996.1_Missense_Mutation_p.E72K	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	72	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		CAAAGTCTTGGAACAGCGACG	0.333000													15	23					0	0	0.000958276	0	0
NOL4	8715	broad.mit.edu	37	18	31802988	31802988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:31802988G>A	ENST00000261592.5	-	1	527	c.230C>T	c.(229-231)gCc>gTc	p.A77V	NOL4_ENST00000269185.4_5'UTR|RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000589544.1_Missense_Mutation_p.A77V	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	77						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CACTTGCTTGGCGCCGCCGCC	0.622000													15	30					0	0	0.000422831	0	0
CLK1	1195	broad.mit.edu	37	2	201718127	201718127	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:201718127G>T	ENST00000434813.2	-	13	1817	c.1483C>A	c.(1483-1485)Ctc>Atc	p.L495I	CLK1_ENST00000321356.4_Missense_Mutation_p.L453I|CLK1_ENST00000409769.2_Missense_Mutation_p.L276I	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	453					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTCTGAATGAGGTCAAAGAGA	0.363000													54	45					4.6707e-30	2.26158e-29	0.000781405	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3678723	3678723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:3678723C>T	ENST00000344754.4	-	8	1843	c.1844G>A	c.(1843-1845)gGg>gAg	p.G615E	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.G615E	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	615	Ig-like C2-type 6.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCGTCCAGCCCCGGCCCCAGC	0.657000													8	10					0	0	0.000157383	0	0
COX6B1	1340	broad.mit.edu	37	19	36142191	36142191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:36142191C>T	ENST00000246554.3	+	2	238	c.46C>T	c.(46-48)Cct>Tct	p.P16S	COX6B1_ENST00000392201.1_Missense_Mutation_p.P16S|COX6B1_ENST00000592141.1_Missense_Mutation_p.P16S	NM_001863.4	NP_001854.1	P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	16					respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity			lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAAGACCGCCCCTTTTGACAG	0.572000													12	26					0	0	0.000308642	0	0
SART3	9733	broad.mit.edu	37	12	108939021	108939021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:108939021G>A	ENST00000228284.3	-	4	857	c.623C>T	c.(622-624)tCc>tTc	p.S208F	SART3_ENST00000431469.2_Missense_Mutation_p.S208F	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	208					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTCAAACACGGAGCGAACTTT	0.468000									Porokeratosis				44	40					0	0	0.000589545	0	0
CDH20	28316	broad.mit.edu	37	18	59206374	59206374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:59206374G>A	ENST00000262717.4	+	9	1924	c.1526G>A	c.(1525-1527)gGa>gAa	p.G509E	CDH20_ENST00000538374.1_Missense_Mutation_p.G509E|CDH20_ENST00000536675.2_Missense_Mutation_p.G509E			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	509	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GCCAAGGCAGGACAGGTAAGG	0.453000													90	79					0	0	0.000781405	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548624	20548624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:20548624G>A	ENST00000329697.6	-	14	1858	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R564*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R564*|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.R485*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	564					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.R564*(2)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCCTTGTCTCGAAGTTTGGTT	0.463000													113	86					0	0	0.000781405	0	0
IGKV3-7	28915	broad.mit.edu	37	2	89278134	89278134	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:89278134G>A	ENST00000390247.2	-	0	297																											CATAGATGAGGAGCCTGGGCG	0.592000													38	55					0	0	0.00148497	0	0
ACACB	32	broad.mit.edu	37	12	109692107	109692107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:109692107C>T	ENST00000338432.7	+	44	6253	c.6134C>T	c.(6133-6135)cCc>cTc	p.P2045L	ACACB_ENST00000377854.5_Missense_Mutation_p.P1975L|ACACB_ENST00000377848.3_Missense_Mutation_p.P2045L|ACACB_ENST00000543201.1_Missense_Mutation_p.P711L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2045	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCCTACGACCCCCGGTGGATG	0.493000													75	62					0	0	0.000781405	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030225	95030225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:95030225G>A	ENST00000557004.1	+	2	827	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.E136K|SERPINA4_ENST00000555095.1_Missense_Mutation_p.E136K			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	136					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCATGGGCTGGAAACACGCGT	0.567000													44	36					0	0	0.000781405	0	0
CENPJ	55835	broad.mit.edu	37	13	25479569	25479569	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:25479569G>A	ENST00000381884.4	-	7	2792	c.2607C>T	c.(2605-2607)ttC>ttT	p.F869F	CENPJ_ENST00000545981.1_Silent_p.F869F	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	869					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AAGAAGGAAAGAATTTCATCA	0.423000													48	27					0	0	0.000781405	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139743	142139743	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:142139743C>T	ENST00000390374.3	-	0	72																											AAACCCAGGACCACCCAGCAT	0.532000													87	27					0	0	0.000781405	0	0
SDPR	8436	broad.mit.edu	37	2	192700920	192700920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:192700920C>T	ENST00000304141.4	-	2	1336	c.1007G>A	c.(1006-1008)gGt>gAt	p.G336D		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	336						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TTCGGAATGACCCTCTGCAAA	0.572000													60	69					0	0	0.000781405	0	0
MBL2	4153	broad.mit.edu	37	10	54531369	54531369	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:54531369G>A	ENST00000373968.3	-	1	91	c.27C>T	c.(25-27)ctC>ctT	p.L9L		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	9					acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TCAGGAGAAGGAGAGGGAGTG	0.502000													14	13					0	0	0.000308642	0	0
WNT2B	7482	broad.mit.edu	37	1	113059861	113059861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:113059861G>A	ENST00000369684.4	+	4	1285	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	WNT2B_ENST00000369686.4_Missense_Mutation_p.R248Q|WNT2B_ENST00000256640.5_Missense_Mutation_p.R175Q	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	267					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACCTGCGGCGACGCTATGAT	0.607000													52	18					0	0	0.000781405	0	0
TDRD5	163589	broad.mit.edu	37	1	179562978	179562978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:179562978G>A	ENST00000444136.1	+	3	866	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	TDRD5_ENST00000367614.1_Missense_Mutation_p.E206K|TDRD5_ENST00000294848.8_Missense_Mutation_p.E206K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	206	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGTAACAGAGGAAAAGCCGAG	0.453000													12	36					0	0	0.00185496	0	0
KIF2A	3796	broad.mit.edu	37	5	61648535	61648535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:61648535C>T	ENST00000381103.2	+	6	880	c.395C>T	c.(394-396)cCt>cTt	p.P132L	KIF2A_ENST00000506857.1_Intron|KIF2A_ENST00000407818.3_Missense_Mutation_p.P152L|KIF2A_ENST00000401507.3_Missense_Mutation_p.P152L|KIF2A_ENST00000509663.2_Intron	NM_001243952.1	NP_001230881.1	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	152	Globular (Potential).				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TTTGGACCCCCTTGTATGTAA	0.378000													13	23					0	0	0.00185496	0	0
TRIM71	131405	broad.mit.edu	37	3	32932199	32932199	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:32932199G>A	ENST00000383763.4	+	4	1566	c.1503G>A	c.(1501-1503)aaG>aaA	p.K501K		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	501					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCAGGGTAAGGTGGCCTCCT	0.602000													14	17					0	0	0.000308642	0	0
CACNA1D	776	broad.mit.edu	37	3	53760973	53760973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:53760973C>T	ENST00000288139.3	+	16	2346	c.2228C>T	c.(2227-2229)tCt>tTt	p.S743F	CACNA1D_ENST00000422281.2_Missense_Mutation_p.S723F|CACNA1D_ENST00000350061.5_Missense_Mutation_p.S723F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	723					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGCCCATCCTCTTCAGGAATG	0.502000													105	17					0	0	0.000781405	0	0
NFRKB	4798	broad.mit.edu	37	11	129734737	129734737	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:129734737G>A	ENST00000446488.3	-	26	3886	c.3783C>T	c.(3781-3783)atC>atT	p.I1261I	NFRKB_ENST00000524746.1_Silent_p.I1261I|NFRKB_ENST00000304521.5_Silent_p.I1261I|NFRKB_ENST00000524794.1_Silent_p.I1286I	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1261	Gln-rich.				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GGACAGTCTGGATGCGCACCT	0.532000													48	9					0	0	0.000781405	0	0
PTPN22	26191	broad.mit.edu	37	1	114380814	114380814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:114380814G>A	ENST00000359785.5	-	13	1343	c.1208C>T	c.(1207-1209)cCa>cTa	p.P403L	PTPN22_ENST00000528414.1_Missense_Mutation_p.P348L|PTPN22_ENST00000420377.2_Missense_Mutation_p.P403L|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000525799.1_Missense_Mutation_p.P276L|PTPN22_ENST00000538253.1_Missense_Mutation_p.P159L	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	403					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCAACTATTGGAAATGCCTT	0.403000													17	62					0	0	0.000566183	0	0
PCLO	27445	broad.mit.edu	37	7	82545449	82545449	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:82545449C>T	ENST00000423517.2	-	7	12190	c.11853G>A	c.(11851-11853)caG>caA	p.Q3951Q	PCLO_ENST00000333891.8_Silent_p.Q3951Q|PCLO_ENST00000437081.1_Silent_p.Q671Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3882					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTGAAGGTAACTGATAAGAAG	0.438000													91	419					0	0	0.000781405	0	0
KREMEN1	83999	broad.mit.edu	37	22	29533461	29533461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:29533461C>T	ENST00000400338.2	+	6	816	c.763C>T	c.(763-765)Cac>Tac	p.H255Y	KREMEN1_ENST00000407188.1_Missense_Mutation_p.H253Y|KREMEN1_ENST00000327813.5_Missense_Mutation_p.H255Y|KREMEN1_ENST00000400335.4_Missense_Mutation_p.H255Y			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	253	CUB.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CTCCCACATCCACTTCAGCTT	0.612000													46	41					0	0	0.000781405	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263830	140263830	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140263830G>A	ENST00000289272.2	+	1	1977	c.1977G>A	c.(1975-1977)ctG>ctA	p.L659L	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.L659L|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCGCGCTGACGGCCACGG	0.697000													22	64					0	0	0.00188189	0	0
DUSP13	51207	broad.mit.edu	37	10	76855425	76855425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:76855425C>T	ENST00000491677.2	-	7	1231	c.689G>A	c.(688-690)gGc>gAc	p.G230D	DUSP13_ENST00000472493.2_Missense_Mutation_p.G101D|DUSP13_ENST00000607131.1_Missense_Mutation_p.G194D|DUSP13_ENST00000478873.2_Missense_Mutation_p.G237D|DUSP13_ENST00000605915.1_Missense_Mutation_p.G123D|DUSP13_ENST00000372700.3_Missense_Mutation_p.G151D|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Intron	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	92						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CGCCTCGATGCCATAGTACTC	0.552000													80	12					0	0	0.000781405	0	0
MXRA5	25878	broad.mit.edu	37	X	3235706	3235706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:3235706C>T	ENST00000217939.6	-	6	6170	c.6016G>A	c.(6016-6018)Gaa>Aaa	p.E2006K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2006	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCCGGTTTTCGTGCAGGGTG	0.622000													25	3					0	0	0.000720815	0	0
TMEM74	157753	broad.mit.edu	37	8	109796737	109796737	+	Silent	SNP	G	G	A	rs139123399		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:109796737G>A	ENST00000297459.3	-	2	769	c.591C>T	c.(589-591)atC>atT	p.I197I	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	197					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CCCGTGGGACGATGTAAGAGA	0.572000													30	71					0	0	0.00178596	0	0
NEB	4703	broad.mit.edu	37	2	152522714	152522714	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:152522714G>A	ENST00000427231.2	-	41	5123	c.4921C>T	c.(4921-4923)Cag>Tag	p.Q1641*	NEB_ENST00000397345.3_Nonsense_Mutation_p.Q1641*|NEB_ENST00000603639.1_Nonsense_Mutation_p.Q1641*|NEB_ENST00000172853.10_Nonsense_Mutation_p.Q1641*|NEB_ENST00000604864.1_Nonsense_Mutation_p.Q1641*|NEB_ENST00000409198.1_Nonsense_Mutation_p.Q1641*	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1641					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCAACCTCCTGAGATTTCTTT	0.502000													89	111					0	0	0.000781405	0	0
SPAM1	6677	broad.mit.edu	37	7	123594319	123594319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:123594319C>T	ENST00000340011.5	+	3	1052	c.695C>T	c.(694-696)cCc>cTc	p.P232L	SPAM1_ENST00000402183.2_Missense_Mutation_p.P232L|SPAM1_ENST00000223028.7_Missense_Mutation_p.P232L|SPAM1_ENST00000460182.1_Missense_Mutation_p.P232L|SPAM1_ENST00000439500.1_Missense_Mutation_p.P232L	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	232					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TATAAGAAACCCGGTTACAAT	0.368000													42	86					0	0	0.00170553	0	0
ADORA3	140	broad.mit.edu	37	1	112031393	112031393	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:112031393G>A	ENST00000369716.4	-	3	844	c.711C>T	c.(709-711)atC>atT	p.I237I	ADORA3_ENST00000369717.4_Silent_p.I156I	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AGTCCCGCTGGATGCCACACC	0.527000													7	30					0	0	0.000274275	0	0
COL1A2	1278	broad.mit.edu	37	7	94049548	94049548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:94049548G>A	ENST00000297268.6	+	35	2554	c.2083G>A	c.(2083-2085)Gaa>Aaa	p.E695K		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	695			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ATTATAGGGCGAAGCTGGGGc	0.502000										HNSCC(75;0.22)			34	108					0	0	0.00209593	0	0
ZNF268	10795	broad.mit.edu	37	12	133764608	133764608	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:133764608C>T	ENST00000536435.2	+	3	514	c.184C>T	c.(184-186)Cta>Tta	p.L62L	ZNF268_ENST00000541211.2_Silent_p.L62L|ZNF268_ENST00000536899.2_Intron|ZNF268_ENST00000542711.2_Intron|CTD-2140B24.4_ENST00000540096.2_Silent_p.L227L|ZNF268_ENST00000592241.1_Intron|ZNF268_ENST00000539248.2_Silent_p.L62L|ZNF268_ENST00000541009.2_Silent_p.L62L|ZNF268_ENST00000228289.5_Silent_p.L62L|ZNF268_ENST00000542986.2_Silent_p.L62L|ZNF268_ENST00000416488.1_Silent_p.L227L|ZNF268_ENST00000537565.1_Intron	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	62						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AGAGAAAGTCCTAGAGTGGCT	0.463000													5	4					0	0	0.00198382	0	0
ZFHX3	463	broad.mit.edu	37	16	72827203	72827203	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:72827203G>A	ENST00000268489.5	-	9	10050	c.9378C>T	c.(9376-9378)ctC>ctT	p.L3126L	ZFHX3_ENST00000397992.5_Silent_p.L2212L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3126					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGAGGCCCGGGAGCAACACAG	0.562000													27	74					0	0	0.00106085	0	0
LLGL2	3993	broad.mit.edu	37	17	73569259	73569259	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:73569259G>A	ENST00000392550.3	+	20	2742	c.2625G>A	c.(2623-2625)gtG>gtA	p.V875V	LLGL2_ENST00000577200.1_Silent_p.V875V|LLGL2_ENST00000167462.5_Silent_p.V875V	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	875					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ACATCCAGGTGGTCTCGCTGC	0.657000													54	6					0	0	0.000781405	0	0
LEPR	3953	broad.mit.edu	37	1	66036256	66036256	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:66036256C>T	ENST00000349533.6	+	4	326	c.141C>T	c.(139-141)ttC>ttT	p.F47F	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371058.1_Silent_p.F47F|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000371059.3_Silent_p.F47F|LEPR_ENST00000344610.8_Silent_p.F47F|LEPR_ENST00000371060.3_Silent_p.F47F	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	47					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATGACTACTTCCTTTTGCCTG	0.353000													87	45					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9090497	9090497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9090497G>A	ENST00000397910.4	-	1	1521	c.1318C>T	c.(1318-1320)Ctt>Ttt	p.L440F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	440	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						GAGGTCTCAAGTGGAGTCATA	0.473000													80	49					0	0	0.000781405	0	0
HCCS	3052	broad.mit.edu	37	X	11139886	11139886	+	Missense_Mutation	SNP	G	G	A	rs145499860		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:11139886G>A	ENST00000321143.4	+	7	965	c.763G>A	c.(763-765)Gta>Ata	p.V255I	ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380762.4_Missense_Mutation_p.V255I|HCCS_ENST00000380763.3_Missense_Mutation_p.V255I	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	255					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						ACTTTCGGCAGTATGGGACAG	0.413000													22	1					0	0	0.000375601	0	0
MEFV	4210	broad.mit.edu	37	16	3304424	3304424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:3304424C>T	ENST00000219596.1	-	2	683	c.644G>A	c.(643-645)gGg>gAg	p.G215E	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	215					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCCCGCCAGCCCCTGCAGCCT	0.711000													24	12					0	0	0.00047179	0	0
USP6NL	9712	broad.mit.edu	37	10	11505568	11505568	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:11505568G>A	ENST00000379237.1	-	15	1753	c.1359C>T	c.(1357-1359)ctC>ctT	p.L453L	USP6NL_ENST00000277575.5_Silent_p.L470L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	453						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GACCCGATGGGAGTTTTCTTT	0.507000													60	47					0	0	0.000781405	0	0
KIF12	113220	broad.mit.edu	37	9	116854270	116854270	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:116854270C>T	ENST00000374118.3	-	16	1650	c.1413G>A	c.(1411-1413)ggG>ggA	p.G471G		NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	604					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GGTTTGGAACCCCGGCCCCAC	0.667000													25	2					0	0	0.000586117	0	0
CDH20	28316	broad.mit.edu	37	18	59166487	59166487	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:59166487C>G	ENST00000262717.4	+	3	713	c.315C>G	c.(313-315)atC>atG	p.I105M	CDH20_ENST00000538374.1_Missense_Mutation_p.I105M|CDH20_ENST00000536675.2_Missense_Mutation_p.I105M			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	105	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GTGCTGGCATCGTGTTTACCA	0.517000													13	30					0	0	0.000422831	0	0
TRRAP	8295	broad.mit.edu	37	7	98575900	98575900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:98575900C>T	ENST00000359863.4	+	56	8640	c.8431C>T	c.(8431-8433)Cct>Tct	p.P2811S	TRRAP_ENST00000355540.3_Missense_Mutation_p.P2793S|TRRAP_ENST00000446306.3_Missense_Mutation_p.P2793S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2811	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TAACGCCTCCCCTGCTATTTT	0.418000													20	119					0	0	0.00121646	0	0
CXCR3	2833	broad.mit.edu	37	X	70836566	70836566	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:70836566C>T	ENST00000373691.4	-	2	1060	c.897G>A	c.(895-897)cgG>cgA	p.R299R	CXCR3_ENST00000373693.3_Silent_p.R252R	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	252					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GCCGCATGGCCCGCAGGCGCC	0.662000													5	1					0	0	0.00116845	0	0
SLC16A13	201232	broad.mit.edu	37	17	6942127	6942127	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:6942127G>T	ENST00000308027.6	+	3	1308	c.1000G>T	c.(1000-1002)Ggg>Tgg	p.G334W		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	334						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TGAACTAATAGGGACTAGAAG	0.602000													11	349					1.49906e-05	7.1439e-05	0.000219431	1	0
ZSCAN10	84891	broad.mit.edu	37	16	3141587	3141587	+	Silent	SNP	G	G	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:3141587G>T	ENST00000252463.2	-	4	663	c.576C>A	c.(574-576)acC>acA	p.T192T	ZSCAN10_ENST00000538082.2_Silent_p.T110T|ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000572548.1_3'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	192					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CATCCTCAAAGGTCAGGCACT	0.527000													38	29					5.48756e-27	2.65487e-26	0.000589545	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142481149	142481149	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:142481149G>A	ENST00000603901.1	+	0	223					NR_001296.3																						GAGACTGGGAGAGCACAATAT	0.532000													9	0					0	0	0.000274275	0	0
SPATA5	166378	broad.mit.edu	37	4	124177183	124177183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:124177183C>T	ENST00000274008.3	+	15	2422	c.2353C>T	c.(2353-2355)Cct>Tct	p.P785S		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	785					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TTTGATGCGGCCTGGAAGAAT	0.408000													20	28					0	0	0.000586117	0	0
DLEC1	9940	broad.mit.edu	37	3	38101301	38101301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:38101301G>A	ENST00000308059.6	+	3	652	c.631G>A	c.(631-633)Gat>Aat	p.D211N	DLEC1_ENST00000346219.3_Missense_Mutation_p.D211N|DLEC1_ENST00000452631.2_Missense_Mutation_p.D211N			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	211					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CTCCCCAGAAGATTACTACAC	0.478000													61	144					0	0	0.000781405	0	0
LYZ	4069	broad.mit.edu	37	12	69742288	69742288	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:69742288G>A	ENST00000261267.2	+	1	168	c.100G>A	c.(100-102)Gga>Aga	p.G34R	LYZ_ENST00000549690.1_Missense_Mutation_p.G34R|LYZ_ENST00000548839.1_Missense_Mutation_p.G34R	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme	34					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			GAAAAGATTGGGAATGGATGG	0.473000													10	41					0	0	0.000978159	0	0
RABEP2	79874	broad.mit.edu	37	16	28925884	28925884	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:28925884G>A	ENST00000358201.4	-	5	1155	c.567C>T	c.(565-567)tcC>tcT	p.S189S	RABEP2_ENST00000544477.1_Silent_p.S118S|RABEP2_ENST00000357573.6_Silent_p.S189S	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	189					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						AGCCGTGCAGGGAAGGGGCAT	0.721000													10	9					0	0	0.00136819	0	0
HTT	3064	broad.mit.edu	37	4	3189409	3189409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:3189409C>T	ENST00000355072.5	+	39	5166	c.5021C>T	c.(5020-5022)tCg>tTg	p.S1674L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1674					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTGTGGATATCGGGAATTCTG	0.403000													45	61					0	0	0.000781405	0	0
ZNF677	342926	broad.mit.edu	37	19	53740812	53740812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:53740812G>A	ENST00000333952.4	-	5	1333	c.1168C>T	c.(1168-1170)Ctt>Ttt	p.L390F	ZNF677_ENST00000598513.1_Missense_Mutation_p.L390F			Q86XU0	ZN677_HUMAN	zinc finger protein 677	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TGTTGGGTAAGGCTTGAACGT	0.413000													60	53					0	0	0.000781405	0	0
ACE	1636	broad.mit.edu	37	17	61557834	61557834	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:61557834C>T	ENST00000290866.4	+	5	816	c.792C>T	c.(790-792)cgC>cgT	p.R264R	ACE_ENST00000428043.1_Silent_p.R264R|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Silent_p.R264R	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	264	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CACTGCATCGCCGATACGGAG	0.597000													47	39					0	0	0.000781405	0	0
DCC	1630	broad.mit.edu	37	18	50705414	50705414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:50705414C>T	ENST00000442544.2	+	9	2117	c.1501C>T	c.(1501-1503)Cga>Tga	p.R501*	DCC_ENST00000412726.1_Nonsense_Mutation_p.R349*|DCC_ENST00000581580.1_Nonsense_Mutation_p.R156*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	501	Fibronectin type-III 1.				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)		GTACACCTTTCGAGTTGTGGC	0.507000													16	22					0	0	0.000958276	0	0
TMEM215	401498	broad.mit.edu	37	9	32784861	32784861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:32784861G>A	ENST00000342743.5	+	2	1045	c.680G>A	c.(679-681)gGc>gAc	p.G227D		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	227						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CAGATACAAGGCAGGTGGGAC	0.473000													33	4					0	0	0.0024448	0	0
HSCB	150274	broad.mit.edu	37	22	29139939	29139939	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:29139939C>T	ENST00000216027.3	+	2	371	c.306C>T	c.(304-306)caC>caT	p.H102H	HSCB_ENST00000398941.2_Silent_p.H102H|HSCB_ENST00000495977.1_3'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	102	J.				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						GTCTTGTCCACCCAGATTTCT	0.483000													46	105					0	0	0.000781405	0	0
C22orf29	79680	broad.mit.edu	37	22	19839296	19839296	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:19839296G>A	ENST00000405640.1	-	2	1157	c.489C>T	c.(487-489)ccC>ccT	p.P163P	GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Silent_p.P163P|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Silent_p.P163P			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	163										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CGTCAGGCAGGGGCAGGTCCC	0.582000													35	60					0	0	0.00111076	0	0
TNS4	84951	broad.mit.edu	37	17	38652407	38652407	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:38652407G>T	ENST00000254051.6	-	2	429	c.271C>A	c.(271-273)Cca>Aca	p.P91T		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	91					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P91T(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGGTCCTCTGGGGTCCCCAAG	0.632000													52	8					1.78197e-24	8.61383e-24	0.000781405	1	0
MYT1	4661	broad.mit.edu	37	20	62848472	62848472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:62848472C>T	ENST00000536311.1	+	11	2048	c.1684C>T	c.(1684-1686)Ccc>Tcc	p.P562S	MYT1_ENST00000360149.4_Missense_Mutation_p.P264S|MYT1_ENST00000328439.1_Missense_Mutation_p.P562S			Q01538	MYT1_HUMAN	myelin transcription factor 1	562					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GAGCTACCGGCCCAACGTGGC	0.597000													24	81					0	0	0.000586117	0	0
VPS28	51160	broad.mit.edu	37	8	145649612	145649612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:145649612G>A	ENST00000377348.2	-	8	531	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	VPS28_ENST00000526054.1_Missense_Mutation_p.R148C|VPS28_ENST00000292510.4_Missense_Mutation_p.R148C|VPS28_ENST00000529182.1_Missense_Mutation_p.R148C	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	148	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TCCATGGCGCGGATCTCCAGG	0.677000													19	62					0	0	0.00188189	0	0
C2orf53	339779	broad.mit.edu	37	2	27360021	27360021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:27360021G>A	ENST00000335524.3	-	3	1702	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	393										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGGGCAAGGCCTGGGCTTC	0.587000													45	39					0	0	0.000781405	0	0
UBBP4	23666	broad.mit.edu	37	17	21731254	21731254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:21731254G>A	ENST00000584755.1	+	2	953	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CCAAGATAAAGAAGGCATCCC	0.527000													28	7					0	0	0.001512	0	0
TIE1	7075	broad.mit.edu	37	1	43774700	43774700	+	Silent	SNP	C	C	T	rs150072485		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:43774700C>T	ENST00000372476.3	+	8	1165	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	TIE1_ENST00000441333.2_Intron|TIE1_ENST00000433781.2_Silent_p.F7F	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	362					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AACTGGAGTTCAACTTAGAGA	0.607000													49	14					0	0	0.000781405	0	0
SFXN3	81855	broad.mit.edu	37	10	102799263	102799263	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:102799263A>G	ENST00000393459.1	+	12	1360	c.887A>G	c.(886-888)aAc>aGc	p.N296S	SFXN3_ENST00000466982.1_3'UTR|SFXN3_ENST00000224807.5_Missense_Mutation_p.N300S			Q9BWM7	SFXN3_HUMAN	sideroflexin 3	300					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CACATAAGCAACCTGGAACCA	0.557000													68	15					0	0	0.000781405	0	0
LPO	4025	broad.mit.edu	37	17	56344862	56344862	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:56344862G>A	ENST00000262290.4	+	12	2162	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	LPO_ENST00000543544.1_Missense_Mutation_p.E557K|LPO_ENST00000582328.1_Missense_Mutation_p.E533K|LPO_ENST00000421678.2_Missense_Mutation_p.E533K	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	616					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGCCATTGCTGAGCCGCTGGT	0.587000													35	23					0	0	0.00128727	0	0
SLC4A5	57835	broad.mit.edu	37	2	74492337	74492337	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:74492337G>A	ENST00000394019.2	-	9	853	c.456C>T	c.(454-456)ccC>ccT	p.P152P	SLC4A5_ENST00000357822.5_Silent_p.P152P|SLC4A5_ENST00000358683.4_Silent_p.P88P|SLC4A5_ENST00000346834.4_Silent_p.P152P|SLC4A5_ENST00000359484.4_Silent_p.P88P|SLC4A5_ENST00000377632.1_Silent_p.P152P|SLC4A5_ENST00000377634.4_Silent_p.P152P|SLC4A5_ENST00000423644.1_Silent_p.P152P|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	152						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGGACACGTGGGGCTTGCTCC	0.592000													63	96					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9066457	9066457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9066457G>A	ENST00000397910.4	-	3	21192	c.20989C>T	c.(20989-20991)Cct>Tct	p.P6997S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6999	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						GAAGGGCCAGGGATGGATGTT	0.483000													118	68					0	0	0.000781405	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554346	140554346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140554346G>A	ENST00000231137.3	+	1	2104	c.1930G>A	c.(1930-1932)Gtc>Atc	p.V644I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		644	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGCTGGTCAAGGACAA	0.711000													22	20					0	0	0.00178596	0	0
PCLO	27445	broad.mit.edu	37	7	82544905	82544905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:82544905G>A	ENST00000423517.2	-	7	12734	c.12397C>T	c.(12397-12399)Cgt>Tgt	p.R4133C	PCLO_ENST00000333891.8_Missense_Mutation_p.R4133C|PCLO_ENST00000437081.1_Missense_Mutation_p.R853C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4064					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCCCTCTACGAAATTCCTGT	0.408000													93	30					0	0	0.000781405	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76481971	76481971	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:76481971C>T	ENST00000307431.8	+	6	983	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.L200L|CNTNAP4_ENST00000478060.1_Silent_p.L176L|CNTNAP4_ENST00000476707.1_Silent_p.L204L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	201					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCAAAAATCCCTGAGCCCAAT	0.383000													47	26					0	0	0.000781405	0	0
OR5T2	219464	broad.mit.edu	37	11	56000154	56000154	+	Silent	SNP	G	G	A	rs142863951	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:56000154G>A	ENST00000313264.4	-	1	583	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ACTGAATACAGGAGAGGGTTG	0.438000													59	74					0	0	0.000781405	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710337	140710337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140710337G>A	ENST00000517417.1	+	1	86	c.86G>A	c.(85-87)gGg>gAg	p.G29E	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.G29E	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGGGCTGGGAATATTCAC	0.542000													31	65					0	0	0.001512	0	0
ENPEP	2028	broad.mit.edu	37	4	111397747	111397747	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:111397747C>T	ENST00000265162.5	+	1	519	c.177C>T	c.(175-177)caC>caT	p.H59H		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	59					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTCCTTCCCACCTGCCTTCTT	0.632000													33	45					0	0	0.000814825	0	0
OR5H14	403273	broad.mit.edu	37	3	97868918	97868918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:97868918C>T	ENST00000437310.1	+	1	749	c.689C>T	c.(688-690)tCt>tTt	p.S230F		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAAAAGAAGTCTGTCAAAGGT	0.378000													24	25					0	0	0.00127121	0	0
RSAD1	55316	broad.mit.edu	37	17	48562205	48562205	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:48562205C>T	ENST00000258955.2	+	9	1397	c.1312C>T	c.(1312-1314)Cct>Tct	p.P438S		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	438					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AACCCCCTCCCCTGTGCCAGG	0.577000													15	11					0	0	0.000422831	0	0
DEFB127	140850	broad.mit.edu	37	20	138224	138224	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:138224G>A	ENST00000382388.3	+	1	114	c.39G>A	c.(37-39)caG>caA	p.Q13Q		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	13					defense response to bacterium|innate immune response	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TGCTGTTCCAGAAACCCACAG	0.473000													52	30					0	0	0.000781405	0	0
GBX2	2637	broad.mit.edu	37	2	237074669	237074669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:237074669G>A	ENST00000306318.4	-	2	1332	c.935C>T	c.(934-936)tCc>tTc	p.S312F	GBX2_ENST00000551105.1_3'UTR|GBX2_ENST00000465889.1_5'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	312						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CCCTGTCTTGGAATTGGCATT	0.577000													54	38					0	0	0.000781405	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30722746	30722746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:30722746C>T	ENST00000215790.7	-	1	289	c.125G>A	c.(124-126)gGg>gAg	p.G42E	TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.G42E	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	42						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CGAGTCAGACCCGAGAGAGCT	0.741000													20	50					0	0	0.000878237	0	0
SNHG14	104472715	broad.mit.edu	37	15	25444446	25444446	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:25444446G>A	ENST00000424208.1	+	0	1719				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TGGGCCCAATGGACCCAGGCC	0.597000													7	15					0	0	0.00198382	0	0
LDHC	3948	broad.mit.edu	37	11	18472617	18472617	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:18472617C>T	ENST00000541669.1	+	8	1053	c.942C>T	c.(940-942)gcC>gcT	p.A314A	LDHC_ENST00000537486.1_3'UTR|LDHC_ENST00000536880.1_Silent_p.A300A|LDHC_ENST00000546146.1_3'UTR|LDHC_ENST00000535809.1_3'UTR|LDHC_ENST00000544105.1_3'UTR|LDHC_ENST00000280704.4_Silent_p.A314A			P07864	LDHC_HUMAN	lactate dehydrogenase C	314					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	AGGAGGAGGCCCTTTTCAAGA	0.368000													57	44					0	0	0.000781405	0	0
LMNA	4000	broad.mit.edu	37	1	156105073	156105073	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:156105073C>T	ENST00000368300.4	+	5	1118	c.906C>T	c.(904-906)ctC>ctT	p.L302L	LMNA_ENST00000448611.2_Silent_p.L190L|LMNA_ENST00000347559.2_Silent_p.L302L|LMNA_ENST00000392353.3_Silent_p.L221L|LMNA_ENST00000368297.1_Silent_p.L221L|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000368301.2_Silent_p.L302L|LMNA_ENST00000473598.2_Silent_p.L203L|LMNA_ENST00000368299.3_Silent_p.L302L|LMNA_ENST00000361308.4_Silent_p.L302L	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	302	Coil 2.|Rod.		L -> P (in MDCL).		cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					TCGACAGCCTCTCTGCCCAGC	0.652000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				40	44					0	0	0.00170553	0	0
LMTK3	114783	broad.mit.edu	37	19	49000740	49000740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:49000740C>T	ENST00000600059.1	-	11	3813	c.3586G>A	c.(3586-3588)Gac>Aac	p.D1196N	LMTK3_ENST00000270238.3_Missense_Mutation_p.D1225N					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TTGGGGGGGTCCCCGTCTCCG	0.711000													11	18					0	0	0.00136819	0	0
GAD2	2572	broad.mit.edu	37	10	26508071	26508071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:26508071C>T	ENST00000376261.3	+	4	889	c.386C>T	c.(385-387)tCa>tTa	p.S129L	GAD2_ENST00000376248.1_Missense_Mutation_p.S15L|GAD2_ENST00000259271.3_Missense_Mutation_p.S129L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	129					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TTCGATAGATCAACCAAAGTG	0.403000													38	117					0	0	0.000953801	0	0
PLXDC2	84898	broad.mit.edu	37	10	20500617	20500617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:20500617C>T	ENST00000377252.3	+	10	1922	c.1081C>T	c.(1081-1083)Cgt>Tgt	p.R361C	PLXDC2_ENST00000377242.3_Missense_Mutation_p.R312C|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	361	PSI.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TGGATTTGATCGTCATCGGCA	0.438000													32	27					0	0	0.00195071	0	0
LRP5L	91355	broad.mit.edu	37	22	25755850	25755850	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:25755850G>A	ENST00000444995.3	-	4	910	c.210C>T	c.(208-210)atC>atT	p.I70I	LRP5L_ENST00000402859.2_Silent_p.I70I|LRP5L_ENST00000402785.2_Silent_p.I70I			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	70										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CTGACACCAGGATCTTGTGGG	0.612000													58	118					0	0	0.000781405	0	0
SGCZ	137868	broad.mit.edu	37	8	14181688	14181688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:14181688G>A	ENST00000382080.1	-	3	975	c.260C>T	c.(259-261)aCc>aTc	p.T87I	SGCZ_ENST00000421524.2_Intron	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	74					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TCCCTTCTTGGTGACTCTCAG	0.368000													22	20					0	0	0.000878237	0	0
HIF3A	64344	broad.mit.edu	37	19	46828875	46828875	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:46828875G>T	ENST00000339613.2	+	11	1506	c.1251G>T	c.(1249-1251)gaG>gaT	p.E417D	HIF3A_ENST00000377670.4_Missense_Mutation_p.E473D|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.E404D|HIF3A_ENST00000244303.6_Missense_Mutation_p.E404D|HIF3A_ENST00000420102.2_Missense_Mutation_p.E422D|HIF3A_ENST00000300862.3_Missense_Mutation_p.E471D|HIF3A_ENST00000472815.1_Missense_Mutation_p.E404D			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGGCAGTGGAGACAGATTTAG	0.512000													39	55					5.59293e-11	2.6832e-10	0.00148497	1	0
RND1	27289	broad.mit.edu	37	12	49258632	49258632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:49258632C>T	ENST00000309739.5	-	2	272	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	48					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GTGTAATTTTCGAACACGGTG	0.517000													48	67					0	0	0.000781405	0	0
PLD2	5338	broad.mit.edu	37	17	4711584	4711584	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:4711584C>T	ENST00000263088.6	+	4	387	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	PLD2_ENST00000572940.1_Silent_p.L86L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	86	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AACCTGCACTCTGTATTCTGT	0.562000													44	382					0	0	0.000781405	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745953	77745953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:77745953C>T	ENST00000409088.3	-	3	1456	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	LRRTM4_ENST00000409093.1_Missense_Mutation_p.E348K|LRRTM4_ENST00000409911.1_Missense_Mutation_p.E349K|LRRTM4_ENST00000409282.1_Missense_Mutation_p.E349K|LRRTM4_ENST00000409884.1_Missense_Mutation_p.E348K	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	348	LRRCT.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTAACCTTTTCACCCTGGATG	0.433000													7	14					0	0	0.00198382	0	0
SPAG7	9552	broad.mit.edu	37	17	4863768	4863768	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:4863768G>A	ENST00000573366.1	-	3	933	c.75C>T	c.(73-75)atC>atT	p.I25I	SPAG7_ENST00000575142.1_Silent_p.I65I|SPAG7_ENST00000206020.3_Silent_p.I76I			O75391	SPAG7_HUMAN	sperm associated antigen 7	76						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TGCTCCTCTCGATCTTGTTCA	0.552000													205	10					0	0	0.000781405	0	0
SPAM1	6677	broad.mit.edu	37	7	123599999	123599999	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:123599999C>T	ENST00000439500.1	+	6	2119	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	SPAM1_ENST00000402183.2_Silent_p.I502I|SPAM1_ENST00000340011.5_Intron|SPAM1_ENST00000223028.7_Silent_p.I502I|SPAM1_ENST00000460182.1_Silent_p.I502I	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	502					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TGTTTCTTATCATTTCTTCTG	0.353000													20	72					0	0	0.000375601	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50188919	50188919	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:50188919C>T	ENST00000335999.6	-	8	2925	c.2724G>A	c.(2722-2724)gaG>gaA	p.E908E		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	904										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGTGCTTGACCTCGGCGCCAG	0.642000													15	25					0	0	0.000566183	0	0
C2orf53	339779	broad.mit.edu	37	2	27360020	27360020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:27360020G>A	ENST00000335524.3	-	3	1703	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	393								p.P393H(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCAGGGCAAGGCCTGGGCTT	0.582000													45	38					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9070567	9070567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9070567C>T	ENST00000397910.4	-	3	17082	c.16879G>A	c.(16879-16881)Gaa>Aaa	p.E5627K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5629	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						GAGCTGGTTTCTTCCACAGGG	0.532000													16	12					0	0	0.000422831	0	0
APOB	338	broad.mit.edu	37	2	21227980	21227980	+	Silent	SNP	G	G	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:21227980G>T	ENST00000233242.1	-	26	11887	c.11760C>A	c.(11758-11760)acC>acA	p.T3920T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3920					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGAACTGTACGGTTGAGCTGC	0.378000													9	432					0.000673444	0.00319079	0.000673444	1	0
OR1C1	26188	broad.mit.edu	37	1	247921190	247921190	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:247921190G>A	ENST00000408896.2	-	1	792	c.519C>T	c.(517-519)atC>atT	p.I173I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AATGATGGATGATATTGGAGG	0.473000													27	14					0	0	0.000720815	0	0
E2F7	144455	broad.mit.edu	37	12	77423987	77423987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:77423987G>A	ENST00000322886.7	-	10	1743	c.1508C>T	c.(1507-1509)tCt>tTt	p.S503F	E2F7_ENST00000416496.2_Missense_Mutation_p.S503F	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	503					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTGAGCAACAGAAAATACTGG	0.522000													53	77					0	0	0.000781405	0	0
IL36B	27177	broad.mit.edu	37	2	113786584	113786584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:113786584C>T	ENST00000259213.4	-	4	300	c.193G>A	c.(193-195)Gga>Aga	p.G65R	IL36B_ENST00000327407.2_Missense_Mutation_p.G65R	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	65					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						CCCTTGATTCCCAGGTAAACC	0.418000													45	50					0	0	0.000589545	0	0
SORCS2	57537	broad.mit.edu	37	4	7741963	7741963	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:7741963G>A	ENST00000507866.2	+	27	3561	c.3452G>A	c.(3451-3453)cGa>cAa	p.R1151Q	SORCS2_ENST00000329016.9_Missense_Mutation_p.R994Q	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	1151						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ATCAACTCCCGAGAGATGCAC	0.617000													8	6					0	0	0.000442599	0	0
MICALCL	84953	broad.mit.edu	37	11	12315811	12315811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:12315811G>A	ENST00000256186.2	+	3	1124	c.833G>A	c.(832-834)cGa>cAa	p.R278Q		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	278					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AATGCCATCCGAAGGTCTCTA	0.607000													34	21					0	0	0.000491102	0	0
BCL11B	64919	broad.mit.edu	37	14	99641447	99641447	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:99641447C>T	ENST00000345514.2	-	3	1779	c.1513G>A	c.(1513-1515)Gtc>Atc	p.V505I	BCL11B_ENST00000443726.2_Missense_Mutation_p.V382I|BCL11B_ENST00000357195.3_Missense_Mutation_p.V576I	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	576						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		gcgcccgggaccccgggcACC	0.716000			T	TLX3	T-ALL								7	12					0	0	0.000157383	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691087	39691087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:39691087G>A	ENST00000339852.4	+	5	672	c.650G>A	c.(649-651)cGa>cAa	p.R217Q		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	217	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GTGGCCCCCCGAACTTCTGGG	0.667000													38	44					0	0	0.000509022	0	0
SAP130	79595	broad.mit.edu	37	2	128774043	128774043	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:128774043G>A	ENST00000357702.5	-	4	636	c.505C>T	c.(505-507)Cca>Tca	p.P169S	SAP130_ENST00000259234.6_Missense_Mutation_p.P143S|SAP130_ENST00000259235.3_Missense_Mutation_p.P169S	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	169	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ACCTGCCCTGGAACCTTGGGG	0.527000													35	37					0	0	0.000953801	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939636	12939636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:12939636C>T	ENST00000235349.5	-	4	1236	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	389										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATGGGATTTCCACAGAAGCT	0.522000													222	29					0	0	0.000781405	0	0
CDH8	1006	broad.mit.edu	37	16	61854962	61854962	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:61854962C>T	ENST00000577390.1	-	6	1845	c.891G>A	c.(889-891)agG>agA	p.R297R	CDH8_ENST00000299345.6_Silent_p.R297R|CDH8_ENST00000584337.1_Silent_p.R297R|CDH8_ENST00000577730.1_Silent_p.R297R	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	297	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGCCTTCACCCTTCCTATTG	0.423000													23	21					0	0	0.000375601	0	0
MUC16	94025	broad.mit.edu	37	19	9075413	9075413	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9075413G>A	ENST00000397910.4	-	3	12236	c.12033C>T	c.(12031-12033)tcC>tcT	p.S4011S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4013	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTCAAGAAGGAATTAGGCT	0.478000													15	53					0	0	0.00074312	0	0
CSF2RB	1439	broad.mit.edu	37	22	37333949	37333949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:37333949G>A	ENST00000262825.5	+	14	2334	c.2117G>A	c.(2116-2118)gGg>gAg	p.G706E	CSF2RB_ENST00000536485.1_Missense_Mutation_p.G647E|CSF2RB_ENST00000403662.3_Missense_Mutation_p.G700E|CSF2RB_ENST00000406230.1_Missense_Mutation_p.G706E	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	700					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	ATGAGCTCTGGGGACACTGAG	0.617000													42	49					0	0	0.000509022	0	0
SLC5A3	6526	broad.mit.edu	37	21	35467678	35467678	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:35467678G>T	ENST00000381151.3	+	2	693	c.181G>T	c.(181-183)Ggg>Tgg	p.G61W	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	61						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GAGCAATATTGGGAGTGAGCA	0.502000													11	617					0.00185496	0.00877794	0.00185496	1	0
CD163	9332	broad.mit.edu	37	12	7639971	7639971	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:7639971G>A	ENST00000359156.4	-	8	2236	c.2034C>T	c.(2032-2034)gcC>gcT	p.A678A	CD163_ENST00000541972.1_Silent_p.A666A|CD163_ENST00000432237.2_Silent_p.A678A|CD163_ENST00000396620.3_Silent_p.A711A	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	678	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			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						AGATTACAGAGGCCACTTGCT	0.483000													12	16					0	0	0.00136819	0	0
DOCK3	1795	broad.mit.edu	37	3	51265502	51265502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:51265502G>A	ENST00000266037.9	+	17	1653	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	544	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGATATTCACGAGCTTTATGT	0.478000													32	0					0	0	0.00058488	0	0
OR4C3	256144	broad.mit.edu	37	11	48346987	48346987	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:48346987C>T	ENST00000319856.4	+	1	516	c.495C>T	c.(493-495)ctC>ctT	p.L165L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CCAGGCATCTCTGTGCCATGC	0.537000													19	63					0	0	0.00121646	0	0
CSMD3	114788	broad.mit.edu	37	8	113529379	113529379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:113529379C>T	ENST00000297405.5	-	28	4884	c.4640G>A	c.(4639-4641)gGg>gAg	p.G1547E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G1547E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1507E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1443E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1547	Sushi 8.					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						AACAGTGTCCCCAGGTTCTCT	0.478000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			30	45					0	0	0.00209593	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39427956	39427956	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:39427956C>T	ENST00000216099.7	+	6	1427	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S	APOBEC3D_ENST00000427494.2_Silent_p.S156S|APOBEC3D_ENST00000381568.4_Silent_p.S340S	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	340					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					AAGGGGCCTCCGTGAAGATCA	0.612000													55	46					0	0	0.000781405	0	0
KLK9	284366	broad.mit.edu	37	19	51509897	51509897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:51509897G>A	ENST00000376832.4	-	3	316	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	KLK9_ENST00000250366.6_Missense_Mutation_p.P95S|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000594211.1_Missense_Mutation_p.P95S	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	95	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CCAGGGTGGGGGAAGAAGTCC	0.602000													13	62					0	0	0.000219431	0	0
ABCB1	5243	broad.mit.edu	37	7	87175237	87175237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:87175237C>T	ENST00000265724.3	-	16	2246	c.1829G>A	c.(1828-1830)gGa>gAa	p.G610E	ABCB1_ENST00000543898.1_Missense_Mutation_p.G546E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	610	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			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)	ATCATGATTTCCTTTCTCCAC	0.398000													18	87					0	0	0.000566183	0	0
NOBOX	135935	broad.mit.edu	37	7	144098256	144098256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:144098256G>A	ENST00000467773.1	-	4	726	c.727C>T	c.(727-729)Cac>Tac	p.H243Y	NOBOX_ENST00000483238.1_Missense_Mutation_p.H243Y|NOBOX_ENST00000223140.5_Missense_Mutation_p.H158Y	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	243					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)					TTGGCCAGGTGGCAGGGCCCC	0.602000													21	7					0	0	0.00121646	0	0
POTEH	23784	broad.mit.edu	37	22	16266988	16266988	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:16266988C>T	ENST00000343518.6	-	9	1512	c.1461G>A	c.(1459-1461)agG>agA	p.R487R		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	487										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTCTGCTTTTCCTTGGTGGAA	0.433000													45	216					0	0	0.000781405	0	0
LSM14B	149986	broad.mit.edu	37	20	60701392	60701392	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:60701392C>T	ENST00000253001.4	+	3	530	c.324C>T	c.(322-324)ttC>ttT	p.F108F	LSM14B_ENST00000370915.1_Silent_p.F108F|LSM14B_ENST00000279068.6_Silent_p.F108F			Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	108					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCTCGCCCTTCCAGCCGCACG	0.672000													24	46					0	0	0.001512	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053780	95053780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:95053780G>A	ENST00000329597.7	+	3	291	c.81G>A	c.(79-81)atG>atA	p.M27I	SERPINA5_ENST00000554276.1_Missense_Mutation_p.M27I|SERPINA5_ENST00000554866.1_Missense_Mutation_p.M27I|SERPINA5_ENST00000553780.1_Missense_Mutation_p.M27I	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	27					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.M27I(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCCGGGAGATGAAGAAGAGAG	0.612000													29	58					0	0	0.00127121	0	0
HRNR	388697	broad.mit.edu	37	1	152187684	152187684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:152187684C>T	ENST00000368801.2	-	3	6496	c.6421G>A	c.(6421-6423)Gga>Aga	p.G2141R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2141					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATGACTGTCCTGATCTAGAG	0.587000													87	1173					0	0	0.000781405	0	0
ZNF671	79891	broad.mit.edu	37	19	58234583	58234583	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:58234583C>T	ENST00000317398.6	-	2	359	c.265_splice	c.e2+1	p.L88_splice	ZNF671_ENST00000596939.1_Intron|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_Intron|AC003006.7_ENST00000599221.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	88	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGACCTTACCCAGTGAGGCTA	0.468000													61	54					0	0	0.000781405	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278102	36278102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:36278102C>T	ENST00000007510.4	+	21	2779	c.2635C>T	c.(2635-2637)Ccc>Tcc	p.P879S	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P718S|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P743S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	879	Poly-Pro.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCCACCCCCTCCCCTGTCTCT	0.662000													24	16					0	0	0.000878237	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24942241	24942241	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:24942241G>A	ENST00000289968.6	-	19	2448	c.2379C>T	c.(2377-2379)acC>acT	p.T793T	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Silent_p.T715T	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	793	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GTCTCGGTAAGGTTCCAGCAT	0.632000													26	55					0	0	0.000720815	0	0
NEK4	6787	broad.mit.edu	37	3	52800230	52800230	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:52800230G>A	ENST00000233027.5	-	3	724	c.522C>T	c.(520-522)agC>agT	p.S174S	NEK4_ENST00000535191.1_Silent_p.S85S|NEK4_ENST00000383721.4_Silent_p.S174S	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	174	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		ACAATTCAGGGCTCATGTAGT	0.463000													22	4					0	0	0.00106085	0	0
KIFC2	90990	broad.mit.edu	37	8	145692696	145692696	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:145692696C>T	ENST00000301332.2	+	4	818	c.441C>T	c.(439-441)gcC>gcT	p.A147A		NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	147					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTCAGCCAGCCCCTCGGGTCC	0.622000											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	104	59					0	0	0.000781405	0	0
TESPA1	9840	broad.mit.edu	37	12	55356658	55356658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:55356658C>T	ENST00000524622.1	-	7	1271	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	TESPA1_ENST00000449076.1_Missense_Mutation_p.E342K|TESPA1_ENST00000531122.1_Missense_Mutation_p.E204K|TESPA1_ENST00000532804.1_Missense_Mutation_p.E204K|TESPA1_ENST00000316577.8_Missense_Mutation_p.E342K	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	342																	ACAGGATCTTCCTGTGAGAAT	0.488000													19	14					0	0	0.000958276	0	0
IAH1	285148	broad.mit.edu	37	2	9621462	9621462	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:9621462C>T	ENST00000497473.1	+	4	368	c.331C>T	c.(331-333)Cta>Tta	p.L111L	IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000470914.1_5'UTR|IAH1_ENST00000482918.1_5'UTR|IAH1_ENST00000545602.1_5'UTR	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	111					lipid catabolic process		hydrolase activity, acting on ester bonds			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CGCTGCGAACCTAAAGAGCAT	0.488000													30	20					0	0	0.00178596	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140763703	140763703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140763703G>A	ENST00000518325.1	+	1	1237	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGACCGGGAAACACTCTC	0.413000													5	13					0	0	0.00116845	0	0
SLC25A36	55186	broad.mit.edu	37	3	140695236	140695236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:140695236C>T	ENST00000446041.2	+	7	1099	c.874C>T	c.(874-876)Cca>Tca	p.P292S	SLC25A36_ENST00000453248.2_Missense_Mutation_p.P267S|SLC25A36_ENST00000324194.6_Missense_Mutation_p.P293S	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	293					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GAGACAGATTCCAAACACAGC	0.398000													46	49					0	0	0.000781405	0	0
BEST1	7439	broad.mit.edu	37	11	61727035	61727035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:61727035C>T	ENST00000526988.1	+	7	979	c.818C>T	c.(817-819)tCg>tTg	p.S273L	BEST1_ENST00000378042.3_Intron|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000378043.4_Silent_p.V311V|BEST1_ENST00000449131.2_Silent_p.V251V|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000301774.9_Intron			O76090	BEST1_HUMAN	bestrophin 1	0					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						ACTGGATTGTCGACAGGAATT	0.537000													24	16					0	0	0.00047179	0	0
TRAV7	28686	broad.mit.edu	37	14	22251480	22251480	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:22251480G>A	ENST00000390429.3	+	0	97																											TCATTTTCTGGGACCCCAGCA	0.453000													10	9					0	0	0.000673444	0	0
CHPF	79586	broad.mit.edu	37	2	220406679	220406679	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:220406679G>A	ENST00000243776.6	-	2	795	c.547C>T	c.(547-549)Cac>Tac	p.H183Y	CHPF_ENST00000373891.2_Missense_Mutation_p.H183Y|CHPF_ENST00000535926.1_Missense_Mutation_p.H21Y	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	183						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TCCAGCAGGTGGCGCAGCGCC	0.687000											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	15					0	0	0.00185496	0	0
HECTD4	283450	broad.mit.edu	37	12	112688077	112688077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:112688077G>A	ENST00000550722.1	-	25	3778	c.3383C>T	c.(3382-3384)cCc>cTc	p.P1128L	HECTD4_ENST00000430131.2_Missense_Mutation_p.P852L|HECTD4_ENST00000377560.5_Missense_Mutation_p.P1102L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GACATCAGAGGGGTAGGTGAA	0.547000													54	41					0	0	0.000781405	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189520	167189520	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:167189520G>A	ENST00000476257.1	-	3	401	c.103C>T	c.(103-105)Caa>Taa	p.Q35*	SERPINI2_ENST00000461846.1_Nonsense_Mutation_p.Q35*|SERPINI2_ENST00000471111.1_Nonsense_Mutation_p.Q35*|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000264677.4_Nonsense_Mutation_p.Q35*			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	35					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GAAACCTCTTGATAAAGATCC	0.393000													92	89					0	0	0.000781405	0	0
LILRA2	11027	broad.mit.edu	37	19	55086256	55086256	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:55086256G>A	ENST00000251377.3	+	5	544	c.411G>A	c.(409-411)ggG>ggA	p.G137G	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.G137G|LILRA2_ENST00000391737.1_Silent_p.G125G|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Silent_p.G137G|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTTAGGAGGGAACGTGACCC	0.557000													25	121					0	0	0.000586117	0	0
ADD2	119	broad.mit.edu	37	2	70933562	70933562	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:70933562C>T	ENST00000430656.1	-	2	324	c.27G>A	c.(25-27)gcG>gcA	p.A9A	ADD2_ENST00000413157.2_5'UTR|ADD2_ENST00000473232.1_5'UTR|ADD2_ENST00000355733.3_5'UTR|ADD2_ENST00000407644.2_5'UTR|ADD2_ENST00000264436.3_5'UTR	NM_001185055.1	NP_001171984.1	P35612	ADDB_HUMAN	adducin 2 (beta)	0					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GTTTGCAATTCGCTCCTGGAA	0.612000													52	45					0	0	0.000781405	0	0
ABCA3	21	broad.mit.edu	37	16	2331154	2331154	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:2331154G>A	ENST00000301732.5	-	28	4933	c.4233C>T	c.(4231-4233)tgC>tgT	p.C1411C	ABCA3_ENST00000382381.3_Silent_p.C1353C	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1411	ABC transporter 2.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GCAGGCCGAAGCACTCCCCTT	0.627000													16	41					0	0	0.000422831	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572680	38572680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:38572680C>T	ENST00000222345.6	+	3	984	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	159					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCCCGGTCCCCCGGCAGGGC	0.711000													22	21					0	0	0.000375601	0	0
CNGA3	1261	broad.mit.edu	37	2	99013442	99013442	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:99013442G>A	ENST00000393504.1	+	8	2226	c.1809G>A	c.(1807-1809)cgG>cgA	p.R603R	CNGA3_ENST00000409937.1_Silent_p.R607R|CNGA3_ENST00000436404.2_Silent_p.R585R|CNGA3_ENST00000272602.2_Silent_p.R603R	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	603					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						AGAAAGGACGGCAGATCCTGA	0.602000													18	15					0	0	0.00074312	0	0
DSG4	147409	broad.mit.edu	37	18	28972276	28972276	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:28972276C>T	ENST00000359747.4	+	8	1007	c.978C>T	c.(976-978)acC>acT	p.T326T	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.T326T|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	326	Cadherin 3.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATCCACAAACCAATGAAGGCA	0.333000													17	27					0	0	0.00152264	0	0
LEPR	3953	broad.mit.edu	37	1	66081851	66081851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:66081851C>T	ENST00000349533.6	+	15	2341	c.2156C>T	c.(2155-2157)tCa>tTa	p.S719L	LEPR_ENST00000371058.1_Missense_Mutation_p.S719L|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.S719L|LEPR_ENST00000344610.8_Missense_Mutation_p.S719L|LEPR_ENST00000371060.3_Missense_Mutation_p.S719L	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	719	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCCATCAATTCAATTGGTGCT	0.403000													8	46					0	0	0.000442599	0	0
UMOD	7369	broad.mit.edu	37	16	20355394	20355394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:20355394G>A	ENST00000396134.2	-	7	1505	c.1382C>T	c.(1381-1383)cCc>cTc	p.P461L	UMOD_ENST00000570689.1_Missense_Mutation_p.P428L|UMOD_ENST00000424589.1_Missense_Mutation_p.P461L|UMOD_ENST00000396138.4_Missense_Mutation_p.P477L|UMOD_ENST00000396142.2_Missense_Mutation_p.P428L|UMOD_ENST00000302509.4_Missense_Mutation_p.P428L	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	428	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CATGTCCAGGGGGTAGGAGCA	0.532000													20	34					0	0	0.00152264	0	0
ABCA4	24	broad.mit.edu	37	1	94476459	94476459	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:94476459G>A	ENST00000370225.3	-	40	5697	c.5611C>T	c.(5611-5613)Cac>Tac	p.H1871Y	ABCA4_ENST00000535881.1_5'UTR|ABCA4_ENST00000536513.1_Missense_Mutation_p.H141Y|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1871					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGGTCCCAGTGGAACGGATTT	0.597000													43	30					0	0	0.000781405	0	0
PRSS37	136242	broad.mit.edu	37	7	141536973	141536973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141536973C>T	ENST00000350549.3	-	4	877	c.506G>A	c.(505-507)gGa>gAa	p.G169E	PRSS37_ENST00000438520.1_Missense_Mutation_p.G169E	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	169	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GTGGCTTTTTCCTTGTTCTGT	0.433000													23	115					0	0	0.000375601	0	0
C11orf80	79703	broad.mit.edu	37	11	66571646	66571646	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:66571646G>A	ENST00000360962.4	+	9	1030	c.1023G>A	c.(1021-1023)agG>agA	p.R341R	C11orf80_ENST00000525449.2_Silent_p.R186R|C11orf80_ENST00000527634.1_Silent_p.R123R|C11orf80_ENST00000540737.1_Silent_p.R176R|C11orf80_ENST00000532565.2_Silent_p.R122R|C11orf80_ENST00000346672.4_Silent_p.R187R	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	186										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						AGCTTAACAGGATTTCTTCAG	0.428000													17	21					0	0	0.000422831	0	0
ITPR1	3708	broad.mit.edu	37	3	4744524	4744524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:4744524C>T	ENST00000354582.6	+	36	4897	c.4547C>T	c.(4546-4548)cCt>cTt	p.P1516L	ITPR1_ENST00000443694.2_Missense_Mutation_p.P1501L|ITPR1_ENST00000302640.8_Missense_Mutation_p.P1501L|ITPR1_ENST00000423119.2_Missense_Mutation_p.P1507L|ITPR1_ENST00000357086.4_Missense_Mutation_p.P1507L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.P1492L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1516					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACTCGCCAGCCTGTCTTTGTG	0.473000													8	19					0	0	0.000157383	0	0
PDE2A	5138	broad.mit.edu	37	11	72300278	72300278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:72300278C>T	ENST00000334456.5	-	12	1125	c.880G>A	c.(880-882)Gga>Aga	p.G294R	PDE2A_ENST00000444035.2_Missense_Mutation_p.G285R|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000544570.1_Missense_Mutation_p.G287R|PDE2A_ENST00000540345.1_Missense_Mutation_p.G285R|PDE2A_ENST00000418754.2_Missense_Mutation_p.G179R	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	294	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCCAGGCATCCTGTCAACTAG	0.572000													45	131					0	0	0.000781405	0	0
SOGA1	140710	broad.mit.edu	37	20	35444643	35444643	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:35444643T>G	ENST00000237536.4	-	5	1543	c.1202A>C	c.(1201-1203)aAg>aCg	p.K401T	SOGA1_ENST00000357779.3_Missense_Mutation_p.K163T|SOGA1_ENST00000279034.5_Missense_Mutation_p.K163T|SOGA1_ENST00000456801.2_Missense_Mutation_p.K4T	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	163										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CTTAGTGAGCTTCTTGCACAT	0.567000													90	66					0	0	0.000781405	0	0
GK2	2712	broad.mit.edu	37	4	80329126	80329126	+	Missense_Mutation	SNP	C	C	T	rs149134428		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:80329126C>T	ENST00000358842.3	-	1	246	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	77					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ATATTCAGTTCGTCAAGTTTC	0.418000													33	36					0	0	0.0024448	0	0
KMT2D	8085	broad.mit.edu	37	12	49440416	49440416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:49440416G>A	ENST00000301067.7	-	15	4393	c.4394C>T	c.(4393-4395)cCc>cTc	p.P1465L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCCGCCCTTGGGGACGGTGAG	0.562000													96	101					0	0	0.000781405	0	0
NUP133	55746	broad.mit.edu	37	1	229606485	229606485	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:229606485G>C	ENST00000261396.3	-	15	2009	c.1918C>G	c.(1918-1920)Ctc>Gtc	p.L640V	NUP133_ENST00000366679.1_Missense_Mutation_p.L640V|NUP133_ENST00000537506.1_Missense_Mutation_p.L624V	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	640					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TGCTCACAGAGCAACAGTCGA	0.483000													14	53					0	0	0.000566183	0	0
KLK9	284366	broad.mit.edu	37	19	51509898	51509898	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:51509898G>A	ENST00000376832.4	-	3	315	c.282C>T	c.(280-282)ttC>ttT	p.F94F	KLK9_ENST00000250366.6_Silent_p.F94F|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000594211.1_Silent_p.F94F	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	94	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CAGGGTGGGGGAAGAAGTCCG	0.607000													13	60					0	0	0.000219431	0	0
NTF3	4908	broad.mit.edu	37	12	5604142	5604142	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:5604142C>T	ENST00000423158.3	+	2	1013	c.801C>T	c.(799-801)atC>atT	p.I267I	NTF3_ENST00000331010.6_Silent_p.I254I|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	254					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CGAGAAAAATCGGAAGAACAT	0.368000													6	19					0	0	0.00116845	0	0
ANO4	121601	broad.mit.edu	37	12	101413856	101413856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:101413856G>A	ENST00000392979.3	+	8	1035	c.674G>A	c.(673-675)aGa>aAa	p.R225K	ANO4_ENST00000392977.3_Missense_Mutation_p.R260K|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	260						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AATGCCACAAGAAGTAGAATC	0.308000										HNSCC(74;0.22)			49	42					0	0	0.000781405	0	0
COL6A5	256076	broad.mit.edu	37	3	130188260	130188260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:130188260G>A	ENST00000265379.6	+	38	7906	c.7412G>A	c.(7411-7413)cGa>cAa	p.R2471Q	COL6A5_ENST00000432398.2_Missense_Mutation_p.R2471Q			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2471	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CAACTTGGCCGAACCCACAAG	0.393000													31	21					0	0	0.0024448	0	0
NELL1	4745	broad.mit.edu	37	11	20805360	20805360	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:20805360C>T	ENST00000298925.5	+	4	556	c.403C>T	c.(403-405)Cga>Tga	p.R135*	NELL1_ENST00000325319.5_Nonsense_Mutation_p.R107*|NELL1_ENST00000532434.1_Nonsense_Mutation_p.R107*|NELL1_ENST00000357134.5_Nonsense_Mutation_p.R107*			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	107	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.R107*(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACTGTCCATTCGAGAACTGGA	0.418000													42	22					0	0	0.00222228	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650500	94650500	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:94650500C>T	ENST00000260526.6	-	18	2219	c.2037G>A	c.(2035-2037)aaG>aaA	p.K679K	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	679	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CATCTGGTTCCTTTTTTGCAA	0.318000													19	74					0	0	0.000958276	0	0
AC010731.4	0	broad.mit.edu	37	2	207509180	207509180	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:207509180G>A	ENST00000543490.1	+	0	395																											AGGCTTCTGGGATTTTATGAT	0.493000													16	12					0	0	0.000422831	0	0
KCNRG	283518	broad.mit.edu	37	13	50589959	50589959	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:50589959G>A	ENST00000360473.4	+	1	570	c.330G>A	c.(328-330)gtG>gtA	p.V110V	TRIM13_ENST00000378182.3_3'UTR|TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000312942.1_Silent_p.V110V	NM_199464.2	NP_955751.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	110						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CTGCTCTTGTGGAGGTACATT	0.438000													75	56					0	0	0.000781405	0	0
RERE	473	broad.mit.edu	37	1	8425888	8425888	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:8425888G>A	ENST00000337907.3	-	14	2065	c.1431C>T	c.(1429-1431)ccC>ccT	p.P477P	RERE_ENST00000400908.2_Silent_p.P477P|RERE_ENST00000400907.2_Silent_p.P477P|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000377464.1_Silent_p.P209P	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	477					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CACTGGACGGGGGTCTGGAGG	0.637000													54	2					0	0	0.000781405	0	0
ATP2C2	9914	broad.mit.edu	37	16	84456106	84456106	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:84456106C>T	ENST00000416219.2	+	8	824	c.735C>T	c.(733-735)atC>atT	p.I245I	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.I245I			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	245					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TCAGCAACATCGTCTTCATGG	0.602000													45	24					0	0	0.000680045	0	0
OR1L4	254973	broad.mit.edu	37	9	125486328	125486328	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:125486328C>T	ENST00000259466.1	+	1	60	c.60C>T	c.(58-60)tcC>tcT	p.S20S		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						GCCTCTCTTCCAACCCTAAGC	0.507000													5	95					0	0	0.000978159	0	0
DNAH8	1769	broad.mit.edu	37	6	38813486	38813486	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:38813486C>A	ENST00000359357.3	+	34	4585	c.4331C>A	c.(4330-4332)tCg>tAg	p.S1444*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.S1661*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.S1444*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGAACCGAATCGGGAGAAATT	0.398000													5	85					0.00198382	0.00936454	0.00198382	1	0
TRDV1	28518	broad.mit.edu	37	14	22564750	22564750	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:22564750C>T	ENST00000390452.2	+	0	219																											AGATGATTTTCCTTATTCGCC	0.428000													48	28					0	0	0.000781405	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49667799	49667799	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:49667799A>T	ENST00000249601.4	-	5	883	c.587T>A	c.(586-588)aTg>aAg	p.M196K	ARHGAP22_ENST00000417247.2_Missense_Mutation_p.M106K|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.M212K|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.M87K|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.M106K|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.M202K	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	196	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGGCCTGGCATGCGGAACAG	0.642000													66	45					0	0	0.000781405	0	0
MROH5	389690	broad.mit.edu	37	8	142505528	142505528	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:142505528C>T	ENST00000430863.1	-	0	398					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		TGATGATGTACTTCAAGTGGA	0.522000													49	87					0	0	0.000781405	0	0
OR56B4	196335	broad.mit.edu	37	11	6129374	6129374	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:6129374C>T	ENST00000316529.3	+	1	461	c.366C>T	c.(364-366)ctC>ctT	p.L122L	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATCTTTCTCTGCATGGCAG	0.483000													31	40					0	0	0.00058488	0	0
GABRB2	2561	broad.mit.edu	37	5	160721436	160721436	+	Splice_Site	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:160721436C>A	ENST00000274547.2	-	11	1409		c.e11-1		GABRB2_ENST00000517901.1_Splice_Site|GABRB2_ENST00000353437.6_Splice_Site|GABRB2_ENST00000393959.1_Splice_Site|GABRB2_ENST00000517547.1_Splice_Site|GABRB2_ENST00000520240.1_Splice_Site	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGGGGTCCATCTGCAAGGGAA	0.448000													33	17					9.04072e-19	4.35733e-18	0.00058488	1	0
ADCY1	107	broad.mit.edu	37	7	45743207	45743207	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:45743207C>T	ENST00000297323.7	+	16	2602	c.2580C>T	c.(2578-2580)taC>taT	p.Y860Y		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	860					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AGGACCTCTACTACCAGTCCT	0.582000													31	36					0	0	0.00178596	0	0
STAB2	55576	broad.mit.edu	37	12	104048373	104048373	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:104048373A>T	ENST00000388887.2	+	13	1652	c.1448A>T	c.(1447-1449)aAg>aTg	p.K483M		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	483	FAS1 1.				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						GGCAAAAAGAAGGTAAAAATT	0.393000													32	19					0	0	0.000692331	0	0
ZNF341	84905	broad.mit.edu	37	20	32349802	32349802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:32349802C>T	ENST00000375200.1	+	8	1528	c.1163C>T	c.(1162-1164)tCt>tTt	p.S388F	ZNF341_ENST00000342427.2_Missense_Mutation_p.S381F			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TCTCGAAACTCTGTGACCGTA	0.572000													59	153					0	0	0.000781405	0	0
CENPF	1063	broad.mit.edu	37	1	214816005	214816005	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:214816005T>A	ENST00000366955.3	+	12	4492	c.4324T>A	c.(4324-4326)Tta>Ata	p.L1442I		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1538	2 X 96 AA approximate tandem repeats.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGTTGACTCATTAAAGGCCGA	0.423000													25	13					0	0	0.000586117	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181252	19181252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:19181252C>T	ENST00000375371.3	-	3	733	c.712G>A	c.(712-714)Gag>Aag	p.E238K	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	238					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGCAGCGTCTCCTGGAAGGCG	0.642000													16	13					0	0	0.000422831	0	0
CAPN6	827	broad.mit.edu	37	X	110507123	110507123	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:110507123C>T	ENST00000324068.1	-	2	209	c.42G>A	c.(40-42)caG>caA	p.Q14Q		NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	14					microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GCTTCAGTTCCTGGTATTTCT	0.408000													35	6					0	0	0.000953801	0	0
ATG7	10533	broad.mit.edu	37	3	11350518	11350518	+	Missense_Mutation	SNP	C	C	T	rs143294564		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:11350518C>T	ENST00000354449.3	+	5	419	c.394C>T	c.(394-396)Ctc>Ttc	p.L132F	ATG7_ENST00000354956.5_Missense_Mutation_p.L132F|ATG7_ENST00000446450.2_Missense_Mutation_p.L132F	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	132					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CAACAAGTTCCTCCTCTTGAC	0.473000													58	47					0	0	0.000781405	0	0
SCAF1	58506	broad.mit.edu	37	19	50156105	50156105	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:50156105C>T	ENST00000360565.3	+	7	2583	c.2459C>T	c.(2458-2460)tCa>tTa	p.S820L		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	820	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TCAGGCTCTTCATCCTCGTCG	0.657000													8	39					0	0	0.000442599	0	0
DDX42	11325	broad.mit.edu	37	17	61886219	61886219	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:61886219C>G	ENST00000578681.1	+	11	1664	c.1063C>G	c.(1063-1065)Ctt>Gtt	p.L355V	DDX42_ENST00000359353.5_Missense_Mutation_p.L236V|DDX42_ENST00000457800.2_Missense_Mutation_p.L355V|DDX42_ENST00000389924.2_Missense_Mutation_p.L355V|DDX42_ENST00000583590.1_Missense_Mutation_p.L355V	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	355	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AGCATATAATCTTCGATCAGT	0.453000													40	58					0	0	0.00195071	0	0
RUNX1T1	862	broad.mit.edu	37	8	93029550	93029550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:93029550C>T	ENST00000523629.1	-	3	584	c.130G>A	c.(130-132)Gat>Aat	p.D44N	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D17N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D7N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D55N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D17N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D44N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D7N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D7N|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.D7N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	44					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTCTTCACATCCACAGGTGAG	0.473000													31	30					0	0	0.0024448	0	0
OR10V1	390201	broad.mit.edu	37	11	59480591	59480591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:59480591G>A	ENST00000307552.2	-	1	746	c.728C>T	c.(727-729)tCt>tTt	p.S243F		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						GATGTGAGAAGAGCAGGTAGA	0.527000													15	26					0	0	0.000422831	0	0
ZNF304	57343	broad.mit.edu	37	19	57867617	57867617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:57867617C>T	ENST00000391705.3	+	4	664	c.380C>T	c.(379-381)tCg>tTg	p.S127L	ZNF304_ENST00000282286.5_Missense_Mutation_p.S127L|ZNF304_ENST00000598744.1_Missense_Mutation_p.S85L|ZNF304_ENST00000443917.2_Missense_Mutation_p.S174L	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AGAAGATTCTCGTTCAGTGCA	0.483000													13	57					0	0	0.00185496	0	0
KIF4B	285643	broad.mit.edu	37	5	154396321	154396321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:154396321G>A	ENST00000435029.4	+	1	3062	c.2902G>A	c.(2902-2904)Gaa>Aaa	p.E968K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	968	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)			GTGTCAGGATGAAGAACTTGA	0.478000													24	38					0	0	0.00127121	0	0
SHANK1	50944	broad.mit.edu	37	19	51218985	51218985	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:51218985G>A	ENST00000293441.1	-	3	480	c.462C>T	c.(460-462)ttC>ttT	p.F154F	SHANK1_ENST00000359082.3_Silent_p.F154F|SHANK1_ENST00000391814.1_Silent_p.F154F	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	154					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCTTGTATCGGAACTGAGGTC	0.532000													35	171					0	0	0.00195071	0	0
GRIA4	2893	broad.mit.edu	37	11	105789611	105789611	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:105789611C>T	ENST00000393127.2	+	11	1889	c.1443C>T	c.(1441-1443)atC>atT	p.I481I	GRIA4_ENST00000530497.1_Silent_p.I481I|GRIA4_ENST00000525187.1_Silent_p.I481I|GRIA4_ENST00000282499.5_Silent_p.I481I	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	481					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ACACAAAAATCTGGAATGGGA	0.368000													20	2					0	0	0.000375601	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716388	13716388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:13716388C>T	ENST00000279593.3	-	13	3993	c.3784G>A	c.(3784-3786)Gaa>Aaa	p.E1262K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1262					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGTCCAGTTCCTGCAGGGAG	0.597000													15	44					0	0	0.000308642	0	0
LAMA5	3911	broad.mit.edu	37	20	60887273	60887273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:60887273G>A	ENST00000252999.3	-	69	9526	c.9460C>T	c.(9460-9462)Cac>Tac	p.H3154Y		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3154	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGGCGCTGTGGAAGCCGAAG	0.682000													23	23					0	0	0.000720815	0	0
INTS12	57117	broad.mit.edu	37	4	106614568	106614568	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:106614568G>A	ENST00000451321.2	-	4	864	c.385C>T	c.(385-387)Ccc>Tcc	p.P129S	INTS12_ENST00000394735.1_Missense_Mutation_p.P129S|INTS12_ENST00000340139.5_Missense_Mutation_p.P129S	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	129					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		ACAGTAATGGGAGATGACTGT	0.418000													73	99					0	0	0.000781405	0	0
CLPTM1	1209	broad.mit.edu	37	19	45495627	45495627	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:45495627C>T	ENST00000541297.2	+	13	2115	c.1650C>T	c.(1648-1650)ccC>ccT	p.P550P	CLPTM1_ENST00000546079.1_Silent_p.P462P|CLPTM1_ENST00000337392.5_Silent_p.P564P			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	564					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		p.P564P(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCAAGATGCCCGTTATGTACC	0.622000													130	149					0	0	0.000781405	0	0
CDKAL1	54901	broad.mit.edu	37	6	20781395	20781395	+	Silent	SNP	G	G	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:20781395G>T	ENST00000274695.4	+	8	704	c.537G>T	c.(535-537)ctG>ctT	p.L179L	CDKAL1_ENST00000378610.1_Silent_p.L179L|RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000378624.4_Silent_p.L109L	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	179					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TGAGACTGCTGGGTCAGAAAA	0.408000													10	497					0.00136819	0.00647985	0.00136819	1	0
ZNF711	7552	broad.mit.edu	37	X	84526436	84526436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:84526436C>T	ENST00000360700.4	+	10	2912	c.2026C>T	c.(2026-2028)Cgt>Tgt	p.R676C	ZNF711_ENST00000542798.1_Missense_Mutation_p.R472C|ZNF711_ENST00000395402.1_Missense_Mutation_p.R638C|ZNF711_ENST00000373165.3_Missense_Mutation_p.R630C|ZNF711_ENST00000276123.3_Missense_Mutation_p.R630C			Q9Y462	ZN711_HUMAN	zinc finger protein 711	630					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AGGTTTTCATCGTCCTTCTGA	0.403000													11	0					0	0	0.000978159	0	0
SGCA	6442	broad.mit.edu	37	17	48244740	48244740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:48244740G>A	ENST00000262018.3	+	2	85	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	SGCA_ENST00000513942.1_Intron|SGCA_ENST00000344627.6_Missense_Mutation_p.G17R|SGCA_ENST00000451235.2_5'UTR|SGCA_ENST00000543315.1_Missense_Mutation_p.G17R	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	17					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						TCTCCTGGCAGGGCTGGGGGA	0.617000													23	30					0	0	0.000586117	0	0
TRPM2	7226	broad.mit.edu	37	21	45821720	45821720	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:45821720C>T	ENST00000397928.1	+	16	2923	c.2478C>T	c.(2476-2478)tcC>tcT	p.S826S	TRPM2_ENST00000397932.2_Silent_p.S826S|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.S806S|TRPM2_ENST00000300482.5_Silent_p.S826S	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	826						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTGTGCCCTCCTGGTGCGAGT	0.637000													132	180					0	0	0.000781405	0	0
TPRG1	285386	broad.mit.edu	37	3	188933083	188933083	+	Silent	SNP	G	G	A	rs141310543		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:188933083G>A	ENST00000345063.3	+	3	380	c.213G>A	c.(211-213)ccG>ccA	p.P71P	TPRG1_ENST00000433971.1_Silent_p.P71P	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	71										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CCACACAGCCGGGGGCCATTG	0.488000													32	51					0	0	0.00058488	0	0
ALPK2	115701	broad.mit.edu	37	18	56203768	56203768	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:56203768G>A	ENST00000361673.3	-	5	3864	c.3651C>T	c.(3649-3651)atC>atT	p.I1217I	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1217				I -> T (in Ref. 4; BAC03812).			ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTCCAAAAGGATATCAGAGA	0.512000													90	98					0	0	0.000781405	0	0
ATG9A	79065	broad.mit.edu	37	2	220089007	220089007	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:220089007G>A	ENST00000409618.1	-	8	1525	c.1086C>T	c.(1084-1086)tcC>tcT	p.S362S	ATG9A_ENST00000396761.2_Silent_p.S362S|ATG9A_ENST00000409422.1_Silent_p.S301S|ATG9A_ENST00000361242.4_Silent_p.S362S			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	362					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATGTACTTGGAGGCGGGCT	0.577000													37	80					0	0	0.000814825	0	0
SCN5A	6331	broad.mit.edu	37	3	38622601	38622601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:38622601C>T	ENST00000413689.1	-	17	3242	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K	SCN5A_ENST00000423572.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E1017K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E1017K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E1017K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E1017K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1017					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGCACCTTCTCCGTCTCTGGG	0.697000													19	9					0	0	0.000958276	0	0
ARID3A	1820	broad.mit.edu	37	19	929675	929675	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:929675C>T	ENST00000263620.3	+	2	474	c.147C>T	c.(145-147)ccC>ccT	p.P49P		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	49						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGAGAGCCCGAGAGTGCCC	0.776000													5	3					0	0	0.00116845	0	0
SLC16A14	151473	broad.mit.edu	37	2	230902218	230902218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:230902218C>T	ENST00000295190.4	-	5	1869	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	471						integral to membrane|plasma membrane	symporter activity	p.D471N(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AAGGAAAAATCATATTTTTGC	0.333000													25	34					0	0	0.000878237	0	0
TTN	7273	broad.mit.edu	37	2	179648923	179648923	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:179648923G>A	ENST00000589042.1	-	16	2873	c.2649C>T	c.(2647-2649)ttC>ttT	p.F883F	TTN_ENST00000342175.6_Silent_p.F837F|TTN_ENST00000342992.6_Silent_p.F883F|TTN_ENST00000359218.5_Silent_p.F837F|TTN_ENST00000460472.2_Silent_p.F837F|TTN_ENST00000591111.1_Silent_p.F883F|TTN_ENST00000360870.5_Silent_p.F883F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	883							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)			GTGTGTCAGCGAAGGGGAACT	0.537000													46	58					0	0	0.000781405	0	0
ZDHHC7	55625	broad.mit.edu	37	16	85010782	85010782	+	Silent	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:85010782C>A	ENST00000313732.4	-	7	1021	c.669G>T	c.(667-669)ctG>ctT	p.L223L	ZDHHC7_ENST00000564466.1_Silent_p.L260L|ZDHHC7_ENST00000569488.1_5'UTR	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	223						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						CCTCAAGGCACAGGAAGATCA	0.468000													28	53					1.39806e-14	6.72404e-14	0.001512	1	0
USH2A	7399	broad.mit.edu	37	1	216061780	216061780	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:216061780G>A	ENST00000366943.2	-	41	8597	c.8211C>T	c.(8209-8211)ccC>ccT	p.P2737P	USH2A_ENST00000307340.3_Silent_p.P2737P|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2737	Fibronectin type-III 14.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGACTGCATCGGGTTCCAGCA	0.507000										HNSCC(13;0.011)			15	43					0	0	0.00074312	0	0
MPO	4353	broad.mit.edu	37	17	56355300	56355300	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:56355300G>A	ENST00000340482.3	-	6	1364	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	MPO_ENST00000225275.3_Silent_p.A364A|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	364					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GCTGGTTGACGGCCAGCAGCC	0.652000													14	35					0	0	0.00185496	0	0
SULT1A1	6817	broad.mit.edu	37	16	28618163	28618163	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:28618163G>A	ENST00000395609.1	-	8	1271	c.513C>T	c.(511-513)tcC>tcT	p.S171S	SULT1A1_ENST00000569554.1_Silent_p.S171S|SULT1A1_ENST00000350842.4_Silent_p.S93S|SULT1A1_ENST00000395607.1_Silent_p.S171S|SULT1A1_ENST00000314752.7_Silent_p.S171S			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	171					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GCTGGTACCAGGATCCGTAGG	0.582000													27	95					0	0	0.00058488	0	0
KIF26A	26153	broad.mit.edu	37	14	104643572	104643572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:104643572G>A	ENST00000315264.7	+	11	4408	c.4030G>A	c.(4030-4032)Ggc>Agc	p.G1344S	KIF26A_ENST00000423312.2_Missense_Mutation_p.G1483S			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1483					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTGTAGGAGCGGCGCAGCCAA	0.726000													12	8					0	0	0.000219431	0	0
LRP5L	91355	broad.mit.edu	37	22	25753393	25753393	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:25753393G>A	ENST00000444995.3	-	5	967	c.266_splice	c.e5-1	p.G89_splice	LRP5L_ENST00000402859.2_Splice_Site_p.G89_splice|LRP5L_ENST00000402785.2_Splice_Site_p.G89_splice			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	89										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						AGTACGTGAGGCTGGAGAAGA	0.602000													24	56					0	0	0.00106085	0	0
RIMS2	9699	broad.mit.edu	37	8	104897612	104897612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:104897612C>T	ENST00000507740.1	+	2	445	c.209C>T	c.(208-210)tCg>tTg	p.S70L	RIMS2_ENST00000436393.2_Missense_Mutation_p.S40L|RIMS2_ENST00000406091.3_Missense_Mutation_p.S262L|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Missense_Mutation_p.S70L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	293	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TATGCTACTTCGGATACCGCA	0.408000										HNSCC(12;0.0054)			21	32					0	0	0.00152264	0	0
PAPPA2	60676	broad.mit.edu	37	1	176740314	176740314	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:176740314G>A	ENST00000367662.3	+	17	5877	c.4713G>A	c.(4711-4713)agG>agA	p.R1571R		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1571	Sushi 3.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTAAAGTCAGGAAGTAAGTTG	0.458000													12	17					0	0	0.00136819	0	0
C6orf10	10665	broad.mit.edu	37	6	32261633	32261633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:32261633C>T	ENST00000375015.4	-	26	1014	c.814G>A	c.(814-816)Gag>Aag	p.E272K	C6orf10_ENST00000447241.2_Missense_Mutation_p.E273K|C6orf10_ENST00000375007.4_Missense_Mutation_p.E271K|C6orf10_ENST00000533191.1_Missense_Mutation_p.E271K|C6orf10_ENST00000442822.2_Missense_Mutation_p.E264K|C6orf10_ENST00000527965.1_Missense_Mutation_p.E257K			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	273						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CTTTCTGGCTCCTTTATGTGT	0.398000													96	102					0	0	0.000781405	0	0
ROR2	4920	broad.mit.edu	37	9	94499762	94499762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:94499762C>T	ENST00000375708.3	-	5	731	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.R38Q	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	178	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGCAATTCCCCGGTAAGGCTG	0.532000													35	5					0	0	0.00148497	0	0
ARSF	416	broad.mit.edu	37	X	3030285	3030285	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:3030285C>T	ENST00000381127.1	+	11	1682	c.1461C>T	c.(1459-1461)gtC>gtT	p.V487V	ARSF_ENST00000359361.2_Silent_p.V487V|ARSF_ENST00000537104.1_Silent_p.V487V	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	487						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCTGCTATGTCACCTCATTAT	0.542000													43	3					0	0	0.000781405	0	0
MIP	4284	broad.mit.edu	37	12	56848172	56848172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:56848172G>A	ENST00000257979.4	-	1	254	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	76					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GAGCCCACAAGGAAAGCAAAA	0.602000													23	22					0	0	0.000375601	0	0
ULK2	9706	broad.mit.edu	37	17	19680995	19680995	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:19680995T>G	ENST00000395544.4	-	26	3450	c.2951A>C	c.(2950-2952)cAg>cCg	p.Q984P	ULK2_ENST00000361658.2_Missense_Mutation_p.Q984P	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	984					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					ATCTTCGGTCTGCTGAAACAT	0.408000													13	4					0	0	0.00185496	0	0
CCNA1	8900	broad.mit.edu	37	13	37014123	37014123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:37014123G>A	ENST00000418263.1	+	6	1248	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	CCNA1_ENST00000449823.1_Missense_Mutation_p.E257K|CCNA1_ENST00000255465.4_Missense_Mutation_p.E301K|CCNA1_ENST00000440264.1_Missense_Mutation_p.E257K	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	301					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CAGGAAATATGAAGAGATATA	0.418000													17	12					0	0	0.00074312	0	0
PIDD	55367	broad.mit.edu	37	11	804257	804257	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:804257G>A	ENST00000347755.5	-	2	273	c.132C>T	c.(130-132)ccC>ccT	p.P44P	PIDD_ENST00000411829.2_Silent_p.P44P|PIDD_ENST00000534649.1_5'UTR	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	44					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GGCAGCCCCCGGGGTACAGGT	0.652000													4	14					0	0	0.000602214	0	0
CCR4	1233	broad.mit.edu	37	3	32995250	32995250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:32995250G>A	ENST00000330953.5	+	2	504	c.336G>A	c.(334-336)atG>atA	p.M112I		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	112					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGTGCAAGATGATTTCCTGGA	0.478000													136	82					0	0	0.000781405	0	0
OR5D18	219438	broad.mit.edu	37	11	55587893	55587893	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:55587893C>A	ENST00000333976.4	+	1	808	c.788C>A	c.(787-789)cCc>cAc	p.P263H		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TACTGTGTGCCCAACTCCAAA	0.522000													19	54					1.78486e-19	8.6097e-19	0.000958276	1	0
TMEM178A	130733	broad.mit.edu	37	2	39944248	39944248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:39944248G>A	ENST00000281961.2	+	4	807	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2			transmembrane protein 178A																		TGCTGATGTGGAACATGGTTA	0.483000													58	118					0	0	0.000781405	0	0
ZG16B	124220	broad.mit.edu	37	16	2881806	2881806	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:2881806G>A	ENST00000382280.3	+	4	352	c.273G>A	c.(271-273)gtG>gtA	p.V91V	ZG16B_ENST00000572863.1_Silent_p.V61V	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	91						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						GTGTCCAGGTGAAACTTGGAG	0.582000													31	30					0	0	0.00178596	0	0
EGFR	1956	broad.mit.edu	37	7	55266528	55266528	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:55266528C>T	ENST00000275493.2	+	23	2997	c.2820C>T	c.(2818-2820)acC>acT	p.T940T	EGFR_ENST00000455089.1_Silent_p.T895T|EGFR_ENST00000454757.2_Silent_p.T887T|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	940	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCATATGTACCATCGATGTCT	0.537000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			31	31					0	0	0.00209593	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18633904	18633904	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:18633904T>G	ENST00000336349.5	-	4	2078	c.1843A>C	c.(1843-1845)Ata>Cta	p.I615L		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	615										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGCTTGGATATTTCTTCCTGA	0.338000													51	34					0	0	0.000781405	0	0
GPR123	84435	broad.mit.edu	37	10	134942980	134942980	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:134942980C>T	ENST00000607359.1	+	16	3805	c.3805C>T	c.(3805-3807)Cga>Tga	p.R1269*	GPR123_ENST00000392606.2_Nonsense_Mutation_p.R453*|GPR123_ENST00000392607.3_Nonsense_Mutation_p.R550*			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	550						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CGGCAACATCCGAACGGGACC	0.612000													12	1					0	0	0.000219431	0	0
HERC1	8925	broad.mit.edu	37	15	64046743	64046743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:64046743C>T	ENST00000443617.2	-	7	1822	c.1735G>A	c.(1735-1737)Gat>Aat	p.D579N		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	579					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTTCTCCCATCTTTAGACAGA	0.348000													30	42					0	0	0.0024448	0	0
PARP12	64761	broad.mit.edu	37	7	139724499	139724499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:139724499G>A	ENST00000263549.3	-	12	2840	c.1967C>T	c.(1966-1968)tCc>tTc	p.S656F		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	656	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GGAGGGGTCGGACACACTGTT	0.577000													14	110					0	0	0.000422831	0	0
MAN2A1	4124	broad.mit.edu	37	5	109183456	109183456	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:109183456C>T	ENST00000261483.4	+	19	3993	c.2941C>T	c.(2941-2943)Cga>Tga	p.R981*		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	981					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TAATCTATTTCGAATACTACT	0.343000													21	10					0	0	0.000878237	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524252	26524252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:26524252C>T	ENST00000456354.2	+	4	602	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	179					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AATCAATATTCCCTCCATCAA	0.522000													36	19					0	0	0.00222228	0	0
PRG4	10216	broad.mit.edu	37	1	186276646	186276646	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:186276646A>C	ENST00000445192.2	+	7	1840	c.1795A>C	c.(1795-1797)Aag>Cag	p.K599Q	PRG4_ENST00000367486.3_Missense_Mutation_p.K556Q|PRG4_ENST00000367483.4_Missense_Mutation_p.K558Q|PRG4_ENST00000367485.4_Missense_Mutation_p.K506Q|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	599	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCACCAAGAAGCCTGCACC	0.647000													21	12					0	0	0.000586117	0	0
SLC1A6	6511	broad.mit.edu	37	19	15067385	15067385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:15067385G>A	ENST00000430939.2	-	6	1009	c.880C>T	c.(880-882)Ctt>Ttt	p.L294F	SLC1A6_ENST00000221742.3_Missense_Mutation_p.L358F|SLC1A6_ENST00000600144.1_Intron			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	358					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	ATGAGGGGAAGGACAATGCCG	0.587000													7	15					0	0	0.000157383	0	0
CLCN1	1180	broad.mit.edu	37	7	143044022	143044022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:143044022G>A	ENST00000343257.2	+	20	2470	c.2383G>A	c.(2383-2385)Gat>Aat	p.D795N		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	795					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGATTTAGTGGATAACATGTC	0.398000													85	35					0	0	0.000781405	0	0
ATP1B4	23439	broad.mit.edu	37	X	119513344	119513344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:119513344C>T	ENST00000218008.3	+	8	986	c.929C>T	c.(928-930)cCc>cTc	p.P310L	ATP1B4_ENST00000361319.3_Missense_Mutation_p.P306L|ATP1B4_ENST00000539306.1_Missense_Mutation_p.P267L	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	310					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TACACATCCCCCTTGGTGGCA	0.473000													36	5					0	0	0.00148497	0	0
HKR1	284459	broad.mit.edu	37	19	37854458	37854458	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:37854458C>T	ENST00000591471.1	+	9	2583	c.942C>T	c.(940-942)ggC>ggT	p.G314G	HKR1_ENST00000544914.1_Silent_p.G314G|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000324411.4_Silent_p.G587G|HKR1_ENST00000541583.2_Silent_p.G526G|HKR1_ENST00000589392.1_Silent_p.G569G|HKR1_ENST00000392153.3_Silent_p.G568G			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	587					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGGGCAAGGCTTTTGTGCTA	0.552000													16	21					0	0	0.000422831	0	0
RNF17	56163	broad.mit.edu	37	13	25362263	25362263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:25362263C>T	ENST00000255324.5	+	7	801	c.749C>T	c.(748-750)tCg>tTg	p.S250L	RNF17_ENST00000381921.1_Missense_Mutation_p.S250L|RNF17_ENST00000255325.5_Missense_Mutation_p.S251L|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	250					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTACAATTATCGCCTTCTCTA	0.299000													17	37					0	0	0.00121646	0	0
CLDN2	9075	broad.mit.edu	37	X	106171786	106171786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:106171786G>A	ENST00000541806.1	+	2	847	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	CLDN2_ENST00000336803.1_Missense_Mutation_p.E110K|CLDN2_ENST00000540876.1_Missense_Mutation_p.E110K	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	110					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CTTCTGCCAGGAATCCCGAGC	0.547000													38	4					0	0	0.00170553	0	0
OR2K2	26248	broad.mit.edu	37	9	114090351	114090351	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:114090351G>A	ENST00000374428.1	-	1	449	c.450C>T	c.(448-450)gaC>gaT	p.D150D	OR2K2_ENST00000302681.1_Silent_p.D121D			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CCACATAACGGTCATATGCCA	0.532000													41	8					0	0	0.00170553	0	0
FBLN7	129804	broad.mit.edu	37	2	112922660	112922660	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:112922660C>T	ENST00000331203.2	+	3	589	c.318C>T	c.(316-318)acC>acT	p.T106T	FBLN7_ENST00000409450.3_Silent_p.T106T|FBLN7_ENST00000409903.1_Silent_p.T106T|FBLN7_ENST00000409667.3_Silent_p.T106T|FBLN7_ENST00000472377.1_3'UTR	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	106	Sushi.				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCCATTTTACCTGCAACCCTG	0.572000													35	49					0	0	0.00058488	0	0
SLC4A10	57282	broad.mit.edu	37	2	162821560	162821560	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:162821560G>A	ENST00000375514.5	+	23	3266		c.e23-1		SLC4A10_ENST00000446997.1_Splice_Site|SLC4A10_ENST00000421911.1_Splice_Site|SLC4A10_ENST00000272716.5_Splice_Site|SLC4A10_ENST00000415876.2_Splice_Site	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10						bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			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						ATTTACTTCAGGTGTTAGCCC	0.368000													19	36					0	0	0.00074312	0	0
RNF123	63891	broad.mit.edu	37	3	49753850	49753850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:49753850C>T	ENST00000327697.6	+	35	3584	c.3440C>T	c.(3439-3441)cCc>cTc	p.P1147L	RNF123_ENST00000433785.1_Missense_Mutation_p.P259L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1147						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GACCACTATCCCATTCTGGTG	0.642000													127	20					0	0	0.000781405	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33016764	33016764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:33016764G>A	ENST00000357505.6	-	7	1969	c.1865C>T	c.(1864-1866)tCt>tTt	p.S622F	N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.S637F|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.S622F|N4BP2L2_ENST00000446957.2_Intron	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AATTTCTGGAGAAATAAACCC	0.333000													32	15					0	0	0.0024448	0	0
CNTN5	53942	broad.mit.edu	37	11	100179157	100179157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:100179157G>A	ENST00000524871.1	+	21	2977	c.2687G>A	c.(2686-2688)tGg>tAg	p.W896*	CNTN5_ENST00000279463.3_Nonsense_Mutation_p.W896*|CNTN5_ENST00000528682.1_Nonsense_Mutation_p.W896*|CNTN5_ENST00000527185.1_Nonsense_Mutation_p.W896*|CNTN5_ENST00000418526.2_Nonsense_Mutation_p.W822*|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	896	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTTGTTGCATGGAAACACATT	0.393000													22	3					0	0	0.000586117	0	0
TLDC2	140711	broad.mit.edu	37	20	35507473	35507473	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:35507473C>T	ENST00000217320.3	+	3	263	c.219C>T	c.(217-219)acC>acT	p.T73T	TLDC2_ENST00000602922.1_Silent_p.T73T	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2									p.T73T(1)									CAAGAGTCACCGGCCATCCCT	0.632000													37	131					0	0	0.000509022	0	0
TENC1	23371	broad.mit.edu	37	12	53456001	53456001	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:53456001C>T	ENST00000314250.6	+	23	3929	c.3639C>T	c.(3637-3639)atC>atT	p.I1213I	TENC1_ENST00000314276.3_Silent_p.I1223I|TENC1_ENST00000379902.3_Silent_p.I1089I|TENC1_ENST00000451358.1_Silent_p.I1203I|TENC1_ENST00000552570.1_Silent_p.I1213I|TENC1_ENST00000549700.1_Silent_p.I1148I|TENC1_ENST00000546602.1_Silent_p.I1116I	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1213	SH2.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGGTGAAGATCAAGGGCTGCC	0.597000													34	20					0	0	0.00111076	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754840	140754840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140754840C>T	ENST00000517434.1	+	1	1190	c.1190C>T	c.(1189-1191)tCa>tTa	p.S397L	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGAAAAATCAGTTGGCAAT	0.453000													34	56					0	0	0.00058488	0	0
ZNF28	7576	broad.mit.edu	37	19	53304241	53304241	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:53304241A>C	ENST00000438150.2	-	2	1591	c.698T>G	c.(697-699)cTc>cGc	p.L233R	ZNF28_ENST00000414252.2_Missense_Mutation_p.L233R|ZNF28_ENST00000457749.2_Missense_Mutation_p.L286R|ZNF28_ENST00000360272.4_Missense_Mutation_p.L233R			P17035	ZNF28_HUMAN	zinc finger protein 28	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGAAGGAAGAGGGATGTATT	0.403000													27	135					0	0	0.000720815	0	0
STAT4	6775	broad.mit.edu	37	2	192012914	192012914	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:192012914G>A	ENST00000392320.2	-	2	330	c.16C>T	c.(16-18)Caa>Taa	p.Q6*	STAT4_ENST00000358470.4_Nonsense_Mutation_p.Q6*|STAT4_ENST00000409995.1_Nonsense_Mutation_p.Q6*	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	6					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TGTTGGACTTGATTCCACTGA	0.358000													38	70					0	0	0.00222228	0	0
CCDC88C	440193	broad.mit.edu	37	14	91780260	91780260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:91780260C>T	ENST00000389857.6	-	15	1986	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	634					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain 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)				AGCTCCCTCTCCAGCTTCTCT	0.627000													23	8					0	0	0.000375601	0	0
OSMR	9180	broad.mit.edu	37	5	38919081	38919081	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:38919081C>T	ENST00000274276.3	+	11	1904	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	501	Fibronectin type-III 2.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GACAGGTGTTCCTACCAAATC	0.438000													33	6					0	0	0.00111076	0	0
SCN1B	6324	broad.mit.edu	37	19	35530543	35530543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:35530543G>A	ENST00000262631.5	+	5	732	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	SCN1B_ENST00000595652.1_Missense_Mutation_p.E128K	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	199					axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCACAGCTCGGAATACCTGGC	0.622000													9	16					0	0	0.000673444	0	0
PKMYT1	9088	broad.mit.edu	37	16	3023012	3023012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:3023012G>A	ENST00000262300.8	-	9	1950	c.1442C>T	c.(1441-1443)cCc>cTc	p.P481L	PKMYT1_ENST00000431515.2_Intron|PKMYT1_ENST00000574385.1_Missense_Mutation_p.P472L|PAQR4_ENST00000293978.8_3'UTR|PKMYT1_ENST00000574730.1_Missense_Mutation_p.P412L|PAQR4_ENST00000318782.8_3'UTR|PKMYT1_ENST00000440027.2_3'UTR|PAQR4_ENST00000572687.1_3'UTR|PKMYT1_ENST00000573944.1_Missense_Mutation_p.P472L	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	481	Interaction with CDC2-CCNB1.|Interaction with PIN1.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CTCAAAGGAGGGGAAGGAGCC	0.562000													14	19					0	0	0.000566183	0	0
SPN	6693	broad.mit.edu	37	16	29675227	29675227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:29675227G>A	ENST00000360121.3	+	2	270	c.178G>A	c.(178-180)Gac>Aac	p.D60N	AC009133.19_ENST00000449759.1_Intron|SPN_ENST00000395389.2_Missense_Mutation_p.D60N	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	60					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CAGCACTGGGGACCAGACCTC	0.552000													71	41					0	0	0.000781405	0	0
HYAL4	23553	broad.mit.edu	37	7	123508568	123508568	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:123508568A>G	ENST00000223026.4	+	3	879	c.241A>G	c.(241-243)Aag>Gag	p.K81E	HYAL4_ENST00000476325.1_Missense_Mutation_p.K81E	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	81					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CCCACTGGCCAAGGCCAGGGG	0.403000													81	35					0	0	0.000781405	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92706137	92706137	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:92706137C>T	ENST00000318445.6	+	10	2119	c.1905C>T	c.(1903-1905)tcC>tcT	p.S635S	SLCO3A1_ENST00000555549.1_3'UTR|RP11-24J19.1_ENST00000557683.1_RNA|RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000424469.2_Silent_p.S635S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	635					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CGCTCAAATCCTTCGCCTTCA	0.542000													36	20					0	0	0.00195071	0	0
SPATA13	221178	broad.mit.edu	37	13	24874551	24874551	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:24874551C>T	ENST00000424834.2	+	14	4069	c.3596C>T	c.(3595-3597)tCa>tTa	p.S1199L	SPATA13_ENST00000343003.6_Missense_Mutation_p.S518L|SPATA13_ENST00000382108.3_Missense_Mutation_p.S1199L|SPATA13_ENST00000399949.2_Missense_Mutation_p.S496L|SPATA13_ENST00000382095.4_Missense_Mutation_p.S574L|SPATA13_ENST00000409126.1_Missense_Mutation_p.S434L			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	574					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		ATGGAAATTTCAGAAAACCAG	0.368000													15	22					0	0	0.00121646	0	0
OR6V1	346517	broad.mit.edu	37	7	142749553	142749553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:142749553G>A	ENST00000418316.1	+	1	137	c.116G>A	c.(115-117)gGa>gAa	p.G39E		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCCTTCATGGGAAACACCATC	0.502000													50	190					0	0	0.000781405	0	0
CACNA1G	8913	broad.mit.edu	37	17	48668851	48668851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:48668851C>T	ENST00000352832.5	+	11	2881	c.2509C>T	c.(2509-2511)Cgc>Tgc	p.R837C	CACNA1G_ENST00000514079.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R837C|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R837C|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R837C|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R837C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R837C|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R837C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R837C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R837C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R837C	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	837					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCGGACCTTCCGCCTGATGCG	0.672000													7	6					0	0	0.00198382	0	0
CYP2C9	1559	broad.mit.edu	37	10	96731876	96731876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:96731876C>T	ENST00000260682.6	+	6	847	c.835C>T	c.(835-837)Cca>Tca	p.P279S		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	279					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GCACAACCAACCATCTGAATT	0.363000													47	12					0	0	0.000781405	0	0
DTX2	113878	broad.mit.edu	37	7	76112063	76112063	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:76112063C>T	ENST00000324432.5	+	5	1017	c.507C>T	c.(505-507)tgC>tgT	p.C169C	DTX2_ENST00000307569.8_Silent_p.C169C|DTX2_ENST00000446600.1_Silent_p.C78C|DTX2_ENST00000446820.2_Silent_p.C169C|DTX2_ENST00000430490.2_Silent_p.C169C|DTX2_ENST00000413936.2_Silent_p.C169C	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	169	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CCAGCTTCTGCCGCAGCGTGC	0.652000													17	27					0	0	0.000422831	0	0
F13A1	2162	broad.mit.edu	37	6	6266913	6266913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:6266913G>A	ENST00000264870.3	-	4	714	c.449C>T	c.(448-450)tCc>tTc	p.S150F		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	150					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ACATTTGGGGGAAGACTGGAT	0.498000													13	57					0	0	0.00136819	0	0
PSMB10	5699	broad.mit.edu	37	16	67968801	67968801	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:67968801C>A	ENST00000358514.4	-	7	946	c.609G>T	c.(607-609)ttG>ttT	p.L203F	CTC-479C5.12_ENST00000573493.1_3'UTR	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	203					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		CCAGGTCACCCAAGATCCCGG	0.617000													7	171					0.000673444	0.00319079	0.000673444	1	0
PI15	51050	broad.mit.edu	37	8	75756215	75756215	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:75756215G>A	ENST00000260113.2	+	3	452		c.e3-1		PI15_ENST00000523773.1_Splice_Site|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15							extracellular region	peptidase inhibitor activity	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TTCCCCTACAGGTTTGGGATG	0.393000													62	56					0	0	0.000781405	0	0
FAT2	2196	broad.mit.edu	37	5	150922028	150922028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:150922028G>A	ENST00000261800.5	-	9	8672	c.8660C>T	c.(8659-8661)tCc>tTc	p.S2887F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2887	Cadherin 25.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCTGAGAGGATAGCTGGAT	0.498000													36	91					0	0	0.00058488	0	0
TLR5	7100	broad.mit.edu	37	1	223283826	223283826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:223283826G>A	ENST00000540964.1	-	4	3009	c.2548C>T	c.(2548-2550)Ccg>Tcg	p.P850S	TLR5_ENST00000342210.6_Missense_Mutation_p.P850S			O60602	TLR5_HUMAN	toll-like receptor 5	850			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GTTTGCAACGGAATGTTATTG	0.378000													24	76					0	0	0.00178596	0	0
SPAG17	200162	broad.mit.edu	37	1	118629581	118629581	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:118629581G>A	ENST00000336338.5	-	11	1475	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	470						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGCTCTGGGGGATGGCTCCC	0.522000													26	97					0	0	0.00127121	0	0
PANX3	116337	broad.mit.edu	37	11	124489263	124489263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:124489263C>T	ENST00000284288.2	+	4	678	c.611C>T	c.(610-612)tCg>tTg	p.S204L		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	204					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CGTTCACATTCGCTAGTGGCT	0.512000													42	3					0	0	0.000509022	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71555568	71555568	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:71555568G>A	ENST00000265382.3	+	14	1669	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.G455E	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	455						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CTAGCCCTGGGATCCCGACAC	0.423000													83	12					0	0	0.000781405	0	0
DNAH11	8701	broad.mit.edu	37	7	21657337	21657337	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:21657337A>C	ENST00000328843.6	+	23	4242	c.4211A>C	c.(4210-4212)gAg>gCg	p.E1404A	DNAH11_ENST00000409508.3_Missense_Mutation_p.E1399A			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1404	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCCATCACAGAGTTACAGAGC	0.517000									Kartagener syndrome				22	23					0	0	0.000375601	0	0
MROH7	374977	broad.mit.edu	37	1	55158216	55158216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:55158216G>A	ENST00000414150.2	+	16	3109	c.2831G>A	c.(2830-2832)gGa>gAa	p.G944E	MROH7_ENST00000409996.1_Missense_Mutation_p.G512E|MROH7_ENST00000454855.2_Missense_Mutation_p.G462E|MROH7_ENST00000545244.1_Missense_Mutation_p.G512E|MROH7_ENST00000339553.5_Missense_Mutation_p.G944E|MROH7_ENST00000421030.2_Missense_Mutation_p.G944E|MROH7_ENST00000395690.2_Missense_Mutation_p.G944E					maestro heat-like repeat family member 7																		CACCACCGCGGAGTGGCCTTG	0.612000													16	34					0	0	0.000422831	0	0
ELN	2006	broad.mit.edu	37	7	73477977	73477977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:73477977G>A	ENST00000252034.7	+	29	2344	c.1945G>A	c.(1945-1947)Gga>Aga	p.G649R	ELN_ENST00000429192.1_Missense_Mutation_p.G635R|ELN_ENST00000358929.4_Missense_Mutation_p.G717R|ELN_ENST00000414324.1_Missense_Mutation_p.G625R|ELN_ENST00000380553.4_Missense_Mutation_p.G513R|ELN_ENST00000380562.4_Missense_Mutation_p.G655R|ELN_ENST00000380575.4_Missense_Mutation_p.G620R|ELN_ENST00000380576.5_Missense_Mutation_p.G630R|ELN_ENST00000458204.1_Missense_Mutation_p.G639R|ELN_ENST00000357036.5_Missense_Mutation_p.G654R|ELN_ENST00000445912.1_Missense_Mutation_p.G649R|ELN_ENST00000320399.6_Missense_Mutation_p.G682R|ELN_ENST00000320492.7_Missense_Mutation_p.G568R|ELN_ENST00000380584.4_Missense_Mutation_p.G601R	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	711	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGGCTCGGAGGACTCGGAGT	0.597000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						57	130					0	0	0.000781405	0	0
FRAS1	80144	broad.mit.edu	37	4	79432514	79432514	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:79432514C>T	ENST00000264895.6	+	64	10307	c.9867C>T	c.(9865-9867)ccC>ccT	p.P3289P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3284					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGGGGACCCCCTTAAGGAGCA	0.547000													24	39					0	0	0.000878237	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684175	75684175	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:75684175C>T	ENST00000370855.5	-	17	1642	c.1529_splice	c.e17+1	p.R510_splice	SLC44A5_ENST00000370859.3_Splice_Site_p.R510_splice|SLC44A5_ENST00000535611.1_Splice_Site_p.R380_splice	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	510						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGAAACTTACCGTATGGCTCG	0.423000													102	43					0	0	0.000781405	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297845	139297845	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:139297845C>T	ENST00000406164.1	-	4	614	c.51G>A	c.(49-51)ggG>ggA	p.G17G	NMNAT3_ENST00000296202.7_Silent_p.G54G|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000339837.5_Silent_p.G17G|RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000511444.1_Silent_p.G17G|NMNAT3_ENST00000512391.1_Silent_p.G54G|NMNAT3_ENST00000406824.1_5'UTR			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	54					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GGTCTTTCTTCCCATAGGTGT	0.567000													19	23					0	0	0.00229938	0	0
KRT27	342574	broad.mit.edu	37	17	38936698	38936698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:38936698C>T	ENST00000301656.3	-	3	578	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	180	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AGCGCTAGCTCGTTTTCAAAC	0.453000													7	24					0	0	0.00198382	0	0
GDPD4	220032	broad.mit.edu	37	11	76944136	76944136	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:76944136C>T	ENST00000315938.4	-	13	1573	c.1323G>A	c.(1321-1323)agG>agA	p.R441R	GDPD4_ENST00000376217.2_Silent_p.R441R	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	441	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTGAGTTAATCCTGGAGCACC	0.468000													27	18					0	0	0.001512	0	0
BAI3	577	broad.mit.edu	37	6	70071332	70071332	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:70071332C>T	ENST00000370598.1	+	29	4988	c.4167C>T	c.(4165-4167)gcC>gcT	p.A1389A	BAI3_ENST00000546190.1_Silent_p.A353A|BAI3_ENST00000238918.8_Silent_p.A595A	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1389					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATTTCATGGCCTCTGAGTTGG	0.418000													49	16					0	0	0.000781405	0	0
COL22A1	169044	broad.mit.edu	37	8	139729076	139729076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:139729076C>T	ENST00000303045.6	-	28	2838	c.2392G>A	c.(2392-2394)Gga>Aga	p.G798R	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G798R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	798	Collagen-like 6.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCTTCTCTCCAGGTCGGCCT	0.383000										HNSCC(7;0.00092)			57	35					0	0	0.000781405	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99273742	99273742	+	Silent	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:99273742T>C	ENST00000408927.3	+	4	464	c.351T>C	c.(349-351)tgT>tgC	p.C117C	RAP1GDS1_ENST00000264572.7_Silent_p.C118C|RAP1GDS1_ENST00000512857.1_3'UTR|RAP1GDS1_ENST00000339360.5_Silent_p.C118C|RAP1GDS1_ENST00000453712.2_Silent_p.C118C|RAP1GDS1_ENST00000380158.4_Silent_p.C118C|RAP1GDS1_ENST00000408900.3_Silent_p.C117C	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	117							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GAAACATATGTTACGATAGCC	0.398000			T	NUP98	T-ALL								7	17					0	0	0.00198382	0	0
ODAM	54959	broad.mit.edu	37	4	71068511	71068511	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:71068511G>A	ENST00000396094.2	+	9	735	c.687G>A	c.(685-687)gcG>gcA	p.A229A		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	229					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						AAAAAGAAGCGATCAACTTTA	0.388000													7	20					0	0	0.00198382	0	0
PSG8	440533	broad.mit.edu	37	19	43268180	43268180	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:43268180G>A	ENST00000404209.4	-	2	414	c.318C>T	c.(316-318)tcC>tcT	p.S106S	PSG8_ENST00000401467.2_Silent_p.S106S|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Silent_p.S106S	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	106	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGATCAGCAGGGATGCATTGG	0.428000													89	125					0	0	0.000781405	0	0
SLC6A18	348932	broad.mit.edu	37	5	1243685	1243685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:1243685G>A	ENST00000324642.3	+	9	1270	c.1147G>A	c.(1147-1149)Ggc>Agc	p.G383S	SLC6A18_ENST00000296821.4_Missense_Mutation_p.G312S	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	383					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTCGGGCCCGGGCCTGGCCTT	0.642000													44	84					0	0	0.000781405	0	0
SH3BGR	6450	broad.mit.edu	37	21	40823881	40823881	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:40823881G>A	ENST00000333634.4	+	1	126	c.48G>A	c.(46-48)cgG>cgA	p.R16R	SH3BGR_ENST00000380631.1_Intron|SH3BGR_ENST00000380634.1_Intron|SH3BGR_ENST00000380637.3_Intron|SH3BGR_ENST00000458295.1_Intron	NM_007341.2	NP_031367.1	P55822	SH3BG_HUMAN	SH3 domain binding glutamic acid-rich protein	16					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		AGTTGGAGCGGGACTGCCGGA	0.592000													26	38					0	0	0.000586117	0	0
FAM153B	202134	broad.mit.edu	37	5	175530241	175530241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:175530241G>A	ENST00000253490.4	+	13	733	c.676G>A	c.(676-678)Gat>Aat	p.D226N	FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Missense_Mutation_p.D149N|FAM153B_ENST00000510151.1_Missense_Mutation_p.D149N			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	226										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	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)	Kidney(146;0.0965)		TCTGATCAGGGATGTACTTCA	0.502000													56	193					0	0	0.000781405	0	0
KIAA1407	57577	broad.mit.edu	37	3	113753875	113753875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:113753875C>T	ENST00000295878.3	-	6	861	c.715G>A	c.(715-717)Gct>Act	p.A239T	KIAA1407_ENST00000545063.1_Missense_Mutation_p.A70T	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	239										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCTCCAGAGCCTTCCTTTTC	0.483000													65	77					0	0	0.000781405	0	0
FSD2	123722	broad.mit.edu	37	15	83434727	83434727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:83434727C>T	ENST00000334574.8	-	10	1791	c.1610G>A	c.(1609-1611)aGc>aAc	p.S537N	FSD2_ENST00000541889.1_Missense_Mutation_p.S492N			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	537	Fibronectin type-III 2.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GATAATGTAGCTCCGCCCCGG	0.607000													15	8					0	0	0.000422831	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116067573	116067573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:116067573C>T	ENST00000369271.3	-	10	1363	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	AFAP1L2_ENST00000304129.4_Missense_Mutation_p.E355K|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.E408K	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	355	PH 2.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTGGATGTCTCGAGGGACCTC	0.542000													28	8					0	0	0.0024448	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90499983	90499983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:90499983C>T	ENST00000325643.5	+	4	647	c.581C>T	c.(580-582)cCc>cTc	p.P194L		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CCACCAGCTCCCCCAGCTCCT	0.637000													40	10					0	0	0.000509022	0	0
L1CAM	3897	broad.mit.edu	37	X	153130444	153130444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:153130444C>T	ENST00000370060.1	-	23	3067	c.2878G>A	c.(2878-2880)Gag>Aag	p.E960K	L1CAM_ENST00000361981.3_Missense_Mutation_p.E955K|L1CAM_ENST00000538883.1_Missense_Mutation_p.E962K|L1CAM_ENST00000543994.1_Missense_Mutation_p.E962K|L1CAM_ENST00000361699.4_Missense_Mutation_p.E960K|L1CAM_ENST00000370055.1_Missense_Mutation_p.E955K|L1CAM_ENST00000370057.3_Missense_Mutation_p.E960K	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	960	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCCCCCTCATCCACTGTG	0.677000													24	3					0	0	0.000878237	0	0
INADL	10207	broad.mit.edu	37	1	62330101	62330101	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:62330101G>C	ENST00000371158.2	+	20	2745	c.2631G>C	c.(2629-2631)gaG>gaC	p.E877D	INADL_ENST00000316485.6_Missense_Mutation_p.E877D	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	877					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AAGAATATGAGTTATATCAAG	0.438000													21	75					0	0	0.00229938	0	0
CNGB3	54714	broad.mit.edu	37	8	87683209	87683209	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:87683209C>T	ENST00000320005.5	-	4	503	c.456G>A	c.(454-456)gaG>gaA	p.E152E		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	152					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGAGATCTCCCTCTACCAACT	0.498000													125	128					0	0	0.000781405	0	0
TECTA	7007	broad.mit.edu	37	11	121008598	121008598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:121008598C>T	ENST00000392793.1	+	11	3681	c.3410C>T	c.(3409-3411)tCt>tTt	p.S1137F	TECTA_ENST00000264037.2_Missense_Mutation_p.S1137F			O75443	TECTA_HUMAN	tectorin alpha	1137	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGCTCAGACTCTTTCCCCAAG	0.567000													22	1					0	0	0.00229938	0	0
AGPAT6	137964	broad.mit.edu	37	8	41470463	41470463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:41470463C>T	ENST00000396987.3	+	8	1822	c.895C>T	c.(895-897)Cac>Tac	p.H299Y	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	299					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			GAAGGATCGCCACCTGGTGGC	0.542000											OREG0018739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	13					0	0	0.000274275	0	0
OR5D14	219436	broad.mit.edu	37	11	55563802	55563802	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:55563802C>T	ENST00000335605.1	+	1	771	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATGGGACCATCCTTTTCCTTT	0.483000													17	31					0	0	0.000958276	0	0
ACSBG1	23205	broad.mit.edu	37	15	78475076	78475076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:78475076G>A	ENST00000258873.4	-	6	920	c.715C>T	c.(715-717)Cct>Tct	p.P239S	ACSBG1_ENST00000560817.1_5'UTR|ACSBG1_ENST00000541759.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	239					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TTGTTTGGAGGAGGTTCTTTA	0.517000													58	61					0	0	0.000781405	0	0
TGFBR3	7049	broad.mit.edu	37	1	92185599	92185599	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:92185599G>A	ENST00000212355.4	-	9	1729	c.1264C>T	c.(1264-1266)Cct>Tct	p.P422S	TGFBR3_ENST00000370399.2_Missense_Mutation_p.P421S|TGFBR3_ENST00000525962.1_Missense_Mutation_p.P422S	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	422					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TTTGGCCGAGGGAGCCCATCT	0.557000													109	44					0	0	0.000781405	0	0
PASD1	139135	broad.mit.edu	37	X	150832763	150832763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:150832763G>A	ENST00000370357.4	+	11	1259	c.1014G>A	c.(1012-1014)atG>atA	p.M338I		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	338						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCCTGATGGATCCAGTGG	0.597000													24	0					0	0	0.000586117	0	0
PRKDC	5591	broad.mit.edu	37	8	48839794	48839794	+	Silent	SNP	G	G	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:48839794G>T	ENST00000314191.2	-	21	2435	c.2379C>A	c.(2377-2379)ctC>ctA	p.L793L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L793L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	793					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCAGGCAGGGGAGAATGTCTT	0.388000								Non-homologous end-joining					14	30					3.35478e-16	1.61553e-15	0.000308642	1	0
VWA3B	200403	broad.mit.edu	37	2	98709692	98709692	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:98709692A>G	ENST00000477737.1	+	2	341	c.137A>G	c.(136-138)aAg>aGg	p.K46R	VWA3B_ENST00000435344.1_Missense_Mutation_p.K46R|VWA3B_ENST00000451075.2_5'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	46										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATGGGCTTAAGAGCAACAAA	0.453000													43	43					0	0	0.000509022	0	0
POM121C	100101267	broad.mit.edu	37	7	75052288	75052288	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:75052288G>A	ENST00000453279.2	-	13	2111	c.1247C>T	c.(1246-1248)aCc>aTc	p.T416I	POM121C_ENST00000257665.5_Missense_Mutation_p.T658I	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	658	Pore side (Potential).|Ser-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TGCTTGAAGGGTTGGAGGTGC	0.602000													71	30					0	0	0.000781405	0	0
FLRT1	23769	broad.mit.edu	37	11	63884858	63884858	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:63884858C>T	ENST00000246841.3	+	2	2162	c.1119C>T	c.(1117-1119)agC>agT	p.S373S	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	345					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						ACATTACCAGCGAGATGGACG	0.682000													23	24					0	0	0.000586117	0	0
SNRNP48	154007	broad.mit.edu	37	6	7606287	7606287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:7606287C>T	ENST00000342415.5	+	8	889	c.830C>T	c.(829-831)tCa>tTa	p.S277L		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	277					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CGATCAGCTTCAGTAGATTCA	0.413000													56	94					0	0	0.000781405	0	0
ZNF714	148206	broad.mit.edu	37	19	21300638	21300638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:21300638C>T	ENST00000596143.1	+	5	1493	c.1168C>T	c.(1168-1170)Cat>Tat	p.H390Y	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TAAGATAATTCATACTGGAGA	0.348000													13	13					0	0	0.00185496	0	0
BDP1	55814	broad.mit.edu	37	5	70837355	70837355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:70837355C>T	ENST00000358731.4	+	29	6360	c.6097C>T	c.(6097-6099)Cac>Tac	p.H2033Y	BDP1_ENST00000380675.2_Missense_Mutation_p.H169Y	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2033					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TAATGTAAATCACAAAATTGT	0.313000													74	126					0	0	0.000781405	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133954054	133954054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:133954054C>T	ENST00000298622.4	+	9	1582	c.1444C>T	c.(1444-1446)Ccg>Tcg	p.P482S		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGACCAGACCCCGTGCACCCC	0.622000													11	1					0	0	0.000978159	0	0
ATP10A	57194	broad.mit.edu	37	15	26026240	26026240	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:26026240G>A	ENST00000356865.6	-	2	691	c.580C>T	c.(580-582)Cac>Tac	p.H194Y		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	194					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTCTCGATGTGGCATAGCCCG	0.592000													31	50					0	0	0.001512	0	0
PROKR2	128674	broad.mit.edu	37	20	5282938	5282938	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:5282938G>A	ENST00000546004.1	-	3	1149	c.903C>T	c.(901-903)ttC>ttT	p.F301F	PROKR2_ENST00000217270.3_Silent_p.F301F			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	301						integral to membrane|plasma membrane	neuropeptide Y receptor activity			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						ACACAGTGGGGAAGAAGTCAC	0.552000										HNSCC(71;0.22)			44	18					0	0	0.00170553	0	0
SCAND3	114821	broad.mit.edu	37	6	28543477	28543477	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:28543477C>T	ENST00000452236.2	-	3	1622	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	335					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTGTGATGTTCTTGTATTTCG	0.368000													101	101					0	0	0.000781405	0	0
PDZD2	23037	broad.mit.edu	37	5	32074472	32074472	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:32074472T>C	ENST00000438447.1	+	18	3648	c.3260T>C	c.(3259-3261)tTg>tCg	p.L1087S	PDZD2_ENST00000282493.3_Missense_Mutation_p.L1087S			O15018	PDZD2_HUMAN	PDZ domain containing 2	1087					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCACCCAAATTGGAATACACA	0.587000													62	86					0	0	0.000781405	0	0
PKM	5315	broad.mit.edu	37	15	72511451	72511451	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:72511451C>T	ENST00000449901.2	-	3	192	c.34_splice	c.e3-1	p.G12_splice	PKM_ENST00000565184.1_5'UTR|PKM_ENST00000565154.1_5'UTR|PKM_ENST00000389093.3_5'UTR|PKM_ENST00000568883.1_5'UTR|PKM_ENST00000568459.1_5'UTR|PKM_ENST00000335181.5_5'UTR|PKM_ENST00000319622.6_5'UTR	NM_001206798.1	NP_001193727.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						CTGCTGAGGTCCTGGGTCGAG	0.498000													6	90					0	0	0.00116845	0	0
FBXO10	26267	broad.mit.edu	37	9	37521630	37521630	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:37521630G>C	ENST00000432825.2	-	8	2184	c.2136C>G	c.(2134-2136)gaC>gaG	p.D712E	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.D237E	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	712						ubiquitin ligase complex	ubiquitin-protein ligase activity	p.D712D(1)		breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GCAGTGGGTCGTCCTCCTTCT	0.562000													13	3					0	0	0.00185496	0	0
ZNF521	25925	broad.mit.edu	37	18	22804973	22804973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:22804973G>A	ENST00000361524.3	-	4	3057	c.2909C>T	c.(2908-2910)tCc>tTc	p.S970F	ZNF521_ENST00000538137.2_Missense_Mutation_p.S970F|ZNF521_ENST00000584787.1_Missense_Mutation_p.S750F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	970					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTTAAAAGGGAGGGAAACCG	0.488000			T	PAX5	ALL								35	29					0	0	0.00170553	0	0
CDH18	1016	broad.mit.edu	37	5	19571815	19571815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:19571815C>T	ENST00000507958.1	-	10	2116	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	CDH18_ENST00000502796.1_Missense_Mutation_p.D376N|CDH18_ENST00000274170.4_Missense_Mutation_p.D376N|CDH18_ENST00000506372.1_Missense_Mutation_p.D376N|CDH18_ENST00000511273.1_Missense_Mutation_p.D376N|CDH18_ENST00000382275.1_Missense_Mutation_p.D376N			Q13634	CAD18_HUMAN	cadherin 18, type 2	376	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCATCTACATCCCCAACAATG	0.418000													33	0					0	0	0.00058488	0	0
ADRA1A	148	broad.mit.edu	37	8	26623662	26623662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:26623662C>T	ENST00000354550.4	-	3	1473	c.1274G>A	c.(1273-1275)gGa>gAa	p.G425E	ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Intron	NM_033304.2	NP_150647.2	P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	0					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	ACAATCCATTCCCCTCTGTCC	0.378000													8	46					0	0	0.000274275	0	0
LRP1	4035	broad.mit.edu	37	12	57588878	57588878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:57588878C>T	ENST00000243077.3	+	51	8768	c.8302C>T	c.(8302-8304)Cac>Tac	p.H2768Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2768	LDL-receptor class A 16.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGAGGCTGCTCACTGTGGTAA	0.632000													86	64					0	0	0.000781405	0	0
NTNG1	22854	broad.mit.edu	37	1	107979412	107979412	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:107979412G>C	ENST00000370068.1	+	7	2227	c.1381G>C	c.(1381-1383)Ggc>Cgc	p.G461R	NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370061.3_Missense_Mutation_p.G427R|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.G461R|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.G461R			Q9Y2I2	NTNG1_HUMAN	netrin G1	461	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTGGCACTACGGCTGTCAACG	0.522000													8	29					0	0	0.000442599	0	0
HLA-G	3135	broad.mit.edu	37	6	29797603	29797603	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:29797603C>T	ENST00000428701.1	+	6	1084	c.906C>T	c.(904-906)tcC>tcT	p.S302S	HLA-G_ENST00000376828.2_Silent_p.S307S|HLA-G_ENST00000360323.6_Silent_p.S302S|HLA-G_ENST00000376815.3_Silent_p.S118S|HLA-G_ENST00000376818.3_Silent_p.S210S	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	302	Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						AGCAGTCTTCCCTGCCCACCA	0.582000													35	38					0	0	0.000953801	0	0
ZNF334	55713	broad.mit.edu	37	20	45130722	45130722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:45130722G>A	ENST00000457685.2	-	6	2465	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	ZNF334_ENST00000347606.4_Missense_Mutation_p.A419V|ZNF334_ENST00000593880.1_Missense_Mutation_p.A442V			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CACATTGAGGGCAGATTGACA	0.423000													57	129					0	0	0.000781405	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461796	50461796	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:50461796G>A	ENST00000447370.2	-	8	1485	c.1395C>T	c.(1393-1395)tcC>tcT	p.S465S	SIGLEC11_ENST00000426971.2_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	465					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CAGCCTCCCAGGAGCAGGAGG	0.697000													6	24					0	0	0.00198382	0	0
PLXND1	23129	broad.mit.edu	37	3	129276010	129276010	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:129276010G>A	ENST00000324093.4	-	34	5680	c.5502C>T	c.(5500-5502)atC>atT	p.I1834I	PLXND1_ENST00000504689.1_5'UTR|PLXND1_ENST00000393239.1_3'UTR	NM_015103.2	NP_055918.2	Q9Y4D7	PLXD1_HUMAN	plexin D1	1834					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGCGCTGCACGATCTTCCGGT	0.587000													36	51					0	0	0.00148497	0	0
FAM171A1	221061	broad.mit.edu	37	10	15317887	15317887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:15317887C>T	ENST00000378116.4	-	3	391	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	129						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ACGACATCTTCATATACCATT	0.338000													18	65					0	0	0.00152264	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995914	19995914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:19995914C>T	ENST00000391403.2	-	1	1964	c.1861G>A	c.(1861-1863)Gat>Aat	p.D621N		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	621						integral to membrane		p.D621N(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATTGACCCATCCATTTTATCC	0.393000													68	75					0	0	0.000781405	0	0
HLA-DRB1	3123	broad.mit.edu	37	6	32549441	32549441	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:32549441C>G	ENST00000360004.5	-	3	650	c.545G>C	c.(544-546)tGg>tCg	p.W182S		NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CTGGAAGGTCCAGTCTCCATT	0.552000										Multiple Myeloma(14;0.17)			10	96					0	0	0.00074312	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239141638	239141638	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:239141638G>A	ENST00000456601.1	+	0	906																											GTATAGAATGGTTGGAATTCA	0.383000													47	53					0	0	0.000680045	0	0
NDRG1	10397	broad.mit.edu	37	8	134296509	134296509	+	Silent	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:134296509A>G	ENST00000414097.2	-	2	913	c.46T>C	c.(46-48)Ttg>Ctg	p.L16L	NDRG1_ENST00000518176.1_Silent_p.L16L|NDRG1_ENST00000522476.1_Intron|NDRG1_ENST00000537882.1_5'UTR|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000323851.7_Silent_p.L16L|NDRG1_ENST00000354944.5_Silent_p.L16L	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	16					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TTCTCCACCAAAGGCTTCACC	0.547000			T	ERG	prostate								15	42					0	0	0.00074312	0	0
NUP188	23511	broad.mit.edu	37	9	131745768	131745768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:131745768C>T	ENST00000372577.2	+	19	1921	c.1900C>T	c.(1900-1902)Cgt>Tgt	p.R634C		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	634					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GACTGATCTTCGTCACACAGG	0.478000													19	4					0	0	0.00121646	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21014014	21014014	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:21014014C>T	ENST00000381545.3	+	6	642	c.423C>T	c.(421-423)acC>acT	p.T141T	SLCO1B3_ENST00000261196.2_Silent_p.T141T|LST3_ENST00000540229.1_Silent_p.T141T|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.T141T|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	141					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GTTTATCAACCTGTTTAATTA	0.284000													31	40					0	0	0.001512	0	0
SOX10	6663	broad.mit.edu	37	22	38370153	38370153	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:38370153C>A	ENST00000396884.2	-	4	1032	c.750G>T	c.(748-750)caG>caT	p.Q250H	POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.Q250H	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	250						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CCTTGCCCGACTGCAGCTCTG	0.647000													99	168					4.58075e-42	2.22084e-41	0.000781405	1	0
CNTN5	53942	broad.mit.edu	37	11	100141950	100141950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:100141950G>A	ENST00000524871.1	+	18	2581	c.2291G>A	c.(2290-2292)cGa>cAa	p.R764Q	CNTN5_ENST00000279463.3_Missense_Mutation_p.R764Q|CNTN5_ENST00000528682.1_Missense_Mutation_p.R764Q|CNTN5_ENST00000527185.1_Missense_Mutation_p.R764Q|CNTN5_ENST00000418526.2_Missense_Mutation_p.R690Q|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	764	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACCCCATCTCGAATGATCCGC	0.448000													21	3					0	0	0.00229938	0	0
CD300E	342510	broad.mit.edu	37	17	72608905	72608905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:72608905G>A	ENST00000392619.1	-	4	621	c.586C>T	c.(586-588)Ctc>Ttc	p.L196F	CD300E_ENST00000328630.3_Missense_Mutation_p.L169F|CD300E_ENST00000426295.2_Missense_Mutation_p.L210F	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	169						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGCTGCTGAGCCGGAACCTG	0.622000													23	50					0	0	0.000878237	0	0
PCNX	22990	broad.mit.edu	37	14	71435813	71435813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:71435813G>A	ENST00000304743.2	+	5	1036	c.590G>A	c.(589-591)gGa>gAa	p.G197E	PCNX_ENST00000439984.3_Missense_Mutation_p.G197E|PCNX_ENST00000238570.5_Missense_Mutation_p.G197E	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	197						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGTAAGGAAGGAAGTGAAGAA	0.368000													99	84					0	0	0.000781405	0	0
LINGO4	339398	broad.mit.edu	37	1	151773936	151773936	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:151773936G>A	ENST00000368820.3	-	2	2182	c.1245C>T	c.(1243-1245)atC>atT	p.I415I		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	415	Ig-like C2-type.					integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCGACTTTCGGATCAGGGCTG	0.612000													44	30					0	0	0.000781405	0	0
EFEMP1	2202	broad.mit.edu	37	2	56098174	56098174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:56098174C>T	ENST00000394555.2	-	9	1520	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	EFEMP1_ENST00000394554.1_Missense_Mutation_p.R362Q|EFEMP1_ENST00000355426.3_Missense_Mutation_p.R362Q|EFEMP1_ENST00000424836.2_Missense_Mutation_p.R224Q	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	362	EGF-like 6; calcium-binding (Potential).|Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACAAGGATTTCGTGGATAACA	0.413000													30	24					0	0	0.00209593	0	0
MRPL39	54148	broad.mit.edu	37	21	26960092	26960092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:26960092G>A	ENST00000307301.7	-	10	1020	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S	MRPL39_ENST00000352957.4_Intron	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	0						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						AGGAGAATGGGAAATGGAGTC	0.373000													20	36					0	0	0.00121646	0	0
MTSS1	9788	broad.mit.edu	37	8	125565768	125565768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:125565768C>T	ENST00000518547.1	-	14	2206	c.1733G>A	c.(1732-1734)gGa>gAa	p.G578E	MTSS1_ENST00000524090.1_Missense_Mutation_p.G468E|MTSS1_ENST00000431961.2_Missense_Mutation_p.G296E|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Missense_Mutation_p.G553E|MTSS1_ENST00000395508.2_Missense_Mutation_p.G352E|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000325064.5_Missense_Mutation_p.G582E|MTSS1_ENST00000354184.4_Missense_Mutation_p.G296E	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	578					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CATAGCAGGTCCCAGGGTGGT	0.607000													24	47					0	0	0.000375601	0	0
FSCB	84075	broad.mit.edu	37	14	44975634	44975634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:44975634G>A	ENST00000340446.4	-	1	848	c.557C>T	c.(556-558)tCg>tTg	p.S186L		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	186						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTTTCCCGACGATTTATGTTT	0.373000													40	103					0	0	0.00148497	0	0
LPAR4	2846	broad.mit.edu	37	X	78011239	78011239	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:78011239C>T	ENST00000435339.2	+	2	1278	c.873C>T	c.(871-873)atC>atT	p.I291I	LPAR4_ENST00000373301.2_Silent_p.I291I	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	291						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTGCAAAGATCATGTACCCAA	0.418000													18	1					0	0	0.000958276	0	0
OBSCN	84033	broad.mit.edu	37	1	228560448	228560448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:228560448G>A	ENST00000570156.2	+	105	24914	c.24840G>A	c.(24838-24840)atG>atA	p.M8280I	OBSCN_ENST00000422127.1_Missense_Mutation_p.M7323I|OBSCN_ENST00000366707.4_Missense_Mutation_p.M4957I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7323					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCGAGTTTATGATCTTCAGGA	0.607000													13	8					0	0	0.00185496	0	0
MGAM	8972	broad.mit.edu	37	7	141759293	141759293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141759293G>A	ENST00000475668.2	+	32	3895	c.3841G>A	c.(3841-3843)Gac>Aac	p.D1281N	MGAM_ENST00000549489.2_Missense_Mutation_p.D1281N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1281	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)	CTCAGACATCGACTACATGGA	0.567000													17	30					0	0	0.000958276	0	0
CCDC113	29070	broad.mit.edu	37	16	58287928	58287928	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:58287928C>T	ENST00000219299.4	+	3	334	c.255C>T	c.(253-255)tcC>tcT	p.S85S	CCDC113_ENST00000443128.2_Intron	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	85						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GATCCAAATCCCGGACAGGTA	0.488000													33	31					0	0	0.000953801	0	0
AGBL1	123624	broad.mit.edu	37	15	86807643	86807643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:86807643C>T	ENST00000441037.2	+	10	1198	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	AGBL1_ENST00000389298.3_Missense_Mutation_p.S99F|AGBL1_ENST00000421325.2_Missense_Mutation_p.S368F	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	368					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GTCCAGACTTCCCTTCTGTGC	0.493000													13	13					0	0	0.000308642	0	0
MICALL2	79778	broad.mit.edu	37	7	1482056	1482056	+	Missense_Mutation	SNP	G	G	A	rs148942886		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:1482056G>A	ENST00000297508.7	-	7	1658	c.1483C>T	c.(1483-1485)Ccc>Tcc	p.P495S	MICALL2_ENST00000405088.4_Missense_Mutation_p.P283S	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	495						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TTGGCTAAGGGACTTGCTTGT	0.607000													87	168					0	0	0.000781405	0	0
POM121L12	285877	broad.mit.edu	37	7	53104243	53104243	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:53104243C>T	ENST00000408890.4	+	1	895	c.879C>T	c.(877-879)ccC>ccT	p.P293P		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	293										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTGCTGGCCCCTTTGGCTCCT	0.607000													23	31					0	0	0.000720815	0	0
IL9	3578	broad.mit.edu	37	5	135228119	135228119	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:135228119G>A	ENST00000274520.1	-	5	406	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	132					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTCTTTCTGGAAAATTTCCA	0.368000													31	60					0	0	0.0024448	0	0
CMA1	1215	broad.mit.edu	37	14	24976608	24976608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:24976608G>A	ENST00000250378.3	-	2	192	c.163C>T	c.(163-165)Ctt>Ttt	p.L55F	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	55	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CGTCTTATAAGGAAACCACCA	0.488000													80	83					0	0	0.000781405	0	0
RTTN	25914	broad.mit.edu	37	18	67833372	67833372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:67833372G>A	ENST00000255674.6	-	14	2141	c.1855C>T	c.(1855-1857)Ctt>Ttt	p.L619F	RTTN_ENST00000437017.1_Missense_Mutation_p.L619F|RTTN_ENST00000454359.1_Missense_Mutation_p.L619F	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	619							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATATGGAGAAGCACCTTCTGA	0.433000													26	14					0	0	0.000878237	0	0
CXorf21	80231	broad.mit.edu	37	X	30578385	30578385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:30578385C>T	ENST00000378962.3	-	3	410	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	30										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TCTTCCTTTTCCCCAGCCACC	0.458000													26	0					0	0	0.00047179	0	0
FLG	2312	broad.mit.edu	37	1	152285860	152285860	+	Missense_Mutation	SNP	C	C	T	rs145828067		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:152285860C>T	ENST00000368799.1	-	3	1537	c.1502G>A	c.(1501-1503)cGa>cAa	p.R501Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	501	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R501Q(1)		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)			GGAGCTGTCTCGTGCCTGCTC	0.612000									Ichthyosis				150	88					0	0	0.000781405	0	0
ASPG	374569	broad.mit.edu	37	14	104570685	104570685	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:104570685G>A	ENST00000551177.1	+	8	890	c.798G>A	c.(796-798)gaG>gaA	p.E266E	ASPG_ENST00000455920.2_Silent_p.E266E|ASPG_ENST00000546892.2_Silent_p.E266E	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	266	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TGGTCATGGAGACCTTCGGTT	0.672000													26	14					0	0	0.00106085	0	0
OR52K1	390036	broad.mit.edu	37	11	4510609	4510609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:4510609C>T	ENST00000307632.3	+	1	501	c.479C>T	c.(478-480)cCa>cTa	p.P160L		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTAATGACTCCACTCCCCTTC	0.587000													20	24					0	0	0.00152264	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121612675	121612675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:121612675C>T	ENST00000393386.2	+	4	796	c.385C>T	c.(385-387)Cac>Tac	p.H129Y	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.H129Y	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	129	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GATAACTTTTCACTGGGGAAA	0.363000													62	108					0	0	0.000781405	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644020	37644020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:37644020G>A	ENST00000356958.4	-	5	1039	c.781C>T	c.(781-783)Cag>Tag	p.Q261*	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Nonsense_Mutation_p.Q206*|ZNF585A_ENST00000392157.2_Nonsense_Mutation_p.Q206*|ZNF585A_ENST00000292841.5_Nonsense_Mutation_p.Q206*			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGATTTTCTGATGCATCTTG	0.433000													51	71					0	0	0.000781405	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051318	38051318	+	Missense_Mutation	SNP	C	C	T	rs150670938		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:38051318C>T	ENST00000261439.4	+	11	2064	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F	TBC1D1_ENST00000508802.1_Missense_Mutation_p.S570F	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	570						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GAGGACCTGTCCAGTGACTCG	0.592000													26	34					0	0	0.000878237	0	0
STAT5B	6777	broad.mit.edu	37	17	40370323	40370323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:40370323G>A	ENST00000293328.3	-	9	1183	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	339					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	AGGACCTGAGGAGGCTGCTTC	0.612000													16	66					0	0	0.000958276	0	0
THAP9	79725	broad.mit.edu	37	4	83839111	83839111	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:83839111G>A	ENST00000302236.5	+	5	1797	c.1746G>A	c.(1744-1746)gaG>gaA	p.E582E	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	582							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TCAATGCTGAGAGCTTAAAAT	0.333000													17	16					0	0	0.000566183	0	0
SUGP2	10147	broad.mit.edu	37	19	19115180	19115180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:19115180G>A	ENST00000601879.1	-	7	3023	c.2726C>T	c.(2725-2727)cCt>cTt	p.P909L	SUGP2_ENST00000456085.2_Missense_Mutation_p.P678L|SUGP2_ENST00000337018.6_Missense_Mutation_p.P909L|SUGP2_ENST00000600377.1_Missense_Mutation_p.P923L|SUGP2_ENST00000452918.2_Missense_Mutation_p.P909L			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	909					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CGCCCCTCCAGGAGCGGGGGc	0.711000													7	10					0	0	0.000157383	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461797	50461797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:50461797G>A	ENST00000447370.2	-	8	1484	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F	SIGLEC11_ENST00000426971.2_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	465					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGCCTCCCAGGAGCAGGAGGG	0.701000													6	25					0	0	0.00198382	0	0
CABP1	9478	broad.mit.edu	37	12	121098548	121098548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:121098548G>A	ENST00000453000.1	+	4	1164	c.652G>A	c.(652-654)Gat>Aat	p.D218N	CABP1_ENST00000351200.2_Missense_Mutation_p.D79N|CABP1_ENST00000316803.3_Missense_Mutation_p.D282N|CABP1_ENST00000288616.3_Missense_Mutation_p.D139N			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	282						cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGCCATGTAGATTTTGATGA	0.502000													84	240					0	0	0.000781405	0	0
CACNA1G	8913	broad.mit.edu	37	17	48703398	48703398	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:48703398C>T	ENST00000352832.5	+	34	6411	c.6039C>T	c.(6037-6039)tcC>tcT	p.S2013S	CACNA1G_ENST00000514079.1_Silent_p.S2054S|CACNA1G_ENST00000360761.4_Silent_p.S2024S|CACNA1G_ENST00000507609.1_Silent_p.S2040S|CACNA1G_ENST00000429973.2_Silent_p.S2029S|CACNA1G_ENST00000354983.4_Silent_p.S2106S|CACNA1G_ENST00000442258.2_Silent_p.S2006S|CACNA1G_ENST00000507510.2_Silent_p.S2095S|CACNA1G_ENST00000515765.1_Silent_p.S2084S|CACNA1G_ENST00000507336.1_Silent_p.S2129S|CACNA1G_ENST00000515411.1_Silent_p.S2077S|CACNA1G_ENST00000510115.1_Silent_p.S2061S|CACNA1G_ENST00000358244.5_Silent_p.S2013S|CACNA1G_ENST00000503485.1_Silent_p.S2013S|CACNA1G_ENST00000514717.1_Silent_p.S1990S|CACNA1G_ENST00000505165.1_Silent_p.S2047S|CACNA1G_ENST00000513964.1_Silent_p.S2002S|CACNA1G_ENST00000512389.1_Silent_p.S2036S|CACNA1G_ENST00000510366.1_Silent_p.S1995S|CACNA1G_ENST00000502264.1_Silent_p.S2069S|CACNA1G_ENST00000359106.5_Silent_p.S2140S|CACNA1G_ENST00000514181.1_Silent_p.S2022S|CACNA1G_ENST00000507896.1_Silent_p.S2036S|CACNA1G_ENST00000515165.1_Silent_p.S2047S|CACNA1G_ENST00000513689.2_Silent_p.S2050S	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2140					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGACTGACTCCTTGGACGTTC	0.647000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	31					0	0	0.000589545	0	0
ZNF592	9640	broad.mit.edu	37	15	85326229	85326229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:85326229G>A	ENST00000299927.3	+	1	345	c.323G>A	c.(322-324)gGg>gAg	p.G108E	ZNF592_ENST00000560079.2_Missense_Mutation_p.G108E			Q92610	ZN592_HUMAN	zinc finger protein 592	108					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CACAACTGTGGGAAATTTGAT	0.507000													42	37					0	0	0.00170553	0	0
SCNN1G	6340	broad.mit.edu	37	16	23197754	23197754	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:23197754C>T	ENST00000300061.2	+	2	305	c.162C>T	c.(160-162)ctC>ctT	p.L54L		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	54					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGCGCCGCCTCCTCTGGATCG	0.607000													17	39					0	0	0.000958276	0	0
LYZL2	119180	broad.mit.edu	37	10	30901757	30901757	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:30901757T>A	ENST00000375318.2	-	4	565	c.509A>T	c.(508-510)aAc>aTc	p.N170I		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	124					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				TTACCAATAGTTCATTCCTTG	0.423000													12	38					0	0	0.00185496	0	0
SYNE1	23345	broad.mit.edu	37	6	152651188	152651188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:152651188C>T	ENST00000367255.5	-	78	15233	c.14632G>A	c.(14632-14634)Gaa>Aaa	p.E4878K	SYNE1_ENST00000265368.4_Missense_Mutation_p.E4878K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E4807K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E4625K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E4807K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4878					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTCACATTCTGTCACCGTC	0.537000										HNSCC(10;0.0054)			31	5					0	0	0.000692331	0	0
GPR115	221393	broad.mit.edu	37	6	47681990	47681990	+	Missense_Mutation	SNP	G	G	A	rs116696585	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:47681990G>A	ENST00000283303.2	+	6	1267	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	GPR115_ENST00000327753.3_Missense_Mutation_p.E337K|GPR115_ENST00000371220.1_Missense_Mutation_p.E394K	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	337					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E337>?(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ACTCACCTTCGAAAAGATCAA	0.453000													49	48					0	0	0.000781405	0	0
HLA-DPA1	3113	broad.mit.edu	37	6	33036820	33036820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:33036820C>T	ENST00000419277.1	-	4	733	c.604G>A	c.(604-606)Gac>Aac	p.D202N	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.D202N	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	202	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						AGCGGCTGGTCCAAGCCCCAG	0.532000													86	103					0	0	0.000781405	0	0
RSPO1	284654	broad.mit.edu	37	1	38079995	38079995	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:38079995G>A	ENST00000356545.2	-	6	1084	c.297C>T	c.(295-297)atC>atT	p.I99I	RSPO1_ENST00000401068.1_Silent_p.I99I|RSPO1_ENST00000401069.1_Silent_p.I99I|RSPO1_ENST00000401070.1_Silent_p.I99I|RSPO1_ENST00000373059.1_Silent_p.I72I|RSPO1_ENST00000401071.2_Silent_p.I99I	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	99					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACAGTGCTCGATCTTGCATT	0.577000													46	20					0	0	0.000781405	0	0
PSMC3	5702	broad.mit.edu	37	11	47444385	47444385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:47444385G>A	ENST00000298852.3	-	7	888	c.731C>T	c.(730-732)aCt>aTt	p.T244I	PSMC3_ENST00000530912.1_Missense_Mutation_p.T202I|PSMC3_ENST00000602866.1_Missense_Mutation_p.T228I	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	244					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACTCACCTTAGTCTGTGCGGC	0.587000													53	103					0	0	0.000781405	0	0
RPUSD2	27079	broad.mit.edu	37	15	40865983	40865983	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:40865983C>T	ENST00000315616.7	+	3	1199	c.1161C>T	c.(1159-1161)ccC>ccT	p.P387P	RPUSD2_ENST00000559271.1_Silent_p.P326P	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	387					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TCAACGACCCCATCTACAACT	0.597000													33	36					0	0	0.00058488	0	0
SLC16A7	9194	broad.mit.edu	37	12	60165124	60165124	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:60165124C>T	ENST00000261187.4	+	3	506	c.342C>T	c.(340-342)ctC>ctT	p.L114L	SLC16A7_ENST00000547379.1_Silent_p.L114L|SLC16A7_ENST00000543448.1_Silent_p.L15L|SLC16A7_ENST00000552432.1_Silent_p.L114L|SLC16A7_ENST00000552024.1_Silent_p.L114L	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	114						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	AGCTGTACCTCACTATGGGAT	0.423000													34	112					0	0	0.00111076	0	0
MGAM	8972	broad.mit.edu	37	7	141747669	141747669	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141747669G>A	ENST00000475668.2	+	22	2637	c.2583G>A	c.(2581-2583)acG>acA	p.T861T	MGAM_ENST00000549489.2_Silent_p.T861T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	861	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)	ATGGGGAAACGAAGGGTGAGC	0.458000													9	14					0	0	0.000274275	0	0
PRG2	5553	broad.mit.edu	37	11	57156618	57156618	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:57156618G>A	ENST00000311862.5	-	3	304	c.231C>T	c.(229-231)atC>atT	p.I77I	RP11-872D17.8_ENST00000529411.1_Silent_p.I182I|PRG2_ENST00000533605.1_Silent_p.I77I|PRG2_ENST00000525955.1_Silent_p.I77I	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCACTGAGATAGACTCAA	0.557000													79	41					0	0	0.000781405	0	0
FLG	2312	broad.mit.edu	37	1	152282637	152282637	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:152282637C>T	ENST00000368799.1	-	3	4760	c.4725G>A	c.(4723-4725)caG>caA	p.Q1575Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1575	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGGCCCACCTGTGAGTGTC	0.577000									Ichthyosis				115	70					0	0	0.000781405	0	0
SLC18A2	6571	broad.mit.edu	37	10	119013971	119013971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:119013971G>A	ENST00000298472.5	+	6	806	c.663G>A	c.(661-663)atG>atA	p.M221I	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	221					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GCAACGTCATGGGAATCGCCT	0.592000													29	6					0	0	0.00170553	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110464991	110464991	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:110464991C>T	ENST00000378402.5	+	43	6656	c.6552C>T	c.(6550-6552)ttC>ttT	p.F2184F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2184	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTCCAATTTCTCATGGGGGG	0.383000										HNSCC(38;0.096)			8	10					0	0	0.000274275	0	0
KPRP	448834	broad.mit.edu	37	1	152732973	152732973	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:152732973C>T	ENST00000368773.1	+	2	967	c.909C>T	c.(907-909)ccC>ccT	p.P303P	KPRP_ENST00000606109.1_Silent_p.P303P	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	303	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGAACCCATATATAACA	0.597000													11	36					0	0	0.000219431	0	0
WIPF2	147179	broad.mit.edu	37	17	38421226	38421226	+	Silent	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:38421226T>C	ENST00000323571.4	+	5	1038	c.798T>C	c.(796-798)tcT>tcC	p.S266S	WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000585043.1_Silent_p.S266S|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000583130.1_Silent_p.S266S|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	266						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						ATGGACCCTCTAGCCCCACTA	0.592000										HNSCC(43;0.11)			104	9					0	0	0.000781405	0	0
UBIAD1	29914	broad.mit.edu	37	1	11334047	11334047	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:11334047C>T	ENST00000376810.5	+	1	785	c.459C>T	c.(457-459)tcC>tcT	p.S153S	UBIAD1_ENST00000376804.2_Silent_p.S153S	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	153					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		ACTACCTGTCCCCTCTGAAAC	0.557000													43	11					0	0	0.000781405	0	0
RGS9BP	388531	broad.mit.edu	37	19	33167846	33167846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:33167846C>T	ENST00000334176.3	+	1	1534	c.677C>T	c.(676-678)gCc>gTc	p.A226V		NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	226					negative regulation of signal transduction	integral to membrane				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					GCGGCTGTGGCCCTAGCCGTG	0.706000													12	8					0	0	0.000308642	0	0
MORC1	27136	broad.mit.edu	37	3	108705748	108705748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:108705748C>T	ENST00000232603.5	-	22	2318	c.2236G>A	c.(2236-2238)Gaa>Aaa	p.E746K	MORC1_ENST00000483760.1_Missense_Mutation_p.E725K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	746					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGAGGAATTTCCTTTTTTTCT	0.279000													9	22					0	0	0.000442599	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838358	16838358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:16838358G>A	ENST00000355661.3	-	11	1865	c.1855C>T	c.(1855-1857)Cac>Tac	p.H619Y	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.H619Y|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.H619Y|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	619	Interaction with CTNND1.				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						TTGACAGCGTGGCCCCGTGCC	0.597000													19	43					0	0	0.00121646	0	0
SPG11	80208	broad.mit.edu	37	15	44865754	44865754	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:44865754G>A	ENST00000261866.7	-	32	6212	c.6196C>T	c.(6196-6198)Cag>Tag	p.Q2066*	SPG11_ENST00000427534.2_Nonsense_Mutation_p.Q2066*|SPG11_ENST00000558319.1_Nonsense_Mutation_p.Q2066*|SPG11_ENST00000535302.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2066					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCTGTTCCCTGTGATGAAGTA	0.527000													22	22					0	0	0.00188189	0	0
CSMD2	114784	broad.mit.edu	37	1	34052167	34052167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:34052167C>T	ENST00000373381.4	-	46	7164	c.6988G>A	c.(6988-6990)Gaa>Aaa	p.E2330K		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2332	Sushi 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCAGAATTTCATTCCCCACT	0.478000													48	23					0	0	0.000781405	0	0
ISX	91464	broad.mit.edu	37	22	35478537	35478537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:35478537C>T	ENST00000308700.6	+	2	1208	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	ISX_ENST00000404699.2_Missense_Mutation_p.R86C	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R86C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCGGAGGGTTCGTACCACCTT	0.557000													77	64					0	0	0.000781405	0	0
CBLN2	147381	broad.mit.edu	37	18	70205419	70205419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:70205419G>A	ENST00000269503.4	-	5	1440	c.667C>T	c.(667-669)Cct>Tct	p.P223S	CBLN2_ENST00000581073.1_Missense_Mutation_p.P109S|CBLN2_ENST00000585159.1_Missense_Mutation_p.P223S|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000584764.1_Missense_Mutation_p.P107S	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	223	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GTTTATAGAGGAAACACCAAG	0.507000													16	27					0	0	0.000566183	0	0
ZFP57	346171	broad.mit.edu	37	6	29640353	29640353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:29640353C>T	ENST00000376883.1	-	6	1886	c.1475G>A	c.(1474-1476)aGg>aAg	p.R492K	ZFP57_ENST00000376881.3_Missense_Mutation_p.R492K|ZFP57_ENST00000488757.1_Missense_Mutation_p.R512K			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	428					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GCCTCTTCTCCTGGGGGTATG	0.512000													48	56					0	0	0.000781405	0	0
TRANK1	9881	broad.mit.edu	37	3	36872628	36872628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:36872628C>T	ENST00000429976.2	-	21	8561	c.8314G>A	c.(8314-8316)Gag>Aag	p.E2772K	TRANK1_ENST00000428977.2_Missense_Mutation_p.E2222K|TRANK1_ENST00000301807.6_Missense_Mutation_p.E2222K			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2772					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.E2215*(1)|p.E2772*(1)|p.E2222*(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCGTAAGACTCGCTGTTCCTC	0.547000													32	85					0	0	0.00111076	0	0
CLEC4C	170482	broad.mit.edu	37	12	7882278	7882278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:7882278G>A	ENST00000542353.1	-	7	1046	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C	CLEC4C_ENST00000354629.5_Missense_Mutation_p.R155C|CLEC4C_ENST00000360345.3_Missense_Mutation_p.R186C|CLEC4C_ENST00000540085.1_Missense_Mutation_p.R155C	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	186	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TCTGAAGAACGGAAATTTATT	0.398000													18	45					0	0	0.00074312	0	0
NXF5	55998	broad.mit.edu	37	X	101096486	101096486	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:101096486C>T	ENST00000537026.1	-	6	644	c.285G>A	c.(283-285)aaG>aaA	p.K95K	NXF5_ENST00000361708.2_Silent_p.K95K|NXF5_ENST00000473265.2_Silent_p.K95K	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	95					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TCAACTTATTCTTCACAGAGT	0.473000													29	4					0	0	0.000814825	0	0
MAP3K19	80122	broad.mit.edu	37	2	135740892	135740892	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:135740892G>A	ENST00000392915.1	-	9	3402	c.3283C>T	c.(3283-3285)Caa>Taa	p.Q1095*	MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron					mitogen-activated protein kinase kinase kinase 19																		ctttcccattggacttgaacc	0.413000													36	43					0	0	0.000491102	0	0
NLRP13	126204	broad.mit.edu	37	19	56436372	56436372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:56436372G>A	ENST00000588751.1	-	2	373	c.349C>T	c.(349-351)Cca>Tca	p.P117S	NLRP13_ENST00000342929.3_Missense_Mutation_p.P117S			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	117							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCCTGGGTTGGATCTTGCAGC	0.443000													38	32					0	0	0.000781405	0	0
NOVA1	4857	broad.mit.edu	37	14	26917793	26917793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:26917793G>A	ENST00000539517.2	-	5	1213	c.896C>T	c.(895-897)gCc>gTc	p.A299V	NOVA1_ENST00000465357.2_Missense_Mutation_p.A275V|NOVA1_ENST00000267422.7_Missense_Mutation_p.A177V	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	302	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGCTGGAAAGGCTGCAACGCC	0.473000													25	26					0	0	0.000586117	0	0
SEPHS1	22929	broad.mit.edu	37	10	13380726	13380726	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:13380726G>A	ENST00000327347.5	-	3	651	c.276C>T	c.(274-276)atC>atT	p.I92I	SEPHS1_ENST00000545675.1_Silent_p.I92I|SEPHS1_ENST00000494329.1_5'UTR|SEPHS1_ENST00000378614.4_Silent_p.I92I|SEPHS1_ENST00000537130.1_Silent_p.I25I	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	92					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						GGTCGTCTACGATCGGGTAAA	0.463000													31	79					0	0	0.00058488	0	0
DSP	1832	broad.mit.edu	37	6	7569434	7569434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:7569434G>A	ENST00000379802.3	+	12	1776	c.1435G>A	c.(1435-1437)Ggg>Agg	p.G479R	DSP_ENST00000418664.2_Missense_Mutation_p.G479R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	479	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CGTGCATAAGGGGGATGAGTG	0.468000													32	116					0	0	0.000814825	0	0
C12orf54	121273	broad.mit.edu	37	12	48882737	48882737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:48882737G>A	ENST00000314014.2	+	5	297	c.166G>A	c.(166-168)Gag>Aag	p.E56K	RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548364.1_Missense_Mutation_p.E56K	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	56										endometrium(1)|large_intestine(4)	5						TATACAAAAGGAGGTGAGATT	0.368000													113	177					0	0	0.000781405	0	0
NRD1	4898	broad.mit.edu	37	1	52255268	52255268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:52255268C>T	ENST00000354831.7	-	32	3623	c.3434G>A	c.(3433-3435)gGg>gAg	p.G1145E	NRD1_ENST00000539524.1_Missense_Mutation_p.G1013E|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.G1077E	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	1076				DCIIPITDIRAFTTTLNLLPYHKIVK -> SVSSPLLISGL SQQHSTFSPTIK (in Ref. 1).	cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ACTTCCTGGCCCTCTATGGGC	0.418000													53	38					0	0	0.000781405	0	0
PCLO	27445	broad.mit.edu	37	7	82451921	82451921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:82451921C>T	ENST00000423517.2	-	20	15018	c.14681G>A	c.(14680-14682)gGa>gAa	p.G4894E	PCLO_ENST00000333891.8_Missense_Mutation_p.G4894E|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4756					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCGAGATGGTCCATGAGAACG	0.532000													284	90					0	0	0.000781405	0	0
OR4K13	390433	broad.mit.edu	37	14	20502436	20502436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:20502436G>A	ENST00000315693.2	-	1	483	c.482C>T	c.(481-483)gCt>gTt	p.A161V		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CAACATGAAAGCCATTTGACT	0.468000													91	108					0	0	0.000781405	0	0
C14orf159	80017	broad.mit.edu	37	14	91647628	91647628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:91647628C>T	ENST00000518868.1	+	11	1519	c.829C>T	c.(829-831)Cca>Tca	p.P277S	C14orf159_ENST00000412671.2_Missense_Mutation_p.P277S|C14orf159_ENST00000523771.1_Missense_Mutation_p.P272S|C14orf159_ENST00000522322.1_Missense_Mutation_p.P272S|C14orf159_ENST00000256324.10_Missense_Mutation_p.P277S|C14orf159_ENST00000521077.2_Missense_Mutation_p.P277S|C14orf159_ENST00000520328.1_Missense_Mutation_p.P260S|C14orf159_ENST00000525393.2_Missense_Mutation_p.P148S|C14orf159_ENST00000523816.1_Missense_Mutation_p.P272S|C14orf159_ENST00000428926.2_Missense_Mutation_p.P272S			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	272						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		AGAGAGAATTCCAGAGGTCCA	0.512000													18	44					0	0	0.00074312	0	0
MMP26	56547	broad.mit.edu	37	11	5012667	5012667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:5012667C>T	ENST00000380390.1	+	5	752	c.536C>T	c.(535-537)tCt>tTt	p.S179F	MMP26_ENST00000300762.1_Missense_Mutation_p.S179F			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	179					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTACCAAATTCTGGAAATCCT	0.478000													34	56					0	0	0.00209593	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905507	144905507	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:144905507A>G	ENST00000370490.1	+	1	5819	c.1564A>G	c.(1564-1566)Atc>Gtc	p.I522V	SLITRK2_ENST00000428560.2_Missense_Mutation_p.I522V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.I522V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.I522V|SLITRK2_ENST00000434188.2_Missense_Mutation_p.I522V			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	522						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCCGGCTTTCATCCAGATAGA	0.498000													22	5					0	0	0.00229938	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307836	140307836	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140307836C>T	ENST00000253807.2	+	1	1359	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.F453F|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018898.3	NP_061721.2												p.F453F(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAACTTTTCGTTGCTGAAA	0.532000													47	40					0	0	0.000781405	0	0
FAM209B	388799	broad.mit.edu	37	20	55111389	55111389	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:55111389G>A	ENST00000371325.1	+	2	507	c.411G>A	c.(409-411)atG>atA	p.M137I		NM_001013646.2	NP_001013668.2	Q5JX69	CT107_HUMAN	family with sequence similarity 209, member B	137						integral to membrane											AAGGTGCCATGGCAACAGGCA	0.423000													68	57					0	0	0.000781405	0	0
KLF17	128209	broad.mit.edu	37	1	44595237	44595237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:44595237G>A	ENST00000372299.3	+	2	352	c.294G>A	c.(292-294)atG>atA	p.M98I	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	98					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					AGCGTGGTATGAGCTACTGCC	0.567000													89	34					0	0	0.000781405	0	0
CCSER2	54462	broad.mit.edu	37	10	86131800	86131800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:86131800C>T	ENST00000224756.8	+	2	1177	c.992C>T	c.(991-993)tCt>tTt	p.S331F	CCSER2_ENST00000359979.4_Missense_Mutation_p.S331F|CCSER2_ENST00000372088.2_Missense_Mutation_p.S331F	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2																		TCTCCATTTTCTGGGACTATG	0.418000													57	11					0	0	0.000781405	0	0
ROR2	4920	broad.mit.edu	37	9	94499787	94499787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:94499787C>T	ENST00000375708.3	-	5	706	c.508G>A	c.(508-510)Gag>Aag	p.E170K	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.E30K	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	170	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AACCCATCCTCGTGGTAATCA	0.517000													25	5					0	0	0.00178596	0	0
CD276	80381	broad.mit.edu	37	15	73996076	73996076	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:73996076C>T	ENST00000318443.5	+	5	1112	c.810C>T	c.(808-810)ttC>ttT	p.F270F	CD276_ENST00000318424.5_Intron|CD276_ENST00000564751.1_Intron|CD276_ENST00000561213.1_Silent_p.F270F|CD276_ENST00000537340.2_Silent_p.F124F	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	270	Ig-like V-type 2.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GCTGCTCCTTCTCCCCCGAGC	0.672000													23	10					0	0	0.000720815	0	0
GRID2	2895	broad.mit.edu	37	4	93511296	93511296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:93511296G>A	ENST00000282020.4	+	2	361	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	GRID2_ENST00000510992.1_Missense_Mutation_p.E35K|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	35					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AATTTTTGATGAATCTGCCAA	0.368000													20	21					0	0	0.00188189	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79064033	79064033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:79064033C>T	ENST00000388820.4	-	15	2480	c.2270G>A	c.(2269-2271)tGg>tAg	p.W757*	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	757	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTCCCCGTTCCACTGGATGGT	0.627000													14	21					0	0	0.00121646	0	0
SLC5A7	60482	broad.mit.edu	37	2	108604612	108604612	+	Translation_Start_Site	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:108604612A>G	ENST00000264047.2	+	2	277	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SLC5A7_ENST00000409059.1_Start_Codon_SNP_p.M1V|SLC5A7_ENST00000540517.1_Intron	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	1					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTAGATAAAAATGGCTTTCCA	0.413000													14	71					0	0	0.000566183	0	0
GALNT10	55568	broad.mit.edu	37	5	153755896	153755896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:153755896C>T	ENST00000297107.6	+	5	765	c.628C>T	c.(628-630)Cga>Tga	p.R210*	GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_Nonsense_Mutation_p.R210*	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	210	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R210*(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GAGGATTCTTCGAACCAAGAA	0.502000													32	58					0	0	0.00178596	0	0
KLK6	5653	broad.mit.edu	37	19	51466678	51466678	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:51466678G>A	ENST00000376851.3	-	4	764	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	KLK6_ENST00000391808.1_Silent_p.L2L|KLK6_ENST00000310157.2_Silent_p.L109L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000594641.1_Silent_p.L109L|KLK6_ENST00000456750.2_Silent_p.L2L|KLK6_ENST00000376853.4_Intron	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	109	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		AGGCGCAACAGCATGATGTCC	0.597000													57	13					0	0	0.000781405	0	0
NEFL	4747	broad.mit.edu	37	8	24811210	24811210	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:24811210G>A	ENST00000221169.5	-	0	1863							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AACCGCCGTAGGCAGATCGGC	0.567000													21	38					0	0	0.00229938	0	0
FGD6	55785	broad.mit.edu	37	12	95604944	95604944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:95604944G>A	ENST00000343958.4	-	2	339	c.116C>T	c.(115-117)tCt>tTt	p.S39F	FGD6_ENST00000546711.1_Missense_Mutation_p.S39F|FGD6_ENST00000549499.1_Missense_Mutation_p.S39F	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	39					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TGGAACACTAGAAATCACAAT	0.483000													127	86					0	0	0.000781405	0	0
ANK2	287	broad.mit.edu	37	4	114276414	114276414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:114276414C>T	ENST00000357077.4	+	38	6693	c.6640C>T	c.(6640-6642)Ccg>Tcg	p.P2214S	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P2181S|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2181					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGCCGGCTCTCCGTGTGGCAG	0.517000													36	43					0	0	0.00128727	0	0
ST18	9705	broad.mit.edu	37	8	53044633	53044633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:53044633G>A	ENST00000276480.7	-	22	3234	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	851						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCATTGAGAGGATTCTCCTTC	0.498000													25	38					0	0	0.000720815	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1818312	1818312	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:1818312C>T	ENST00000250894.4	+	30	3829	c.3672C>T	c.(3670-3672)tcC>tcT	p.S1224S	MAPK8IP3_ENST00000356010.5_Silent_p.S1218S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1224					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCTACTGCTCCATGGCCCAGG	0.662000													31	66					0	0	0.000491102	0	0
DSCAM	1826	broad.mit.edu	37	21	41684257	41684257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:41684257G>A	ENST00000400454.1	-	9	2290	c.1813C>T	c.(1813-1815)Cca>Tca	p.P605S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	605	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAGAATCTTGGAAACTCAAAG	0.468000													13	18					0	0	0.00185496	0	0
DDX23	9416	broad.mit.edu	37	12	49233800	49233800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:49233800G>A	ENST00000308025.3	-	4	489	c.410C>T	c.(409-411)cCt>cTt	p.P137L	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	137	Glu-rich.			P -> L (in Ref. 1; AAB87902).		catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CTTTACCTTAGGCTTCTTATC	0.393000													150	184					0	0	0.000781405	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650499	94650499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:94650499C>T	ENST00000260526.6	-	18	2220	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	680	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCATCTGGTTCCTTTTTTGCA	0.318000													19	74					0	0	0.000958276	0	0
CDCA7L	55536	broad.mit.edu	37	7	21942717	21942717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:21942717G>A	ENST00000406877.3	-	9	1492	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S	CDCA7L_ENST00000373934.4_Missense_Mutation_p.P359S|CDCA7L_ENST00000356195.5_Missense_Mutation_p.P371S	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	405					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CCACGACAGGGGGGACACACC	0.517000													12	29					0	0	0.000219431	0	0
DNMT3A	1788	broad.mit.edu	37	2	25462016	25462016	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:25462016G>A	ENST00000264709.3	-	20	2728	c.2391C>T	c.(2389-2391)aaC>aaT	p.N797N	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Silent_p.N574N|DNMT3A_ENST00000380746.4_Silent_p.N608N|DNMT3A_ENST00000321117.5_Silent_p.N797N	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	797					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACCGGGAAGGTTACCCCAGA	0.582000			"""Mis, F, N, S"""		AML								18	12					0	0	0.00074312	0	0
CRP	1401	broad.mit.edu	37	1	159683350	159683350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:159683350C>T	ENST00000255030.5	-	2	743	c.640G>A	c.(640-642)Ggc>Agc	p.G214S	CRP_ENST00000437342.1_Missense_Mutation_p.G36S|CRP_ENST00000368112.1_Missense_Mutation_p.G81S|CRP_ENST00000343919.2_Missense_Mutation_p.G92S|CRP_ENST00000368111.1_Missense_Mutation_p.G92S|CRP_ENST00000368110.1_Missense_Mutation_p.G92S|CRP_ENST00000473196.1_5'UTR	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	214	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	p.G214C(1)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	AACACTTCGCCTTGCACTTCA	0.557000													20	47					0	0	0.000958276	0	0
SCN10A	6336	broad.mit.edu	37	3	38750978	38750978	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:38750978C>T	ENST00000449082.2	-	24	4271	c.4272G>A	c.(4270-4272)caG>caA	p.Q1424Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1424					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)	TCTTTTTTTTCTGTTGATTGA	0.413000													42	25					0	0	0.000781405	0	0
ZNF224	7767	broad.mit.edu	37	19	44611150	44611150	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:44611150G>A	ENST00000336976.6	+	6	1091	c.837G>A	c.(835-837)caG>caA	p.Q279Q	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	279					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				AAGAACATCAGAGAATCCATA	0.423000													23	35					0	0	0.00229938	0	0
ZNF562	54811	broad.mit.edu	37	19	9763879	9763879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9763879G>A	ENST00000448622.1	-	6	1189	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	ZNF562_ENST00000537617.1_Missense_Mutation_p.P227S|ZNF562_ENST00000590155.1_Missense_Mutation_p.P342S|ZNF562_ENST00000541032.1_Missense_Mutation_p.P306S|ZNF562_ENST00000293648.4_Missense_Mutation_p.P271S|ZNF562_ENST00000453792.2_Missense_Mutation_p.P274S|ZNF562_ENST00000453372.2_Missense_Mutation_p.P343S	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						CATTCATAGGGTTTTATTCCA	0.428000													36	66					0	0	0.00111076	0	0
USP19	10869	broad.mit.edu	37	3	49154881	49154881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:49154881G>A	ENST00000417901.1	-	5	783	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S	USP19_ENST00000434032.2_Missense_Mutation_p.P199S|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398888.2_Missense_Mutation_p.P199S|USP19_ENST00000398892.3_Missense_Mutation_p.P137S|USP19_ENST00000398898.2_Missense_Mutation_p.P137S|USP19_ENST00000453664.1_Intron|USP19_ENST00000398896.1_Missense_Mutation_p.P5S			O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	199	CS 1.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGAGGGAGGGCCACGTGAGC	0.522000													33	6					0	0	0.000814825	0	0
SLC35F2	54733	broad.mit.edu	37	11	107677459	107677459	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:107677459C>T	ENST00000525071.1	-	7	1146	c.558G>A	c.(556-558)ggG>ggA	p.G186G	SLC35F2_ENST00000429869.1_Silent_p.G186G|SLC35F2_ENST00000525815.1_Silent_p.G186G|SLC35F2_ENST00000375682.4_Silent_p.G139G|SLC35F2_ENST00000265836.7_Silent_p.G38G			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	186					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		TGTCTTCCCTCCCTGCTAGTA	0.418000													34	9					0	0	0.00170553	0	0
ABCA6	23460	broad.mit.edu	37	17	67084318	67084318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:67084318G>A	ENST00000284425.2	-	28	3862	c.3688C>T	c.(3688-3690)Cct>Tct	p.P1230S	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1230					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTGAAAACAGGATCTTTTCGC	0.323000													18	18					0	0	0.00152264	0	0
ZNF486	90649	broad.mit.edu	37	19	20308600	20308600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:20308600C>T	ENST00000335117.8	+	4	1138	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AGCCTTCACCCGCTCCTCACA	0.428000													23	19					0	0	0.000586117	0	0
MCF2L2	23101	broad.mit.edu	37	3	182897272	182897272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:182897272C>T	ENST00000328913.3	-	30	3538	c.3241G>A	c.(3241-3243)Gag>Aag	p.E1081K	MCF2L2_ENST00000473233.1_3'UTR	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1081					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCGCGCTCCTCCTCGGTGCTG	0.687000													12	9					0	0	0.000978159	0	0
RANBP17	64901	broad.mit.edu	37	5	170668034	170668034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:170668034G>A	ENST00000523189.1	+	23	2689	c.2525G>A	c.(2524-2526)tGt>tAt	p.C842Y	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	842					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTGCCTTGTGTGGAAATTAT	0.448000			T	TRD@	ALL								69	149					0	0	0.000781405	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994871	140994871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:140994871C>T	ENST00000285879.4	+	4	1967	c.1681C>T	c.(1681-1683)Cct>Tct	p.P561S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	561							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCTATCTCCTCACTACTT	0.572000										HNSCC(15;0.026)			89	22					0	0	0.000781405	0	0
UACA	55075	broad.mit.edu	37	15	70959686	70959686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:70959686G>A	ENST00000322954.6	-	16	3522	c.3337C>T	c.(3337-3339)Cca>Tca	p.P1113S	UACA_ENST00000560441.1_Missense_Mutation_p.P1098S|UACA_ENST00000539319.1_Missense_Mutation_p.P1004S|UACA_ENST00000379983.2_Missense_Mutation_p.P1100S	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1113						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TGTTCCAATGGAACATGTTGT	0.373000													47	94					0	0	0.000781405	0	0
MYLK	4638	broad.mit.edu	37	3	123419583	123419583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:123419583G>A	ENST00000360772.3	-	19	3110	c.2732C>T	c.(2731-2733)tCg>tTg	p.S911L	MYLK_ENST00000359169.1_Missense_Mutation_p.S911L|MYLK_ENST00000346322.5_Missense_Mutation_p.S842L|MYLK_ENST00000360304.3_Missense_Mutation_p.S911L|MYLK_ENST00000475616.1_Missense_Mutation_p.S911L			Q15746	MYLK_HUMAN	myosin light chain kinase	911	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTCGTCTTCCGATAGGGTCTT	0.582000													59	43					0	0	0.000781405	0	0
ZNF682	91120	broad.mit.edu	37	19	20117385	20117385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:20117385C>T	ENST00000397165.2	-	4	1086	c.926G>A	c.(925-927)gGa>gAa	p.G309E	ZNF682_ENST00000597972.1_Missense_Mutation_p.G315E|ZNF682_ENST00000595736.1_Missense_Mutation_p.G233E|ZNF682_ENST00000358523.5_Missense_Mutation_p.G277E|ZNF682_ENST00000397162.1_Missense_Mutation_p.G277E|ZNF682_ENST00000596019.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						GGGTTTCTTTCCAGTGTGAAT	0.403000													50	46					0	0	0.000781405	0	0
MARCO	8685	broad.mit.edu	37	2	119699879	119699879	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:119699879G>A	ENST00000327097.4	+	1	138	c.3G>A	c.(1-3)atG>atA	p.M1I	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	1					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GCTTGGCAATGAGAAATAAGA	0.458000													17	17					0	0	0.000422831	0	0
MGAM	8972	broad.mit.edu	37	7	141752244	141752244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141752244G>A	ENST00000475668.2	+	25	3010	c.2956G>A	c.(2956-2958)Gag>Aag	p.E986K	MGAM_ENST00000549489.2_Missense_Mutation_p.E986K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	986	P-type 2.				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)	CTGTATCTGGGAGGTAACCAT	0.433000													7	41					0	0	0.000442599	0	0
CCPG1	9236	broad.mit.edu	37	15	55664196	55664196	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:55664196G>A	ENST00000310958.6	-	6	799	c.501C>T	c.(499-501)acC>acT	p.T167T	CCPG1_ENST00000425574.3_Silent_p.T167T|CCPG1_ENST00000442196.3_Silent_p.T167T|CCPG1_ENST00000569205.1_Silent_p.T167T|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	167	Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GCTGATTACTGGTTTCATCAC	0.418000													20	35					0	0	0.00121646	0	0
AP3B2	8120	broad.mit.edu	37	15	83334244	83334244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:83334244C>T	ENST00000261722.3	-	16	2143	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.E614K|AP3B2_ENST00000535359.1_Missense_Mutation_p.E646K	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	646	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGGGCTTCCTCCGGCCAGTCT	0.592000													35	83					0	0	0.00148497	0	0
AGO1	26523	broad.mit.edu	37	1	36360795	36360795	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:36360795C>T	ENST00000373204.4	+	8	1158	c.945C>T	c.(943-945)aaC>aaT	p.N315N	AGO1_ENST00000373206.1_Silent_p.N240N	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		AGAAATATAACCTTCAGCTCA	0.502000													18	49					0	0	0.00074312	0	0
CCT7	10574	broad.mit.edu	37	2	73474974	73474974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:73474974C>T	ENST00000539919.1	+	8	942	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	CCT7_ENST00000537131.1_Missense_Mutation_p.P135S|CCT7_ENST00000398422.2_Missense_Mutation_p.P31S|CCT7_ENST00000540468.1_Missense_Mutation_p.P148S|CCT7_ENST00000258091.5_Missense_Mutation_p.P235S|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000538797.1_Missense_Mutation_p.P107S	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	235					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GTACCACAATCCCAAGATTGC	0.433000													27	28					0	0	0.000878237	0	0
PSD2	84249	broad.mit.edu	37	5	139189215	139189215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:139189215C>T	ENST00000274710.3	+	2	395	c.190C>T	c.(190-192)Cca>Tca	p.P64S		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	64					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGAAGGACCCAGATGTGGC	0.627000													21	48					0	0	0.00047179	0	0
ZNF197	10168	broad.mit.edu	37	3	44684197	44684197	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:44684197C>T	ENST00000396058.1	+	5	1742	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Silent_p.L525L|ZNF197_ENST00000383745.2_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	525					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGAAGAGCCTCATTCTGCACC	0.423000													76	41					0	0	0.000781405	0	0
ADAM30	11085	broad.mit.edu	37	1	120438567	120438567	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:120438567C>T	ENST00000369400.1	-	1	551	c.393G>A	c.(391-393)ggG>ggA	p.G131G		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	131					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CTCGGAGACCCCCCATGCATG	0.463000													169	553					0	0	0.000781405	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671178	112671178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:112671178C>T	ENST00000441065.2	+	3	580	c.268C>T	c.(268-270)Ctc>Ttc	p.L90F	RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	90	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GAGGGAGGAGCTCCGGCATTT	0.522000													35	3					0	0	0.000953801	0	0
SCRN1	9805	broad.mit.edu	37	7	29966239	29966239	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:29966239G>T	ENST00000426154.1	-	7	1091	c.915C>A	c.(913-915)ttC>ttA	p.F305L	SCRN1_ENST00000242059.5_Missense_Mutation_p.F305L|SCRN1_ENST00000409497.1_Missense_Mutation_p.F305L|SCRN1_ENST00000416113.2_Missense_Mutation_p.F131L	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	305					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TGAAAGGCTTGAATATGGACC	0.512000													27	34					4.22769e-11	2.02908e-10	0.00106085	1	0
XRN2	22803	broad.mit.edu	37	20	21311265	21311265	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:21311265C>T	ENST00000377191.3	+	6	593	c.498C>T	c.(496-498)ttC>ttT	p.F166F	XRN2_ENST00000539513.1_Silent_p.F112F|XRN2_ENST00000430571.2_Silent_p.F90F	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	166					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GAACTGAATTCATGGACAATC	0.328000													11	48					0	0	0.000673444	0	0
AHNAK	79026	broad.mit.edu	37	11	62298472	62298472	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:62298472G>A	ENST00000378024.4	-	5	3691	c.3417C>T	c.(3415-3417)ctC>ctT	p.L1139L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1139					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTCGCCTTTGAGGCTGGGCA	0.532000													88	60					0	0	0.000781405	0	0
TPRA1	131601	broad.mit.edu	37	3	127294631	127294631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:127294631G>A	ENST00000355552.3	-	8	1007	c.631C>T	c.(631-633)Ctt>Ttt	p.L211F	TPRA1_ENST00000489960.1_Missense_Mutation_p.L211F|TPRA1_ENST00000450633.2_Missense_Mutation_p.L211F|TPRA1_ENST00000296210.7_Intron	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	211					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						GTCTTGGGAAGGATGACCACC	0.647000													34	48					0	0	0.00195071	0	0
NMUR1	10316	broad.mit.edu	37	2	232389986	232389986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:232389986G>A	ENST00000305141.4	-	3	1182	c.1049C>T	c.(1048-1050)gCg>gTg	p.A350V		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	350					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGGGTTGGCCGCCGAGCCCAG	0.652000													46	53					0	0	0.000781405	0	0
KIAA0430	9665	broad.mit.edu	37	16	15702213	15702213	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:15702213G>A	ENST00000396368.3	-	21	4323	c.4117C>T	c.(4117-4119)Cgt>Tgt	p.R1373C	KIAA0430_ENST00000602337.1_Missense_Mutation_p.R1370C|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R1208C|KIAA0430_ENST00000551742.1_Missense_Mutation_p.R1373C|KIAA0430_ENST00000344181.3_Missense_Mutation_p.R975C|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R1370C	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1372						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCTTGGAGACGAAATGTATAA	0.363000													28	48					0	0	0.001512	0	0
TLE2	7089	broad.mit.edu	37	19	3002402	3002402	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:3002402G>A	ENST00000262953.6	-	18	2258	c.1996C>T	c.(1996-1998)Cag>Tag	p.Q666*	TLE2_ENST00000426948.2_Nonsense_Mutation_p.Q680*|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Nonsense_Mutation_p.Q544*|TLE2_ENST00000447365.2_Nonsense_Mutation_p.Q333*|TLE2_ENST00000591529.1_Nonsense_Mutation_p.Q680*|TLE2_ENST00000590536.1_Nonsense_Mutation_p.Q667*|TLE2_ENST00000443826.3_Nonsense_Mutation_p.Q544*	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	666					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGCAGCTGGTATTTCTCC	0.607000													18	6					0	0	0.00121646	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562319	32562319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:32562319C>T	ENST00000345122.3	+	2	2759	c.2444C>T	c.(2443-2445)tCc>tTc	p.S815F	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.S815F|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.S815F|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.S815F	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	815					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CAGAATAATTCCCTAATGCTT	0.383000													46	35					0	0	0.000781405	0	0
FAM163A	148753	broad.mit.edu	37	1	179783223	179783223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:179783223C>T	ENST00000341785.4	+	5	799	c.403C>T	c.(403-405)Cca>Tca	p.P135S		NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	135						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						GGGGGGACCCCCATCCCTCAA	0.587000													44	34					0	0	0.000509022	0	0
DGCR8	54487	broad.mit.edu	37	22	20094149	20094149	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:20094149G>C	ENST00000351989.3	+	11	2353	c.1924G>C	c.(1924-1926)Gaa>Caa	p.E642Q	DGCR8_ENST00000383024.2_Missense_Mutation_p.E609Q|DGCR8_ENST00000407755.1_Missense_Mutation_p.E609Q	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	642	DRBM 2.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				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)					TATCAAGTTTGAAGTGGTTCC	0.537000													24	45					0	0	0.000720815	0	0
ZNF462	58499	broad.mit.edu	37	9	109694806	109694806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:109694806C>T	ENST00000277225.5	+	5	6381	c.6092C>T	c.(6091-6093)tCg>tTg	p.S2031L	ZNF462_ENST00000441147.2_Missense_Mutation_p.S937L|ZNF462_ENST00000457913.1_Missense_Mutation_p.S2091L|ZNF462_ENST00000497489.1_3'UTR			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2031					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGTATTGCTCGTTTGTTTCT	0.522000													31	1					0	0	0.000692331	0	0
SZT2	23334	broad.mit.edu	37	1	43893239	43893239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:43893239C>T	ENST00000562955.1	+	25	3466	c.3466C>T	c.(3466-3468)Cgt>Tgt	p.R1156C	SZT2_ENST00000372442.1_Missense_Mutation_p.R314C	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1213						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCCACCATTCCGTCGAGACTT	0.557000													30	106					0	0	0.00058488	0	0
PCNX	22990	broad.mit.edu	37	14	71575703	71575703	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:71575703C>T	ENST00000304743.2	+	34	7130	c.6684C>T	c.(6682-6684)aaC>aaT	p.N2228N	PCNX_ENST00000439984.3_Silent_p.N2117N|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Silent_p.N2156N	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2228						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGCCAGGCAACACCTTAAGTC	0.512000													21	48					0	0	0.000375601	0	0
ITGAX	3687	broad.mit.edu	37	16	31392265	31392265	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:31392265C>T	ENST00000268296.4	+	29	3445	c.3324C>T	c.(3322-3324)ctC>ctT	p.L1108L	ITGAX_ENST00000562522.1_Silent_p.L1108L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1108					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCACCCCCCTCATCGTAGGCA	0.547000													35	35					0	0	0.00148497	0	0
SLC39A11	201266	broad.mit.edu	37	17	70845886	70845886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:70845886G>A	ENST00000542342.2	-	6	597	c.509C>T	c.(508-510)cCa>cTa	p.P170L	SLC39A11_ENST00000579732.1_Missense_Mutation_p.P163L|SLC39A11_ENST00000255559.3_Missense_Mutation_p.P163L	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	170					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AGGACCCTCTGGAAGGCCAGT	0.542000													16	64					0	0	0.00152264	0	0
IL1RL1	9173	broad.mit.edu	37	2	102958747	102958747	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:102958747G>A	ENST00000311734.2	+	6	1014	c.675G>A	c.(673-675)gtG>gtA	p.V225V	IL1RL1_ENST00000409584.1_Silent_p.V225V|IL1RL1_ENST00000404917.2_Silent_p.V108V|IL1RL1_ENST00000233954.1_Silent_p.V225V			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	225	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TAAAGGAAGTGGAAATTGGTA	0.378000													37	50					0	0	0.00195071	0	0
CNTN1	1272	broad.mit.edu	37	12	41463829	41463829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:41463829G>A	ENST00000551295.2	+	24	3166	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	CNTN1_ENST00000347616.1_Missense_Mutation_p.E1017K|CNTN1_ENST00000348761.2_Missense_Mutation_p.E1006K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	1017					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGTCTACTTGGAATTCTGAAT	0.498000													31	28					0	0	0.00128727	0	0
NBPF14	25832	broad.mit.edu	37	1	148004557	148004557	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:148004557G>A	ENST00000369219.1	-	22	2773	c.2757C>T	c.(2755-2757)ttC>ttT	p.F919F				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	919	NBPF 10.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CTTATTGTGGGAATATGACTC	0.463000													29	360					0	0	0.000781405	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147620	6147620	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:6147620G>A	ENST00000588304.1	+	3	527	c.81G>A	c.(79-81)aaG>aaA	p.K27K	ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000252669.5_Silent_p.K77K|ACSBG2_ENST00000586696.1_Silent_p.K77K|ACSBG2_ENST00000591403.1_Silent_p.K77K			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	77					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGGCAAAAAGTGGGAAATTC	0.443000													45	135					0	0	0.000781405	0	0
CORO7	79585	broad.mit.edu	37	16	4411374	4411374	+	Missense_Mutation	SNP	G	G	A	rs147901888		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:4411374G>A	ENST00000251166.4	-	17	1820	c.1675C>T	c.(1675-1677)Cgc>Tgc	p.R559C	CORO7_ENST00000423908.2_3'UTR|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R559C|CORO7_ENST00000574025.1_Missense_Mutation_p.R474C|CORO7_ENST00000537233.2_Missense_Mutation_p.R541C|CORO7_ENST00000539968.1_Missense_Mutation_p.R339C	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						ACAGCGAGGCGATGGGGGTCA	0.667000													16	48					0	0	0.000958276	0	0
TRPM2	7226	broad.mit.edu	37	21	45786723	45786723	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:45786723G>A	ENST00000397928.1	+	4	955	c.510G>A	c.(508-510)ttG>ttA	p.L170L	TRPM2_ENST00000397932.2_Silent_p.L170L|TRPM2_ENST00000300481.9_Silent_p.L170L|TRPM2_ENST00000300482.5_Silent_p.L170L	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	170						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCAATCTCTTGATCTCGGTGA	0.602000													33	44					0	0	0.000692331	0	0
C1orf168	199920	broad.mit.edu	37	1	57219538	57219538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:57219538C>T	ENST00000343433.6	-	8	1281	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	401										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GAATATGGTTCCTTTTCTGTG	0.353000													30	23					0	0	0.00209593	0	0
FNDC3B	64778	broad.mit.edu	37	3	172016555	172016555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:172016555C>T	ENST00000336824.4	+	9	1138	c.1039C>T	c.(1039-1041)Cca>Tca	p.P347S	FNDC3B_ENST00000415807.2_Missense_Mutation_p.P347S|FNDC3B_ENST00000416957.1_Missense_Mutation_p.P347S	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	347	Fibronectin type-III 1.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGATCTTAGACCAGCAACAGA	0.358000													37	81					0	0	0.00222228	0	0
LHX9	56956	broad.mit.edu	37	1	197889293	197889293	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:197889293G>A	ENST00000367390.3	+	3	366	c.339G>A	c.(337-339)gaG>gaA	p.E113E	LHX9_ENST00000367387.4_Silent_p.E122E|LHX9_ENST00000367391.1_Silent_p.E113E|LHX9_ENST00000561173.1_Silent_p.E128E|LHX9_ENST00000337020.2_Silent_p.E122E	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	122	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						ACTGCAAGGAGGATTACTACA	0.577000													27	84					0	0	0.0024448	0	0
CCDC146	57639	broad.mit.edu	37	7	76924180	76924180	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:76924180C>T	ENST00000285871.4	+	19	2992	c.2865C>T	c.(2863-2865)atC>atT	p.I955I	CCDC146_ENST00000431197.1_Silent_p.I669I|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	955										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)				CAGTTGAAATCTGAATATGTG	0.403000													12	27					0	0	0.00185496	0	0
ZNF812	729648	broad.mit.edu	37	19	9801900	9801900	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9801900C>T	ENST00000457674.2	-	5	797	c.279G>A	c.(277-279)gaG>gaA	p.E93E	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	93	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CACTGAAGACCTCTCCACAAT	0.398000													15	16					0	0	0.000958276	0	0
POU2F3	25833	broad.mit.edu	37	11	120180244	120180244	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:120180244C>T	ENST00000260264.4	+	10	1057	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	POU2F3_ENST00000543440.2_Silent_p.I339I	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	339					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		AGAAGCGAATCAACTGCCCTG	0.567000													13	6					0	0	0.000219431	0	0
AMER3	205147	broad.mit.edu	37	2	131519766	131519766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:131519766C>T	ENST00000423981.1	+	2	231	c.121C>T	c.(121-123)Cca>Tca	p.P41S	AMER3_ENST00000321420.4_Missense_Mutation_p.P41S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GTCAGTCCTTCCAGGAGGGCA	0.647000													4	8					0	0	0.000602214	0	0
KRT74	121391	broad.mit.edu	37	12	52963677	52963677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:52963677C>T	ENST00000549343.1	-	6	1138	c.1100G>A	c.(1099-1101)aGg>aAg	p.R367K	KRT74_ENST00000305620.2_Missense_Mutation_p.R367K			Q7RTS7	K2C74_HUMAN	keratin 74	367	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		ACACCGGATCCTCTGGATGAG	0.602000													23	58					0	0	0.00047179	0	0
CABIN1	23523	broad.mit.edu	37	22	24573578	24573578	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:24573578C>T	ENST00000398319.2	+	36	6697	c.6312C>T	c.(6310-6312)ccC>ccT	p.P2104P	CABIN1_ENST00000405822.2_Silent_p.P2025P|CABIN1_ENST00000337989.7_Silent_p.P474P|CABIN1_ENST00000263119.5_Silent_p.P2104P	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2104					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCAAGGCCCCCAGCAGTGGGA	0.667000													43	32					0	0	0.000680045	0	0
LCE1E	353135	broad.mit.edu	37	1	152760030	152760030	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:152760030C>T	ENST00000368770.3	+	2	308	c.255C>T	c.(253-255)tcC>tcT	p.S85S	LCE1E_ENST00000368771.1_Silent_p.S85S	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	85	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCACAGGTCCCACCGTCACA	0.697000													19	55					0	0	0.00121646	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799767	159799767	+	Missense_Mutation	SNP	G	G	A	rs140969397		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:159799767G>A	ENST00000289707.5	+	2	301	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	51						integral to membrane		p.R51Q(1)		endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GCTATCTGGCGATCTCTCTGG	0.612000													72	127					0	0	0.000781405	0	0
ACTB	60	broad.mit.edu	37	7	5568857	5568857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:5568857C>T	ENST00000331789.5	-	3	489	c.298G>A	c.(298-300)Gag>Aag	p.E100K		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	100					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		ACGGGGTGCTCCTCGGGAGCC	0.627000													35	38					0	0	0.000814825	0	0
CDYL2	124359	broad.mit.edu	37	16	80718715	80718715	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:80718715G>A	ENST00000299564.8	-	2	491	c.336C>T	c.(334-336)ccC>ccT	p.P112P	CDYL2_ENST00000562812.1_Silent_p.P112P|CDYL2_ENST00000566173.1_Silent_p.P112P|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000563890.1_Silent_p.P112P	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	112						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GCTTGGCCAGGGGAGGGTTAA	0.547000													14	29					0	0	0.00185496	0	0
UMOD	7369	broad.mit.edu	37	16	20355393	20355393	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:20355393G>A	ENST00000396134.2	-	7	1506	c.1383C>T	c.(1381-1383)ccC>ccT	p.P461P	UMOD_ENST00000570689.1_Silent_p.P428P|UMOD_ENST00000424589.1_Silent_p.P461P|UMOD_ENST00000396138.4_Silent_p.P477P|UMOD_ENST00000396142.2_Silent_p.P428P|UMOD_ENST00000302509.4_Silent_p.P428P	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	428	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCATGTCCAGGGGGTAGGAGC	0.537000													19	34					0	0	0.00121646	0	0
ADAM30	11085	broad.mit.edu	37	1	120438381	120438381	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:120438381C>T	ENST00000369400.1	-	1	737	c.579G>A	c.(577-579)agG>agA	p.R193R		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	193					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CAGGAAAGTCCCTTAGCCTCG	0.408000													174	553					0	0	0.000781405	0	0
ZNF785	146540	broad.mit.edu	37	16	30594028	30594028	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:30594028G>A	ENST00000395216.2	-	3	1230	c.1071C>T	c.(1069-1071)gcC>gcT	p.A357A	ZNF785_ENST00000470110.1_Silent_p.A342A|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						TCCACCGATGGGCTTCCAGGG	0.667000													61	31					0	0	0.000781405	0	0
TCF20	6942	broad.mit.edu	37	22	42609063	42609063	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:42609063G>T	ENST00000359486.3	-	1	2385	c.2249C>A	c.(2248-2250)cCa>cAa	p.P750Q	TCF20_ENST00000335626.4_Missense_Mutation_p.P750Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	750					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CAGGAGGCTTGGGAATTTTTC	0.502000													6	132					0.000274275	0.00130221	0.000274275	1	0
TFR2	7036	broad.mit.edu	37	7	100229759	100229759	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:100229759G>A	ENST00000462107.1	-	8	1199	c.912C>T	c.(910-912)ttC>ttT	p.F304F	TFR2_ENST00000223051.3_Silent_p.F304F|TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000431692.1_Intron			Q9UP52	TFR2_HUMAN	transferrin receptor 2	304					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGTCCTGGGAGAAGTCCGCTG	0.602000													48	96					0	0	0.000781405	0	0
TRIM11	81559	broad.mit.edu	37	1	228582770	228582770	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:228582770A>G	ENST00000493030.2	-	5	4377	c.668T>C	c.(667-669)gTt>gCt	p.V223A	TRIM11_ENST00000284551.6_Missense_Mutation_p.V348A|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR			Q96F44	TRI11_HUMAN	tripartite motif containing 11	348					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GCGGTCCCCAACCTCCACCTC	0.697000													15	17					0	0	0.000308642	0	0
SSTR3	6753	broad.mit.edu	37	22	37603068	37603068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:37603068C>T	ENST00000328544.3	-	2	1308	c.775G>A	c.(775-777)Gtg>Atg	p.V259M	SSTR3_ENST00000402501.1_Missense_Mutation_p.V259M	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	259					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						ACGGCCACCACCATGCGCGTG	0.672000													52	47					0	0	0.000781405	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010865	59010865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:59010865G>A	ENST00000263093.2	-	7	1770	c.1661C>T	c.(1660-1662)aCc>aTc	p.T554I	SLC27A5_ENST00000601355.1_Missense_Mutation_p.T470I	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GGACCGGAAGGTGTCCCCGAG	0.657000													18	58					0	0	0.00121646	0	0
UGT1A9	54600	broad.mit.edu	37	2	234580754	234580754	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:234580754C>T	ENST00000354728.4	+	1	256	c.174C>T	c.(172-174)gtC>gtT	p.V58V	UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		TGGTTGTAGTCATGCCAGAGG	0.522000													42	43					0	0	0.00170553	0	0
FAM169A	26049	broad.mit.edu	37	5	74130379	74130379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:74130379C>T	ENST00000389156.4	-	5	452	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	FAM169A_ENST00000380515.3_Intron|FAM169A_ENST00000510496.1_Missense_Mutation_p.R121Q	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	121										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						ATAAATAATTCGATTCAGAAC	0.408000													18	22					0	0	0.00121646	0	0
DNAH17	8632	broad.mit.edu	37	17	76455266	76455266	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:76455266G>A	ENST00000389840.5	-	61	9760	c.9636C>T	c.(9634-9636)ttC>ttT	p.F3212F	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.F3221F					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACTCGGGGTCGAACGTCGGGT	0.647000													161	103					0	0	0.000781405	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29908237	29908237	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:29908237G>A	ENST00000308713.5	-	3	944	c.417C>T	c.(415-417)tcC>tcT	p.S139S	SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000537485.1_Silent_p.S95S|SEZ6L2_ENST00000346932.5_Silent_p.S139S	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	139	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGGCCCTGGGGAGGCAGGGC	0.687000													8	36					0	0	0.000442599	0	0
PDE2A	5138	broad.mit.edu	37	11	72290592	72290592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:72290592G>A	ENST00000334456.5	-	26	2487	c.2242C>T	c.(2242-2244)Cat>Tat	p.H748Y	PDE2A_ENST00000444035.2_Missense_Mutation_p.H739Y|PDE2A_ENST00000376450.3_Missense_Mutation_p.H492Y|PDE2A_ENST00000544570.1_Missense_Mutation_p.H741Y|PDE2A_ENST00000540345.1_Missense_Mutation_p.H739Y|PDE2A_ENST00000418754.2_Missense_Mutation_p.H633Y	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	748	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CGGGAGAAATGATCAAAGATG	0.622000													34	86					0	0	0.000953801	0	0
PTPRR	5801	broad.mit.edu	37	12	71286618	71286618	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:71286618G>A	ENST00000283228.2	-	2	650	c.198C>T	c.(196-198)taC>taT	p.Y66Y		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	66					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AAGAGGAATGGTAGCTATGTC	0.453000													50	123					0	0	0.000781405	0	0
KIAA1109	84162	broad.mit.edu	37	4	123161431	123161431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:123161431C>T	ENST00000264501.4	+	29	4967	c.4594C>T	c.(4594-4596)Cgt>Tgt	p.R1532C	KIAA1109_ENST00000455637.1_Missense_Mutation_p.R1532C|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R1532C			Q2LD37	K1109_HUMAN	KIAA1109	1532					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						CTCATTGCATCGTCCCCTTGA	0.383000													31	23					0	0	0.00209593	0	0
TIMP4	7079	broad.mit.edu	37	3	12195894	12195894	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:12195894C>T	ENST00000287814.4	-	4	920	c.410G>A	c.(409-411)tGg>tAg	p.W137*	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	137	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						CAGGTCCTCCCAGGGCTCGAT	0.493000													61	252					0	0	0.000781405	0	0
HRASLS5	117245	broad.mit.edu	37	11	63235936	63235936	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:63235936C>T	ENST00000540857.1	-	4	479	c.345_splice	c.e4-1	p.G116_splice	HRASLS5_ENST00000301790.4_Splice_Site_p.G126_splice|HRASLS5_ENST00000539221.1_Splice_Site_p.G126_splice	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	126										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TCTTGGTTTTCCCTATAATGG	0.453000													36	19					0	0	0.000814825	0	0
CTDP1	9150	broad.mit.edu	37	18	77477664	77477664	+	Missense_Mutation	SNP	C	C	T	rs138106090		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:77477664C>T	ENST00000299543.7	+	9	2345	c.2198C>T	c.(2197-2199)aCc>aTc	p.T733I	CTDP1_ENST00000075430.7_Missense_Mutation_p.T733I	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	733					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GACGATCACACCAAGGCACAG	0.642000													26	49					0	0	0.00178596	0	0
DIDO1	11083	broad.mit.edu	37	20	61511312	61511312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:61511312G>A	ENST00000266070.4	-	16	6321	c.5996C>T	c.(5995-5997)tCt>tTt	p.S1999F	DIDO1_ENST00000395343.1_Missense_Mutation_p.S1999F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1999	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ATTTTTTTCAGAAAAGGGTGC	0.602000													151	108					0	0	0.000781405	0	0
SCN11A	11280	broad.mit.edu	37	3	38961481	38961481	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:38961481C>T	ENST00000450244.1	-	7	1102	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	SCN11A_ENST00000456224.3_Missense_Mutation_p.E302K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E302K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E302K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	302					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTTTCTTTTCAAAGCAATGG	0.333000													16	59					0	0	0.000958276	0	0
ROS1	6098	broad.mit.edu	37	6	117730773	117730773	+	Silent	SNP	C	C	T	rs149736013		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:117730773C>T	ENST00000368508.3	-	4	459	c.261G>A	c.(259-261)gcG>gcA	p.A87A	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.A96A	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	87					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATGCACCTTCCGCGCTGCTAC	0.473000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								39	6					0	0	0.000781405	0	0
GANAB	23193	broad.mit.edu	37	11	62398174	62398174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:62398174C>T	ENST00000346178.4	-	12	1366	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	GANAB_ENST00000540933.1_Missense_Mutation_p.D332N|GANAB_ENST00000356638.3_Missense_Mutation_p.D429N|GANAB_ENST00000534779.1_Missense_Mutation_p.D337N	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	429					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TGTTCAATGTCTAGCCAGATG	0.562000													17	38					0	0	0.000422831	0	0
CNGA4	1262	broad.mit.edu	37	11	6261637	6261637	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:6261637G>A	ENST00000379936.2	+	4	728	c.613G>A	c.(613-615)Gac>Aac	p.D205N	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	205					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGTACCCGGACCCCGCGCA	0.577000													36	46					0	0	0.000953801	0	0
LMTK3	114783	broad.mit.edu	37	19	49013377	49013377	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:49013377C>T	ENST00000600059.1	-	3	491	c.264G>A	c.(262-264)gcG>gcA	p.A88A	LMTK3_ENST00000270238.3_Silent_p.A117A					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AGGTCTCCTCCGCAGGGGGAG	0.622000													6	12					0	0	0.00198382	0	0
RIC3	79608	broad.mit.edu	37	11	8132302	8132302	+	Silent	SNP	G	G	A	rs17852022	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:8132302G>A	ENST00000396677.2	-	3	566	c.567C>T	c.(565-567)acC>acT	p.T189T	RIC3_ENST00000335425.7_Silent_p.T169T|RIC3_ENST00000425599.2_Silent_p.T270T|RIC3_ENST00000343202.4_Silent_p.T350T|RIC3_ENST00000309737.6_Silent_p.T351T|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Silent_p.T302T			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	351						endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.T350T(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ATGCTTTATCGGTGCTGATGC	0.478000													34	51					0	0	0.000814825	0	0
F8	2157	broad.mit.edu	37	X	154133156	154133156	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:154133156T>C	ENST00000360256.4	-	16	5716	c.5516A>G	c.(5515-5517)cAa>cGa	p.Q1839R		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1839	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CATATGATGTTGCACTTTCCA	0.413000													36	5					0	0	0.000953801	0	0
FCRL3	115352	broad.mit.edu	37	1	157667079	157667079	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:157667079C>T	ENST00000368184.3	-	6	986	c.695G>A	c.(694-696)aGc>aAc	p.S232N	FCRL3_ENST00000368186.5_Missense_Mutation_p.S232N|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	232	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GAGGGTCTGGCTATCTCTGAA	0.587000													50	39					0	0	0.000781405	0	0
ASXL3	80816	broad.mit.edu	37	18	31311980	31311980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:31311980G>A	ENST00000269197.5	+	9	928	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCTAAATAATGAATTCTTTGC	0.378000													54	43					0	0	0.000781405	0	0
EPHB4	2050	broad.mit.edu	37	7	100417782	100417782	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:100417782G>A	ENST00000358173.3	-	5	1413	c.945C>T	c.(943-945)ccC>ccT	p.P315P	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.P315P	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	315	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTGCACCCCGGGGGTCTGTGC	0.637000													92	30					0	0	0.000781405	0	0
CENPB	1059	broad.mit.edu	37	20	3765730	3765730	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:3765730G>A	ENST00000379751.4	-	1	1607	c.1401C>T	c.(1399-1401)tcC>tcT	p.S467S		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	467					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						AGCCCTCCGAGGAGCTCTCCT	0.612000													16	20					0	0	0.00121646	0	0
AVEN	57099	broad.mit.edu	37	15	34159739	34159739	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:34159739G>A	ENST00000306730.3	-	5	1059	c.930C>T	c.(928-930)gaC>gaT	p.D310D		NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	310					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		TGGATTTCAGGTCCTGAGACG	0.423000													37	58					0	0	0.00111076	0	0
LGALS9	3965	broad.mit.edu	37	17	25970563	25970563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:25970563G>A	ENST00000395473.2	+	5	1925	c.457G>A	c.(457-459)Gtc>Atc	p.V153I	LGALS9_ENST00000413914.2_Missense_Mutation_p.V96I|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000310394.5_Intron|LGALS9_ENST00000302228.5_Intron	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	153					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CCCCCGCACAGTCCCTGTTCA	0.577000													22	3					0	0	0.00229938	0	0
ABCB5	340273	broad.mit.edu	37	7	20698167	20698167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:20698167G>A	ENST00000404938.2	+	14	2227	c.1575G>A	c.(1573-1575)atG>atA	p.M525I	ABCB5_ENST00000443026.2_Missense_Mutation_p.M80I|ABCB5_ENST00000406935.1_Missense_Mutation_p.M80I|ABCB5_ENST00000258738.6_Missense_Mutation_p.M80I	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	80	ABC transmembrane type-1.		E -> K (in dbSNP:rs6461515).		regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAGCTCAAATGAGTGGAGGGC	0.423000													32	36					0	0	0.000692331	0	0
EPHB6	2051	broad.mit.edu	37	7	142566359	142566359	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:142566359C>T	ENST00000392957.2	+	15	2935	c.2148C>T	c.(2146-2148)ttC>ttT	p.F716F	EPHB6_ENST00000411471.2_Silent_p.F439F|EPHB6_ENST00000442129.1_Silent_p.F716F	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	716	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AGATGACCTTCCTGGGCCGGG	0.697000													7	25					0	0	0.00198382	0	0
SCN8A	6334	broad.mit.edu	37	12	52174539	52174539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:52174539G>A	ENST00000354534.5	+	21	4104	c.3926G>A	c.(3925-3927)cGa>cAa	p.R1309Q	SCN8A_ENST00000545061.1_Intron	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1309					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GCCTTATCACGATTTGAAGGG	0.458000													21	28					0	0	0.00047179	0	0
DSP	1832	broad.mit.edu	37	6	7581406	7581406	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:7581406C>T	ENST00000379802.3	+	23	5324	c.4983C>T	c.(4981-4983)gtC>gtT	p.V1661V	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1661	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTTCTGAGGTCGAGGCCCTGA	0.547000													87	121					0	0	0.000781405	0	0
AMPH	273	broad.mit.edu	37	7	38433665	38433665	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:38433665G>A	ENST00000356264.2	-	18	1763	c.1548C>T	c.(1546-1548)acC>acT	p.T516T	AMPH_ENST00000325590.5_Silent_p.T474T|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Silent_p.T474T	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	516					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CACCCTCAGTGGTTTCAGTTC	0.602000													64	85					0	0	0.000781405	0	0
AGBL1	123624	broad.mit.edu	37	15	87217540	87217540	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:87217540G>A	ENST00000441037.2	+	22	3051	c.2956G>A	c.(2956-2958)Gga>Aga	p.G986R	AGBL1_ENST00000389298.3_Missense_Mutation_p.G717R|AGBL1_ENST00000421325.2_Missense_Mutation_p.G986R	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	986					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGAGGAGATGGGAGCCATGTT	0.517000													7	11					0	0	0.000157383	0	0
C22orf29	79680	broad.mit.edu	37	22	19839297	19839297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:19839297G>A	ENST00000405640.1	-	2	1156	c.488C>T	c.(487-489)cCc>cTc	p.P163L	GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.P163L|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.P163L			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	163										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GTCAGGCAGGGGCAGGTCCCC	0.582000													33	60					0	0	0.000814825	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759307	121759307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:121759307C>T	ENST00000261367.7	+	6	2444	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	SNCAIP_ENST00000379536.2_Missense_Mutation_p.S292F|SNCAIP_ENST00000503116.2_Missense_Mutation_p.S339F|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.S292F|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S339F			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	292					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GCAGCAGAATCCAAACCAGAA	0.473000													10	32					0	0	0.000442599	0	0
ZNF418	147686	broad.mit.edu	37	19	58437585	58437585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:58437585G>A	ENST00000396147.1	-	4	2255	c.1964C>T	c.(1963-1965)tCa>tTa	p.S655L	ZNF418_ENST00000599852.1_Missense_Mutation_p.S570L|ZNF418_ENST00000425570.3_Missense_Mutation_p.S676L|ZNF418_ENST00000595830.1_Missense_Mutation_p.S655L|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TCGATGAAATGATTTTCCACA	0.413000													21	113					0	0	0.00152264	0	0
CD163L1	283316	broad.mit.edu	37	12	7586219	7586219	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:7586219G>A	ENST00000313599.3	-	3	253	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	CD163L1_ENST00000396630.1_Nonsense_Mutation_p.Q66*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.Q66*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	66	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACTGTCCCTGGAATTTCACC	0.493000													28	73					0	0	0.00209593	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22259571	22259571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:22259571C>T	ENST00000344041.6	-	9	763	c.451G>A	c.(451-453)Gga>Aga	p.G151R	RAPGEF5_ENST00000405243.1_Missense_Mutation_p.G304R|RAPGEF5_ENST00000475788.1_5'UTR	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCAATTCGTCCGATTTCATCT	0.438000													16	28					0	0	0.000422831	0	0
COL12A1	1303	broad.mit.edu	37	6	75855928	75855928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:75855928C>T	ENST00000322507.8	-	24	4759	c.4450G>A	c.(4450-4452)Gat>Aat	p.D1484N	COL12A1_ENST00000416123.2_Missense_Mutation_p.D1484N|COL12A1_ENST00000483888.2_Missense_Mutation_p.D1484N|COL12A1_ENST00000345356.6_Missense_Mutation_p.D320N	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1484	Fibronectin type-III 10.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGGCCAACATCATAAATATTC	0.453000													24	6					0	0	0.000586117	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995998	140995998	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:140995998G>A	ENST00000285879.4	+	4	3094	c.2808G>A	c.(2806-2808)acG>acA	p.T936T	MAGEC1_ENST00000406005.2_Silent_p.T3T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	936	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGCTGACGAATGTCATCA	0.468000										HNSCC(15;0.026)			60	12					0	0	0.000781405	0	0
C11orf30	56946	broad.mit.edu	37	11	76255759	76255759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:76255759C>T	ENST00000529032.1	+	18	3166	c.3166C>T	c.(3166-3168)Cct>Tct	p.P1056S	C11orf30_ENST00000524767.1_Missense_Mutation_p.P1071S|C11orf30_ENST00000343878.3_Missense_Mutation_p.P1056S|C11orf30_ENST00000533248.1_Missense_Mutation_p.P965S|C11orf30_ENST00000525919.1_Missense_Mutation_p.P1057S|C11orf30_ENST00000525038.1_Missense_Mutation_p.P1057S|C11orf30_ENST00000334736.3_Missense_Mutation_p.P1056S|C11orf30_ENST00000524490.1_Missense_Mutation_p.P958S			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1056	Gln-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCAGCAGCTCCCTAAACTGCA	0.552000													14	55					0	0	0.00185496	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585174	70585174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:70585174G>A	ENST00000260126.3	-	10	3183	c.2477C>T	c.(2476-2478)cCa>cTa	p.P826L	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P771L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	826						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TATTGCTTCTGGGAAGGGCCC	0.562000													45	54					0	0	0.000781405	0	0
COL27A1	85301	broad.mit.edu	37	9	117051536	117051536	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:117051536C>T	ENST00000356083.3	+	45	4558	c.4167C>T	c.(4165-4167)ccC>ccT	p.P1389P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1389	Collagen-like 13.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ATCCGGGACCCCGGGGGTGGC	0.677000													7	2					0	0	0.000274275	0	0
M1AP	130951	broad.mit.edu	37	2	74803660	74803660	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:74803660G>A	ENST00000290536.5	-	6	971	c.855C>T	c.(853-855)gaC>gaT	p.D285D	M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Silent_p.D285D|M1AP_ENST00000409585.1_Silent_p.D285D|M1AP_ENST00000358434.2_Silent_p.D3D	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		CTCCTTTAGGGTCATCCATTC	0.512000													27	27					0	0	0.000878237	0	0
CCNY	219771	broad.mit.edu	37	10	35857996	35857996	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:35857996C>T	ENST00000374704.4	+	10	1104	c.924C>T	c.(922-924)ctC>ctT	p.L308L	CCNY_ENST00000339497.5_Silent_p.L283L|CCNY_ENST00000265375.9_Silent_p.L254L|CCNY_ENST00000374706.1_Silent_p.L254L	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	308					cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TCTCTCGCCTCTGCGAGGACA	0.612000													21	13					0	0	0.00121646	0	0
ZNF799	90576	broad.mit.edu	37	19	12502327	12502327	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:12502327G>A	ENST00000419318.1	-	4	1538	c.789C>T	c.(787-789)tcC>tcT	p.S263S	ZNF799_ENST00000430385.3_Silent_p.S295S|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GTCTTCGAAGGGAAGTGGAAG	0.433000													44	82					0	0	0.000509022	0	0
SLC28A2	9153	broad.mit.edu	37	15	45559976	45559976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:45559976G>A	ENST00000347644.3	+	12	1246	c.1181G>A	c.(1180-1182)gGg>gAg	p.G394E	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	394					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		AGTGAGGAGGGGGTAAAGCTG	0.547000													78	113					0	0	0.000781405	0	0
SLC2A5	6518	broad.mit.edu	37	1	9100210	9100210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:9100210C>T	ENST00000377424.4	-	6	789	c.610G>A	c.(610-612)Gcg>Acg	p.A204T	SLC2A5_ENST00000535586.1_Missense_Mutation_p.A89T|SLC2A5_ENST00000377414.3_3'UTR|SLC2A5_ENST00000536305.1_Missense_Mutation_p.A145T	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	204					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTGCAGCGCCGCGGGGACC	0.682000													3	0					0	0	6.4e-05	0	0
GP9	2815	broad.mit.edu	37	3	128780669	128780669	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:128780669G>A	ENST00000307395.4	+	3	309	c.87G>A	c.(85-87)ctG>ctA	p.L29L		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	29	LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	GCCGCGCCCTGGAAACCATGG	0.701000													9	10					0	0	0.000442599	0	0
ADRA1A	148	broad.mit.edu	37	8	26623663	26623663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:26623663C>T	ENST00000354550.4	-	3	1472	c.1273G>A	c.(1273-1275)Gga>Aga	p.G425R	ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Intron	NM_033304.2	NP_150647.2	P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	0					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CAATCCATTCCCCTCTGTCCA	0.378000													8	46					0	0	0.000274275	0	0
OR6F1	343169	broad.mit.edu	37	1	247875297	247875297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:247875297G>A	ENST00000302084.2	-	1	808	c.761C>T	c.(760-762)tCc>tTc	p.S254F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GAAAACTGTGGACCCATACCA	0.537000													17	91					0	0	0.000566183	0	0
TIMP4	7079	broad.mit.edu	37	3	12195893	12195893	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:12195893C>G	ENST00000287814.4	-	4	921	c.411G>C	c.(409-411)tgG>tgC	p.W137C	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	137	NTR.						metal ion binding|metalloendopeptidase inhibitor activity	p.W137C(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						ACAGGTCCTCCCAGGGCTCGA	0.493000													59	259					0	0	0.000781405	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184532	72184532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:72184532C>T	ENST00000537465.1	-	5	769	c.611G>A	c.(610-612)gGg>gAg	p.G204E	PMFBP1_ENST00000355636.6_Missense_Mutation_p.G59E|PMFBP1_ENST00000237353.10_Missense_Mutation_p.G204E			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	204										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCCGAGTTCCCCCTGCAACAT	0.527000													47	106					0	0	0.000781405	0	0
SHISA4	149345	broad.mit.edu	37	1	201860657	201860657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:201860657C>T	ENST00000362011.6	+	4	795	c.508C>T	c.(508-510)Cca>Tca	p.P170S	SHISA4_ENST00000464117.1_3'UTR	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	170	Pro-rich.					integral to membrane				kidney(1)|lung(4)	5						TCCCCAATATCCACTCTACCC	0.612000													44	42					0	0	0.000781405	0	0
OTOGL	283310	broad.mit.edu	37	12	80717528	80717528	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:80717528G>A	ENST00000458043.2	+	34	4086	c.4080G>A	c.(4078-4080)agG>agA	p.R1360R	OTOGL_ENST00000547103.1_Silent_p.R1360R	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGCCTTACAGGAAGATGTGTG	0.368000													27	22					0	0	0.00106085	0	0
NUTM1	256646	broad.mit.edu	37	15	34647955	34647955	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:34647955G>A	ENST00000537011.1	+	8	2128	c.1746G>A	c.(1744-1746)ggG>ggA	p.G582G	NUTM1_ENST00000438749.3_Silent_p.G572G|NUTM1_ENST00000333756.4_Silent_p.G554G					NUT midline carcinoma, family member 1																		ACAGGGATGGGAACACTCTGC	0.592000													38	53					0	0	0.00128727	0	0
FCRL1	115350	broad.mit.edu	37	1	157773774	157773774	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:157773774G>A	ENST00000358292.3	-	3	231	c.180C>T	c.(178-180)gcC>gcT	p.A60A	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Silent_p.A60A|FCRL1_ENST00000368176.3_Silent_p.A60A	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	60	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity	p.A60A(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTGGGCCCAAGGCCCGGGTGT	0.577000													57	34					0	0	0.000781405	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962753	73962753	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:73962753G>A	ENST00000373468.1	-	3	2290	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	KIAA2022_ENST00000055682.5_Missense_Mutation_p.R547C			Q5QGS0	K2022_HUMAN	KIAA2022	547					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CCTTTAAAGCGATTAATGATG	0.403000													27	3					0	0	0.00127121	0	0
STARD4	134429	broad.mit.edu	37	5	110835631	110835631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:110835631C>T	ENST00000296632.3	-	6	705	c.571G>A	c.(571-573)Gca>Aca	p.A191T	STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	191	START.				lipid transport		lipid binding	p.A191T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		AAAGTGCTTGCCATGGCTGTA	0.408000													20	53					0	0	0.000375601	0	0
ZNF709	163051	broad.mit.edu	37	19	12575850	12575850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:12575850G>A	ENST00000397732.3	-	4	1057	c.886C>T	c.(886-888)Cga>Tga	p.R296*	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Nonsense_Mutation_p.R296*	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TCATGACTTCGAAAGGATGTG	0.363000													17	11					0	0	0.000566183	0	0
SLC11A2	4891	broad.mit.edu	37	12	51382183	51382183	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:51382183G>A	ENST00000394904.3	-	16	1747	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F	SLC11A2_ENST00000545993.2_Silent_p.F533F|SLC11A2_ENST00000547198.1_Silent_p.F537F|SLC11A2_ENST00000541174.2_Silent_p.F537F|SLC11A2_ENST00000262051.7_Silent_p.F537F|SLC11A2_ENST00000262052.5_Silent_p.F537F|SLC11A2_ENST00000546743.1_Silent_p.F458F|SLC11A2_ENST00000547688.1_Silent_p.F566F	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	537					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CACAGTCCAGGAAGGACATGC	0.488000													34	42					0	0	0.00148497	0	0
ZNF597	146434	broad.mit.edu	37	16	3486990	3486990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:3486990C>T	ENST00000301744.4	-	4	944	c.709G>A	c.(709-711)Gag>Aag	p.E237K	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TAGGGCTTCTCCTTTACGTGG	0.473000													18	47					0	0	0.00074312	0	0
OR52K2	119774	broad.mit.edu	37	11	4471211	4471211	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:4471211C>T	ENST00000325719.4	+	1	687	c.642C>T	c.(640-642)ctC>ctT	p.L214L		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGACCTGCTCCTTGTTATCC	0.488000													28	78					0	0	0.0024448	0	0
GRID2	2895	broad.mit.edu	37	4	94006212	94006212	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:94006212C>T	ENST00000282020.4	+	3	569	c.311C>T	c.(310-312)tCc>tTc	p.S104F	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	104					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.S104Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TCAGCAGGATCCCTCCAGTCT	0.537000													18	19					0	0	0.00074312	0	0
SH3TC2	79628	broad.mit.edu	37	5	148422391	148422391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:148422391G>A	ENST00000515425.1	-	5	496	c.395C>T	c.(394-396)tCc>tTc	p.S132F	SH3TC2_ENST00000512049.1_Intron|SH3TC2_ENST00000394358.2_Missense_Mutation_p.S17F	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	132							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGACACATGGATACGTAGCC	0.428000													24	19					0	0	0.00127121	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891129	18891129	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:18891129G>A	ENST00000317658.3	+	0	85					NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3						actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TGATGGGAAAGGTGGCTCATG	0.443000													17	33					0	0	0.000422831	0	0
ZNF17	7565	broad.mit.edu	37	19	57932645	57932645	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:57932645C>T	ENST00000307658.7	+	4	2054	c.1791C>T	c.(1789-1791)tcC>tcT	p.S597S	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Silent_p.S595S			P17021	ZNF17_HUMAN	zinc finger protein 17	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TGGACAGCTCCACACTCATTA	0.398000													41	34					0	0	0.00195071	0	0
ART1	417	broad.mit.edu	37	11	3685408	3685408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:3685408G>A	ENST00000250693.1	+	5	1074	c.973G>A	c.(973-975)Ggc>Agc	p.G325S		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	325					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGATGGTCCAGGCCTCCTTTG	0.577000													41	56					0	0	0.000781405	0	0
MUC4	4585	broad.mit.edu	37	3	195517616	195517616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:195517616C>T	ENST00000463781.3	-	2	1294	c.835G>A	c.(835-837)Gag>Aag	p.E279K	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.E279K|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	284					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GATGATGTCTCCCCTGGGTTT	0.468000													52	39					0	0	0.000781405	0	0
FAT4	79633	broad.mit.edu	37	4	126239462	126239462	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:126239462C>T	ENST00000394329.3	+	1	1909	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	632	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAGGTCCTTCCGTCTGGATC	0.552000													15	25					0	0	0.000308642	0	0
CPN1	1369	broad.mit.edu	37	10	101835787	101835787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:101835787C>T	ENST00000370418.3	-	2	552	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	101	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CACAGAAACTCCGACAGCTGC	0.577000													40	14					0	0	0.00195071	0	0
OR8K5	219453	broad.mit.edu	37	11	55927433	55927433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:55927433C>T	ENST00000313447.1	-	1	360	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ACATAGCGGTCATAGGCCATG	0.418000													48	50					0	0	0.000680045	0	0
TRPM2	7226	broad.mit.edu	37	21	45837819	45837819	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:45837819C>T	ENST00000397928.1	+	21	3601	c.3156C>T	c.(3154-3156)ttC>ttT	p.F1052F	TRPM2_ENST00000397932.2_Silent_p.F1052F|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.F1032F|TRPM2_ENST00000300482.5_Silent_p.F1052F	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1052						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCTACACCTTCCAGCAGGTGC	0.627000													23	40					0	0	0.000878237	0	0
BFSP2	8419	broad.mit.edu	37	3	133166238	133166238	+	Silent	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:133166238A>G	ENST00000302334.2	+	2	656	c.567A>G	c.(565-567)aaA>aaG	p.K189K	RP11-91K8.1_ENST00000515542.1_RNA	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	189	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						ATGACTTTAAAGAGAGGTAAT	0.517000													8	35					0	0	0.000157383	0	0
CSTF2T	23283	broad.mit.edu	37	10	53458236	53458236	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:53458236G>A	ENST00000331173.4	-	1	1119	c.1074C>T	c.(1072-1074)ccC>ccT	p.P358P	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	358	Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GACCCTGATGGGGTGGACCCA	0.562000													36	28					0	0	0.000692331	0	0
TRIOBP	11078	broad.mit.edu	37	22	38130867	38130867	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:38130867G>A	ENST00000406386.3	+	9	4779	c.4524G>A	c.(4522-4524)aaG>aaA	p.K1508K	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1508					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AACTAGGAAAGAGAAGCCCAC	0.647000													35	24					0	0	0.000692331	0	0
NGEF	25791	broad.mit.edu	37	2	233839559	233839559	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:233839559C>T	ENST00000264051.3	-	2	320	c.42G>A	c.(40-42)agG>agA	p.R14R		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	14	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TTGCTGATTTCCTCCGGGTCT	0.458000													55	60					0	0	0.000781405	0	0
TRHR	7201	broad.mit.edu	37	8	110100064	110100064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:110100064G>A	ENST00000518632.1	+	2	674	c.323G>A	c.(322-324)gGa>gAa	p.G108E	TRHR_ENST00000311762.2_Missense_Mutation_p.G108E			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	108						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CAGTATTTGGGAATTAATGCA	0.463000													85	48					0	0	0.000781405	0	0
IDE	3416	broad.mit.edu	37	10	94268591	94268591	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:94268591G>A	ENST00000265986.6	-	7	1010	c.954C>T	c.(952-954)ccC>ccT	p.P318P		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	318					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)	GGTCAGGTATGGGAAATGTCA	0.368000													299	63					0	0	0.000781405	0	0
C3	718	broad.mit.edu	37	19	6685135	6685135	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:6685135G>A	ENST00000245907.6	-	30	3925	c.3833C>T	c.(3832-3834)gCc>gTc	p.A1278V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1278					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TTGAGCCAAGGCTTGGAACAC	0.542000													14	11					0	0	0.000422831	0	0
CWH43	80157	broad.mit.edu	37	4	49019273	49019273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:49019273G>A	ENST00000226432.4	+	9	1377	c.1194G>A	c.(1192-1194)tgG>tgA	p.W398*	CWH43_ENST00000513409.1_Nonsense_Mutation_p.W371*	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	398					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TAGTTCTGTGGCTGCTTGTTG	0.358000													27	28					0	0	0.0024448	0	0
SOBP	55084	broad.mit.edu	37	6	107955662	107955662	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:107955662C>T	ENST00000317357.5	+	6	2273	c.1614C>T	c.(1612-1614)ccC>ccT	p.P538P		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	538	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TGCCCATCCCCATCCCCATCC	0.667000													17	2					0	0	0.000958276	0	0
MROH7	374977	broad.mit.edu	37	1	55166006	55166006	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:55166006G>A	ENST00000545244.1	+	15	1807	c.1566G>A	c.(1564-1566)tgG>tgA	p.W522*	MROH7_ENST00000409996.1_Missense_Mutation_p.E561K|MROH7_ENST00000454855.2_Missense_Mutation_p.E511K|MROH7_ENST00000421030.2_Missense_Mutation_p.E993K|MROH7_ENST00000414150.2_Missense_Mutation_p.E993K					maestro heat-like repeat family member 7																		CCTCCAGATGGAGCAGGTGCG	0.622000													20	11					0	0	0.00121646	0	0
PDE11A	50940	broad.mit.edu	37	2	178592780	178592780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:178592780C>T	ENST00000286063.5	-	11	2226	c.1909G>A	c.(1909-1911)Gta>Ata	p.V637I	PDE11A_ENST00000449286.2_Missense_Mutation_p.V279I|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000389683.3_Missense_Mutation_p.V193I|PDE11A_ENST00000409504.1_Missense_Mutation_p.V279I|PDE11A_ENST00000358450.4_Missense_Mutation_p.V387I	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	637					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			AATTTCTGTACCATCCCCAGC	0.458000									Primary Pigmented Nodular Adrenocortical Disease, Familial				14	32					0	0	0.000219431	0	0
SGSM1	129049	broad.mit.edu	37	22	25280142	25280142	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:25280142G>A	ENST00000400358.4	+	15	1675	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K	SGSM1_ENST00000400359.4_Missense_Mutation_p.E595K	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	595						Golgi apparatus	Rab GTPase activator activity	p.E540K(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CAGGATCTGGGAGCAGTACCT	0.552000													19	37					0	0	0.00152264	0	0
TOX3	27324	broad.mit.edu	37	16	52497888	52497888	+	Silent	SNP	G	G	A	rs147213203	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:52497888G>A	ENST00000219746.9	-	3	650	c.366C>T	c.(364-366)ctC>ctT	p.L122L	TOX3_ENST00000407228.3_Silent_p.L117L	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	122					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CTTGTTCCACGAGATTTCTTG	0.433000													66	53					0	0	0.000781405	0	0
RASGRP4	115727	broad.mit.edu	37	19	38912609	38912609	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:38912609C>T	ENST00000454404.2	-	2	421	c.208_splice	c.e2+1	p.D70_splice	RASGRP4_ENST00000587753.1_Splice_Site_p.D70_splice|RASGRP4_ENST00000426920.2_Splice_Site_p.D70_splice|RASGRP4_ENST00000433821.2_Splice_Site_p.D70_splice|RASGRP4_ENST00000586305.1_Splice_Site_p.D70_splice|RASGRP4_ENST00000587738.1_Splice_Site_p.D70_splice|RASGRP4_ENST00000293062.9_Splice_Site_p.D70_splice	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	70	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGACACTTACCGAAGGACTGG	0.572000													3	8					0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9089251	9089251	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9089251G>A	ENST00000397910.4	-	1	2767	c.2564C>T	c.(2563-2565)cCt>cTt	p.P855L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	855	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						ATGAGTGGAAGGAGTAGATGA	0.463000													41	27					0	0	0.00170553	0	0
SPTA1	6708	broad.mit.edu	37	1	158607858	158607858	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:158607858G>A	ENST00000368148.3	-	36	5334	c.5154C>T	c.(5152-5154)ttC>ttT	p.F1718F	SPTA1_ENST00000368147.3_Silent_p.F1718F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1718					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GATCCTGGAAGAACTGGAACA	0.413000													32	86					0	0	0.00058488	0	0
NBEAP1	606	broad.mit.edu	37	15	20876510	20876510	+	RNA	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:20876510A>G	ENST00000556948.1	-	0	90																											TGCTTCAGCAAAGGTACTCCA	0.333000													11	110					0	0	0.000673444	0	0
ZNF488	118738	broad.mit.edu	37	10	48371305	48371305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:48371305C>T	ENST00000395702.2	+	2	1000	c.773C>T	c.(772-774)tCg>tTg	p.S258L	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.S151L			Q96MN9	ZN488_HUMAN	zinc finger protein 488	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TCCACCACTTCGTGGGCCCTC	0.612000													34	19					0	0	0.000491102	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6081952	6081952	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:6081952A>G	ENST00000409021.3	-	7	1638	c.1189T>C	c.(1189-1191)Ttc>Ctc	p.F397L	JAKMIP1_ENST00000409831.1_Missense_Mutation_p.F397L|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.F397L|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.F232L|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.F232L	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	397	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCCTCAGGAACTCGATCTCC	0.607000													15	13					0	0	0.000308642	0	0
KIAA1549	57670	broad.mit.edu	37	7	138591708	138591708	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:138591708C>T	ENST00000440172.1	-	6	3465	c.3417G>A	c.(3415-3417)gaG>gaA	p.E1139E	KIAA1549_ENST00000242365.4_Silent_p.E1089E|KIAA1549_ENST00000422774.1_Silent_p.E1139E	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1139						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGAAACTGAACTCCACCACAC	0.532000			O	BRAF	pilocytic astrocytoma								30	68					0	0	0.000692331	0	0
MTUS2	23281	broad.mit.edu	37	13	29599316	29599316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:29599316G>A	ENST00000431530.3	+	1	569	c.511G>A	c.(511-513)Gat>Aat	p.D171N		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	161						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						TGTTCCCAAGGATAAACTGGC	0.517000													25	58					0	0	0.00106085	0	0
SIK1	150094	broad.mit.edu	37	21	44839251	44839251	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:44839251G>A	ENST00000270162.6	-	10	1359	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	409					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GCGAGCTCTGGAGCTCACAGT	0.677000													13	14					0	0	0.00136819	0	0
CLEC6A	93978	broad.mit.edu	37	12	8610512	8610512	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:8610512C>T	ENST00000382073.3	+	2	236	c.50C>T	c.(49-51)tCc>tTc	p.S17F		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	17					defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					GGCTGGTTGTCCCTGAGACTC	0.488000													37	18					0	0	0.000953801	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48133942	48133942	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:48133942G>A	ENST00000405493.2	-	23	2438	c.2229C>T	c.(2227-2229)tcC>tcT	p.S743S	RAPGEF3_ENST00000171000.4_Silent_p.S743S|RAPGEF3_ENST00000548919.1_Silent_p.S676S|RAPGEF3_ENST00000549151.1_Silent_p.S743S|RAPGEF3_ENST00000389212.3_Silent_p.S785S|RAPGEF3_ENST00000449771.2_Silent_p.S785S|RP1-197B17.3_ENST00000547799.1_lincRNA	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	743					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TCTCGAGGGCGGAGTACAGCT	0.667000													20	9					0	0	0.000586117	0	0
BRPF3	27154	broad.mit.edu	37	6	36193062	36193062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:36193062C>T	ENST00000357641.6	+	11	3453	c.3200C>T	c.(3199-3201)cCc>cTc	p.P1067L	BRPF3_ENST00000543502.1_Missense_Mutation_p.P797L|BRPF3_ENST00000534400.1_Intron|BRPF3_ENST00000443324.2_Missense_Mutation_p.P733L|BRPF3_ENST00000534694.1_Missense_Mutation_p.P733L|BRPF3_ENST00000339717.7_Missense_Mutation_p.P797L	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1067					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CTCCTGCTGCCCTTTGAAGAC	0.652000													9	25					0	0	0.000978159	0	0
ZNF583	147949	broad.mit.edu	37	19	56935651	56935651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:56935651C>T	ENST00000333201.9	+	5	1834	c.1624C>T	c.(1624-1626)Cat>Tat	p.H542Y	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.H542Y	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TGAGAGAATTCATactatgga	0.418000													10	62					0	0	0.000978159	0	0
PSMD10	5716	broad.mit.edu	37	X	107331010	107331010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:107331010G>A	ENST00000217958.3	-	4	530	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	PSMD10_ENST00000340200.5_Missense_Mutation_p.R112W|PSMD10_ENST00000361815.5_Missense_Mutation_p.R145W|PSMD10_ENST00000372295.1_Missense_Mutation_p.R104W|PSMD10_ENST00000372296.1_Missense_Mutation_p.R104W	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	145	Interaction with RELA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCTGCTGCCCGGTGCATTGCT	0.458000													44	6					0	0	0.000781405	0	0
DNAH10	196385	broad.mit.edu	37	12	124270395	124270395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:124270395G>A	ENST00000409039.3	+	9	1175	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	384	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTACAACAAAGACGAGAGGAT	0.562000													47	29					0	0	0.000781405	0	0
COL24A1	255631	broad.mit.edu	37	1	86289269	86289269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:86289269C>T	ENST00000370571.2	-	45	4105	c.3739G>A	c.(3739-3741)Gaa>Aaa	p.E1247K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E1247K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1247	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCACCTGGTTCGCCCTTTAGT	0.313000													14	76					0	0	0.00185496	0	0
ADAM2	2515	broad.mit.edu	37	8	39604031	39604031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:39604031G>A	ENST00000265708.4	-	19	2237	c.2134C>T	c.(2134-2136)Caa>Taa	p.Q712*	ADAM2_ENST00000347580.4_Nonsense_Mutation_p.Q693*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.Q649*|ADAM2_ENST00000379853.2_Nonsense_Mutation_p.Q556*	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	712					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTTTTCCTTTGGAAATTAACT	0.284000													56	82					0	0	0.000781405	0	0
NEBL	10529	broad.mit.edu	37	10	21120197	21120197	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:21120197C>T	ENST00000377122.4	-	16	1995	c.1599G>A	c.(1597-1599)ggG>ggA	p.G533G	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	533					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCATTCCTTTCCCTTTAATTT	0.353000													15	46					0	0	0.000308642	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45675348	45675348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:45675348G>A	ENST00000310806.4	-	15	3636	c.3178C>T	c.(3178-3180)Cgt>Tgt	p.R1060C		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	1060					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTTTGCATACGAAAAACATAT	0.259000													12	37					0	0	0.000422831	0	0
PROX2	283571	broad.mit.edu	37	14	75329637	75329637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:75329637C>T	ENST00000556489.2	-	1	900	c.901G>A	c.(901-903)Gga>Aga	p.G301R	PROX2_ENST00000445876.1_Missense_Mutation_p.G301R|PROX2_ENST00000556084.2_Intron	NM_001243007.1	NP_001229936.1	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	301					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GATAAATTTCCTACTGGGACC	0.552000													59	37					0	0	0.000781405	0	0
CPNE4	131034	broad.mit.edu	37	3	131404763	131404763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:131404763G>A	ENST00000512055.1	-	10	2673	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	CPNE4_ENST00000502818.1_Missense_Mutation_p.R201C|CPNE4_ENST00000429747.1_Missense_Mutation_p.R183C|CPNE4_ENST00000512332.1_Missense_Mutation_p.R201C|CPNE4_ENST00000511604.1_Missense_Mutation_p.R183C			Q96A23	CPNE4_HUMAN	copine IV	183	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TCATTCATACGAAAAATTTCC	0.383000													11	28					0	0	0.00136819	0	0
FBXO18	84893	broad.mit.edu	37	10	5979201	5979201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:5979201C>T	ENST00000379994.1	+	11	1280	c.1198C>T	c.(1198-1200)Cgt>Tgt	p.R400C	FBXO18_ENST00000362091.4_Silent_p.I1030I|FBXO18_ENST00000379999.5_Silent_p.I1081I|FBXO18_ENST00000397269.3_Silent_p.I534I|RP11-536K7.3_ENST00000397264.3_RNA			Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	0					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TGGAGAACATCGTACTGCCCC	0.662000													11	3					0	0	0.00136819	0	0
MTMR12	54545	broad.mit.edu	37	5	32242174	32242174	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:32242174A>G	ENST00000382142.3	-	12	1330	c.1160T>C	c.(1159-1161)gTt>gCt	p.V387A	MTMR12_ENST00000264934.5_Missense_Mutation_p.V387A|MTMR12_ENST00000280285.5_Missense_Mutation_p.V387A	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	387	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TAAAAGAAGAACATTCATGTT	0.328000													19	39					0	0	0.00229938	0	0
MYSM1	114803	broad.mit.edu	37	1	59147793	59147793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:59147793G>A	ENST00000472487.1	-	8	962	c.923C>T	c.(922-924)tCa>tTa	p.S308L	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	308					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TAATTCAATTGATTTTTTGTC	0.373000													103	58					0	0	0.000781405	0	0
OR4K17	390436	broad.mit.edu	37	14	20585689	20585689	+	Missense_Mutation	SNP	G	G	A	rs148373137		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:20585689G>A	ENST00000315543.4	+	1	124	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCAAGTGTCAGAATTCATTTT	0.438000													63	113					0	0	0.000781405	0	0
AJUBA	84962	broad.mit.edu	37	14	23451387	23451387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:23451387G>A	ENST00000262713.2	-	1	464	c.89C>T	c.(88-90)aCc>aTc	p.T30I	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.T30I	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	30	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CGGCCCGGGGGTCCCGTCAGA	0.672000													39	20					0	0	0.000953801	0	0
CNTN6	27255	broad.mit.edu	37	3	1414033	1414033	+	Missense_Mutation	SNP	G	G	A	rs138019615	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:1414033G>A	ENST00000446702.2	+	13	2170	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	CNTN6_ENST00000539053.1_Missense_Mutation_p.E443K|CNTN6_ENST00000350110.2_Missense_Mutation_p.E515K			Q9UQ52	CNTN6_HUMAN	contactin 6	515	Ig-like C2-type 6.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TACAGTTGGCGAGAGTATAGT	0.388000													34	31					0	0	0.00148497	0	0
SLC7A2	6542	broad.mit.edu	37	8	17417988	17417988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:17417988C>T	ENST00000470360.1	+	11	1684	c.1567C>T	c.(1567-1569)Ctt>Ttt	p.L523F	SLC7A2_ENST00000494857.1_Missense_Mutation_p.L484F|SLC7A2_ENST00000398090.3_Missense_Mutation_p.L523F|SLC7A2_ENST00000004531.10_Missense_Mutation_p.L524F|SLC7A2_ENST00000522656.1_Missense_Mutation_p.L484F			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	484					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGCCCCTCCCTTCTGCCAAC	0.537000													19	69					0	0	0.00229938	0	0
ACE2	59272	broad.mit.edu	37	X	15610379	15610379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:15610379G>A	ENST00000427411.1	-	4	628	c.412C>T	c.(412-414)Cca>Tca	p.P138S	ACE2_ENST00000252519.3_Missense_Mutation_p.P138S	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	138					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CATTCTTGTGGATTATCTGGG	0.294000													126	6					0	0	0.000781405	0	0
AKR1D1	6718	broad.mit.edu	37	7	137790090	137790090	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:137790090C>T	ENST00000242375.3	+	5	536	c.494C>T	c.(493-495)tCc>tTc	p.S165F	AKR1D1_ENST00000432161.1_Missense_Mutation_p.S165F|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Intron	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	165					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TTGGTGAAATCCCTGGGAGTG	0.483000													49	182					0	0	0.000781405	0	0
PCDH15	65217	broad.mit.edu	37	10	55700729	55700729	+	Silent	SNP	A	A	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:55700729A>C	ENST00000373965.2	-	25	3544	c.3150T>G	c.(3148-3150)ccT>ccG	p.P1050P	PCDH15_ENST00000395432.2_Silent_p.P1006P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Silent_p.P1050P|PCDH15_ENST00000409834.1_Silent_p.P654P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Silent_p.P1043P|PCDH15_ENST00000437009.1_Silent_p.P972P|PCDH15_ENST00000361849.3_Silent_p.P1043P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Silent_p.P1043P|PCDH15_ENST00000414778.1_Silent_p.P1048P|PCDH15_ENST00000395433.1_Silent_p.P1021P|PCDH15_ENST00000320301.6_Silent_p.P1043P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1043	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CACTTACTGGAGGAGGTCTGC	0.348000										HNSCC(58;0.16)			35	21					0	0	0.000953801	0	0
SCN1A	6323	broad.mit.edu	37	2	166848475	166848475	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:166848475G>A	ENST00000423058.2	-	26	5327	c.5310C>T	c.(5308-5310)atC>atT	p.I1770I	SCN1A_ENST00000303395.4_Silent_p.I1770I|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.I1759I|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Silent_p.I1742I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1770						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGGATATGATGATGTAACTGA	0.463000													66	85					0	0	0.000781405	0	0
KIFC2	90990	broad.mit.edu	37	8	145692697	145692697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:145692697C>T	ENST00000301332.2	+	4	819	c.442C>T	c.(442-444)Cct>Tct	p.P148S		NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	148					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TCAGCCAGCCCCTCGGGTCCG	0.627000											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	103	60					0	0	0.000781405	0	0
SCTR	6344	broad.mit.edu	37	2	120252038	120252038	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:120252038C>T	ENST00000019103.5	-	2	426	c.159G>A	c.(157-159)caG>caA	p.Q53Q		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	53					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GGTCTCCTGTCTGCTCTCTGG	0.602000													15	20					0	0	0.000219431	0	0
ABCA4	24	broad.mit.edu	37	1	94487467	94487467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:94487467G>A	ENST00000370225.3	-	33	4794	c.4708C>T	c.(4708-4710)Ccc>Tcc	p.P1570S		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1570					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCCGTGATGGGGACGACTGGG	0.498000													60	26					0	0	0.000781405	0	0
EML5	161436	broad.mit.edu	37	14	89181355	89181355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:89181355C>T	ENST00000554922.1	-	9	1620	c.1372G>A	c.(1372-1374)Gac>Aac	p.D458N	EML5_ENST00000380664.5_Missense_Mutation_p.D458N|EML5_ENST00000352093.5_Missense_Mutation_p.D458N	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	458						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GAAGACCAGTCCAGATGAGTG	0.373000													24	41					0	0	0.000586117	0	0
PAG1	55824	broad.mit.edu	37	8	81888983	81888983	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:81888983G>A	ENST00000220597.4	-	9	1805	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	365					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GAGTTTTTTCGAAGTCTTTAA	0.507000													21	46					0	0	0.00188189	0	0
ARID2	196528	broad.mit.edu	37	12	46246257	46246257	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:46246257C>T	ENST00000334344.6	+	15	4523	c.4351C>T	c.(4351-4353)Cct>Tct	p.P1451S	ARID2_ENST00000422737.1_Missense_Mutation_p.P1302S|ARID2_ENST00000444670.1_Missense_Mutation_p.P1061S|ARID2_ENST00000457135.1_Missense_Mutation_p.P59S|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1451					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCTTAATGGACCTCTAGCTTC	0.433000			"""N, S, F"""		hepatocellular carcinoma								24	70					0	0	0.000720815	0	0
NCR1	9437	broad.mit.edu	37	19	55417934	55417934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:55417934G>A	ENST00000594765.1	+	3	149	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	NCR1_ENST00000447255.1_Missense_Mutation_p.E42K|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000598576.1_Missense_Mutation_p.E30K|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000338835.5_Missense_Mutation_p.E42K|NCR1_ENST00000291890.4_Missense_Mutation_p.E42K			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	42	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GGTTCCAAAGGAAAAGCAAGT	0.547000													73	57					0	0	0.000781405	0	0
ECEL1	9427	broad.mit.edu	37	2	233346557	233346557	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:233346557G>A	ENST00000304546.1	-	13	2009	c.1799C>T	c.(1798-1800)tCt>tTt	p.S600F	ECEL1_ENST00000409941.1_Missense_Mutation_p.S598F	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	600					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GTAGTTGAGAGACCTGGGCCC	0.682000													14	31					0	0	0.000308642	0	0
SAMD7	344658	broad.mit.edu	37	3	169644746	169644746	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:169644746C>T	ENST00000428432.2	+	6	1085	c.696C>T	c.(694-696)ccC>ccT	p.P232P	SAMD7_ENST00000335556.3_Silent_p.P232P	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	232								p.P232P(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TTGAAGCACCCAGCAACCAGA	0.483000													18	51					0	0	0.00074312	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667783	70667783	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:70667783T>A	ENST00000260126.3	-	4	1840	c.1134A>T	c.(1132-1134)aaA>aaT	p.K378N	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K378N|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K378N	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	378	Poly-Lys.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCTTTTTCTTTTTCTTGTGTC	0.368000													26	42					0	0	0.000586117	0	0
BOD1L1	259282	broad.mit.edu	37	4	13616171	13616171	+	Missense_Mutation	SNP	G	G	A	rs142892563		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:13616171G>A	ENST00000040738.5	-	4	958	c.823C>T	c.(823-825)Cca>Tca	p.P275S		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	275							DNA binding										TCAGACTTTGGGGCTGTTTCC	0.393000													20	39					0	0	0.000586117	0	0
CSMD1	64478	broad.mit.edu	37	8	3253824	3253824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:3253824G>A	ENST00000520002.1	-	18	3043	c.2488C>T	c.(2488-2490)Cac>Tac	p.H830Y	CSMD1_ENST00000542608.1_Missense_Mutation_p.H829Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.H830Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.H829Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.H829Y|CSMD1_ENST00000602557.1_Missense_Mutation_p.H830Y|CSMD1_ENST00000602723.1_Missense_Mutation_p.H830Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	830	CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGGTGCCGTGGTACTCGCCG	0.542000													6	10					0	0	0.000157383	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500135	48500135	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:48500135C>T	ENST00000396577.3	+	2	434	c.219C>T	c.(217-219)ttC>ttT	p.F73F	SLC12A1_ENST00000380993.3_Silent_p.F73F|SLC12A1_ENST00000561031.1_Silent_p.F73F|SLC12A1_ENST00000330289.6_Silent_p.F73F|SLC12A1_ENST00000558405.1_Silent_p.F73F	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	73					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATGACAATTTCCTCCAAAGTG	0.428000													47	45					0	0	0.000589545	0	0
MUC16	94025	broad.mit.edu	37	19	9068232	9068232	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9068232G>A	ENST00000397910.4	-	3	19417	c.19214C>T	c.(19213-19215)tCc>tTc	p.S6405F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6407	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						TCTGCTAGAGGAGGTGAGTTC	0.498000													20	48					0	0	0.00121646	0	0
ZC3H18	124245	broad.mit.edu	37	16	88688784	88688784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:88688784C>T	ENST00000301011.5	+	9	1855	c.1655C>T	c.(1654-1656)tCt>tTt	p.S552F	ZC3H18_ENST00000452588.2_Missense_Mutation_p.S576F	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	552	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCCTCTGCCTCTAATTCCTCC	0.617000													8	10					0	0	0.000157383	0	0
FAM181A	90050	broad.mit.edu	37	14	94391507	94391507	+	Translation_Start_Site	SNP	A	A	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:94391507A>T	ENST00000267594.5	+	0	197				FAM181A_ENST00000557719.1_Intron|FAM181A-AS1_ENST00000554742.1_RNA	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A											cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CTGGCTAAGAAAGGAGAGACA	0.567000													4	7					0	0	0.00024832	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582477	136582477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:136582477C>T	ENST00000531224.1	-	12	2935	c.2683G>A	c.(2683-2685)Gat>Aat	p.D895N	BCLAF1_ENST00000031135.9_Missense_Mutation_p.D113N|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D722N|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D844N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D846N|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D844N|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D893N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	895					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACAATCCCATCCCCTTGGTAT	0.403000													19	196					0	0	0.00188189	0	0
SPPL2A	84888	broad.mit.edu	37	15	51012216	51012216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:51012216G>A	ENST00000261854.5	-	14	1683	c.1409C>T	c.(1408-1410)cCt>cTt	p.P470L		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	470						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		AAGTGTGCAAGGTACTAAATA	0.413000													38	32					0	0	0.00148497	0	0
RIPPLY1	92129	broad.mit.edu	37	X	106144060	106144060	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:106144060C>G	ENST00000276173.4	-	4	404	c.375G>C	c.(373-375)caG>caC	p.Q125H	RIPPLY1_ENST00000411805.1_Missense_Mutation_p.Q78H|CLDN2_ENST00000541806.1_Intron	NM_138382.2	NP_612391.1	Q0D2K3	RIPP1_HUMAN	ripply transcriptional repressor 1	125	Ripply homology domain.				negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus				lung(1)|urinary_tract(1)	2						TGATGGTTGCCTGGACAGGAA	0.493000													14	2					0	0	0.000422831	0	0
PZP	5858	broad.mit.edu	37	12	9349172	9349172	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:9349172C>T	ENST00000261336.2	-	9	1005	c.977G>A	c.(976-978)gGg>gAg	p.G326E	PZP_ENST00000381997.2_Missense_Mutation_p.G195E	NM_002864.2	NP_002855.2			pregnancy-zone protein											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						CACACCTGTCCCCTCTTCTCT	0.368000													46	34					0	0	0.000781405	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021159	73021159	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:73021159G>A	ENST00000263674.3	+	1	1826	c.1476G>A	c.(1474-1476)ggG>ggA	p.G492G		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	492					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AACCTGGTGGGAGCTCCGGGG	0.597000													27	25					0	0	0.0024448	0	0
SAMD7	344658	broad.mit.edu	37	3	169656227	169656227	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:169656227T>A	ENST00000428432.2	+	9	1663	c.1274T>A	c.(1273-1275)aTg>aAg	p.M425K	SAMD7_ENST00000335556.3_Missense_Mutation_p.M425K	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	425										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGTGATACAATGAACATTTTT	0.388000													26	35					0	0	0.000878237	0	0
ANO2	57101	broad.mit.edu	37	12	5685149	5685149	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:5685149G>A	ENST00000356134.5	-	25	2546	c.2475C>T	c.(2473-2475)atC>atT	p.I825I	ANO2_ENST00000546188.1_Silent_p.I825I|ANO2_ENST00000327087.8_Silent_p.I824I	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	829						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						CCAGGCGGGGGATAAAGTCGG	0.517000													7	9					0	0	0.00198382	0	0
STON1	11037	broad.mit.edu	37	2	48809238	48809238	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:48809238A>T	ENST00000309835.3	+	1	1476	c.1466A>T	c.(1465-1467)aAg>aTg	p.K489M	STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.K489M|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.K489M|STON1_ENST00000406226.1_Missense_Mutation_p.K489M|STON1_ENST00000404752.1_Missense_Mutation_p.K489M|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.K489M|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.K489M|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.K489M					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CATTTTCATAAGTGTGTGAAT	0.378000													18	55					0	0	0.00074312	0	0
BAI2	576	broad.mit.edu	37	1	32207543	32207543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:32207543C>T	ENST00000373658.3	-	9	1784	c.1443G>A	c.(1441-1443)tgG>tgA	p.W481*	BAI2_ENST00000440175.2_Nonsense_Mutation_p.W123*|BAI2_ENST00000398538.1_Nonsense_Mutation_p.W469*|BAI2_ENST00000257070.4_Nonsense_Mutation_p.W481*|BAI2_ENST00000398556.3_Nonsense_Mutation_p.W429*|BAI2_ENST00000373655.2_Nonsense_Mutation_p.W481*|BAI2_ENST00000398542.1_Nonsense_Mutation_p.W414*|BAI2_ENST00000398547.1_Nonsense_Mutation_p.W414*|BAI2_ENST00000527361.1_Nonsense_Mutation_p.W481*	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	481	TSP type-1 4.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TCCACGCATTCCATGGCCCCC	0.642000													57	29					0	0	0.000781405	0	0
JPH3	57338	broad.mit.edu	37	16	87678642	87678642	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:87678642G>A	ENST00000284262.2	+	2	1402		c.e2+1			NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3						calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGGCTTCCAGGTAGGAGGGCG	0.672000													10	7					0	0	0.00185496	0	0
TRAV22	28661	broad.mit.edu	37	14	22539378	22539378	+	RNA	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:22539378A>G	ENST00000390450.3	+	0	371																											TGGAAGATTAAGCGCCACGAC	0.473000													38	20					0	0	0.00128727	0	0
MAN2C1	4123	broad.mit.edu	37	15	75648741	75648741	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:75648741G>A	ENST00000565683.1	-	24	2849	c.2838C>T	c.(2836-2838)ttC>ttT	p.F946F	MAN2C1_ENST00000267978.5_Silent_p.F929F|MAN2C1_ENST00000569482.1_Intron|MAN2C1_ENST00000563622.1_Silent_p.F830F	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	929					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CCAACAGGGGGAAGTTTAGGC	0.617000													10	23					0	0	0.000978159	0	0
OTOF	9381	broad.mit.edu	37	2	26702507	26702507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:26702507C>T	ENST00000272371.2	-	17	2053	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	OTOF_ENST00000403946.3_Missense_Mutation_p.E643K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	643					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCAACTTCGTTCCCATAG	0.627000													12	49					0	0	0.000422831	0	0
GPR114	221188	broad.mit.edu	37	16	57596024	57596024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:57596024C>T	ENST00000340339.4	+	2	542	c.19C>T	c.(19-21)Ctt>Ttt	p.L7F	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.L7F	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	7					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CTGTGGTGCCCTTTTCCTGTG	0.552000													21	55					0	0	0.000375601	0	0
ENGASE	64772	broad.mit.edu	37	17	77079621	77079621	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:77079621C>T	ENST00000579016.1	+	9	1200	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	400						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCTTGCCTTTCGTCACGTCCT	0.627000													26	24					0	0	0.000491102	0	0
IRF6	3664	broad.mit.edu	37	1	209964072	209964072	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:209964072G>A	ENST00000367021.3	-	7	1000	c.828C>T	c.(826-828)ttC>ttT	p.F276F	IRF6_ENST00000542854.1_Silent_p.F181F	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	276					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CAGGACCTGGGAATTTGACCT	0.567000										HNSCC(57;0.16)			35	31					0	0	0.000814825	0	0
TPH1	7166	broad.mit.edu	37	11	18062275	18062275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:18062275G>A	ENST00000250018.2	-	1	597	c.35C>T	c.(34-36)tCc>tTc	p.S12F	TPH1_ENST00000341556.2_Missense_Mutation_p.S12F	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	12					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	CCTTTCTAAGGAATGGTCTTT	0.333000													7	36					0	0	0.00198382	0	0
ABCC6	368	broad.mit.edu	37	16	16284205	16284205	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:16284205T>A	ENST00000205557.7	-	12	1480	c.1451A>T	c.(1450-1452)aAg>aTg	p.K484M	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	484	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CCGTGAGTCCTTCTGCCTCAT	0.562000													17	43					0	0	0.00121646	0	0
SHROOM1	134549	broad.mit.edu	37	5	132161667	132161667	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:132161667G>A	ENST00000378679.3	-	4	970	c.166C>T	c.(166-168)Cct>Tct	p.P56S	SHROOM1_ENST00000378676.1_Missense_Mutation_p.P56S|SHROOM1_ENST00000319854.3_Missense_Mutation_p.P56S	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	56					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTAGGTAAGGAAGGAGGTCT	0.731000													4	5					0	0	0.00024832	0	0
ADAM2	2515	broad.mit.edu	37	8	39678582	39678582	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:39678582G>A	ENST00000265708.4	-	6	555	c.452C>T	c.(451-453)tCc>tTc	p.S151F	ADAM2_ENST00000347580.4_Missense_Mutation_p.S151F|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000521880.1_Missense_Mutation_p.S151F|ADAM2_ENST00000379853.2_Missense_Mutation_p.S151F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	151					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.S151F(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ATTATATAAGGAAACATCTGC	0.323000													34	60					0	0	0.000692331	0	0
COL3A1	1281	broad.mit.edu	37	2	189873725	189873725	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:189873725G>A	ENST00000304636.3	+	48	3771	c.3601G>A	c.(3601-3603)Gga>Aga	p.G1201R	COL3A1_ENST00000317840.5_Missense_Mutation_p.G898R	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1201	Nonhelical region (C-terminal).				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTGGTGTTGGAGCCGCTGC	0.542000													42	41					0	0	0.00195071	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643785	37643785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:37643785G>A	ENST00000356958.4	-	5	1274	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Missense_Mutation_p.S284F|ZNF585A_ENST00000392157.2_Missense_Mutation_p.S284F|ZNF585A_ENST00000292841.5_Missense_Mutation_p.S284F			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACGAGGTTGGAATTATTGCT	0.398000													28	57					0	0	0.00127121	0	0
ARHGAP1	392	broad.mit.edu	37	11	46702650	46702650	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:46702650G>A	ENST00000311956.4	-	7	643	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	182	CRAL-TRIO.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TCTTCTGCCCGAACTTGAAGC	0.602000													15	44					0	0	0.000422831	0	0
XPR1	9213	broad.mit.edu	37	1	180775261	180775261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:180775261C>T	ENST00000367590.4	+	5	709	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	XPR1_ENST00000367589.3_Missense_Mutation_p.R171C	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	171	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GGAAACATCTCGTGGAGCAGA	0.393000													31	17					0	0	0.001512	0	0
TCTN2	79867	broad.mit.edu	37	12	124191312	124191312	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:124191312C>T	ENST00000303372.5	+	16	1937	c.1809C>T	c.(1807-1809)acC>acT	p.T603T	TCTN2_ENST00000426174.2_Silent_p.T602T	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	603					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GTGGGCTTACCTGTGAGCACA	0.502000													42	30					0	0	0.000589545	0	0
WDR62	284403	broad.mit.edu	37	19	36572341	36572341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:36572341C>T	ENST00000401500.2	+	10	1275	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	WDR62_ENST00000388999.3_Missense_Mutation_p.P414S|WDR62_ENST00000270301.7_Missense_Mutation_p.P414S	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	414					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTAGGTGTATCCTGAGTTTGA	0.428000													57	91					0	0	0.000781405	0	0
DZIP1	22873	broad.mit.edu	37	13	96239907	96239907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:96239907G>A	ENST00000347108.3	-	18	2536	c.2104C>T	c.(2104-2106)Cct>Tct	p.P702S	DZIP1_ENST00000376829.2_Missense_Mutation_p.P702S|DZIP1_ENST00000361156.3_Missense_Mutation_p.P683S|DZIP1_ENST00000361396.2_Missense_Mutation_p.P683S			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	702					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GGCGGCACAGGAAGTGGGCCT	0.562000													19	40					0	0	0.000375601	0	0
GRIN2A	2903	broad.mit.edu	37	16	9916154	9916154	+	Missense_Mutation	SNP	C	C	T	rs143031592		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:9916154C>T	ENST00000396573.2	-	11	2444	c.2135G>A	c.(2134-2136)gGa>gAa	p.G712E	GRIN2A_ENST00000404927.2_Missense_Mutation_p.G712E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G555E|GRIN2A_ENST00000330684.3_Missense_Mutation_p.G712E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G712E|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G712E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	712					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.G712E(1)		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)	GTCCTCTACTCCTTTCTGATT	0.458000													16	63					0	0	0.000566183	0	0
FBN2	2201	broad.mit.edu	37	5	127616001	127616001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:127616001C>T	ENST00000508053.1	-	62	7995	c.7021G>A	c.(7021-7023)Gaa>Aaa	p.E2341K	FBN2_ENST00000262464.4_Missense_Mutation_p.E2341K			P35556	FBN2_HUMAN	fibrillin 2	2341	EGF-like 40; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTCCTGCATTCATTTTCATCT	0.318000													14	41					0	0	0.000308642	0	0
TNS4	84951	broad.mit.edu	37	17	38652406	38652406	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:38652406G>A	ENST00000254051.6	-	2	430	c.272C>T	c.(271-273)cCa>cTa	p.P91L		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	91					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AAGGTCCTCTGGGGTCCCCAA	0.632000													53	7					0	0	0.000781405	0	0
ICA1	3382	broad.mit.edu	37	7	8178486	8178486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:8178486C>T	ENST00000402384.3	-	12	1310	c.1044G>A	c.(1042-1044)atG>atA	p.M348I	ICA1_ENST00000422063.2_Missense_Mutation_p.M377I|ICA1_ENST00000396675.3_Missense_Mutation_p.M348I|ICA1_ENST00000406470.2_Missense_Mutation_p.M348I|ICA1_ENST00000265577.7_Missense_Mutation_p.M347I|ICA1_ENST00000401396.1_Missense_Mutation_p.M336I			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	348					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CCTCAGATTTCATGTCTAATA	0.279000													67	74					0	0	0.000781405	0	0
OR5H1	26341	broad.mit.edu	37	3	97852246	97852246	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:97852246G>A	ENST00000354565.2	+	1	705	c.705G>A	c.(703-705)agG>agA	p.R235R	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AAGGTGTAAGGAAAGCCTTTT	0.408000													66	54					0	0	0.000781405	0	0
FRS2	10818	broad.mit.edu	37	12	69965954	69965954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:69965954G>A	ENST00000299293.2	+	9	979	c.469G>A	c.(469-471)Gga>Aga	p.G157R	FRS2_ENST00000397997.2_Missense_Mutation_p.G157R|FRS2_ENST00000550389.1_Missense_Mutation_p.G157R|FRS2_ENST00000549921.1_Missense_Mutation_p.G157R	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	157					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TCCCTCATTTGGAGATGCTTC	0.493000													21	55					0	0	0.00121646	0	0
SNAP47	116841	broad.mit.edu	37	1	227947188	227947188	+	Splice_Site	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:227947188T>C	ENST00000366759.4	+	3	1537		c.e3+2		SNAP47_ENST00000315781.5_Splice_Site|SNAP47_ENST00000366760.1_Splice_Site	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa							endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGCATGCAGGTTAGTGACCGA	0.527000													83	51					0	0	0.000781405	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508517	106508517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:106508517G>A	ENST00000359195.3	+	2	821	c.511G>A	c.(511-513)Gat>Aat	p.D171N	PIK3CG_ENST00000496166.1_Missense_Mutation_p.D171N|PIK3CG_ENST00000440650.2_Missense_Mutation_p.D171N	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	171					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CGTGCACGACGATGAGCTGGA	0.677000													14	61					0	0	0.00185496	0	0
CDS2	8760	broad.mit.edu	37	20	5154251	5154251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:5154251C>T	ENST00000460006.1	+	2	447	c.140C>T	c.(139-141)tCt>tTt	p.S47F	CDS2_ENST00000379062.4_Intron	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	47					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						CTGCCAGTCTCTGCAGATGAT	0.532000													114	75					0	0	0.000781405	0	0
SLC9A9	285195	broad.mit.edu	37	3	143550971	143550971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:143550971G>A	ENST00000316549.6	-	2	476	c.268C>T	c.(268-270)Cca>Tca	p.P90S		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	90					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AGAGTTGATGGACTGAAAGTT	0.338000													46	66					0	0	0.000781405	0	0
DLL4	54567	broad.mit.edu	37	15	41224580	41224580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:41224580G>A	ENST00000249749.5	+	6	1061	c.785G>A	c.(784-786)gGc>gAc	p.G262D		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	262	EGF-like 2.				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGTCGCCACGGCACCTGCAGC	0.612000													61	69					0	0	0.000781405	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133948557	133948557	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:133948557G>A	ENST00000298622.4	+	4	1000	c.862G>A	c.(862-864)Gat>Aat	p.D288N		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		ACAGCAGTTGGATGAAAAAGA	0.483000													29	5					0	0	0.00178596	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308012	140308012	+	Missense_Mutation	SNP	C	C	T	rs137957181		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140308012C>T	ENST00000253807.2	+	1	1535	c.1535C>T	c.(1534-1536)tCc>tTc	p.S512F	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S512F|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAAAACTTCCTTTGACTTT	0.493000													25	69					0	0	0.00047179	0	0
IGHV1-24	28467	broad.mit.edu	37	14	106733222	106733222	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:106733222C>T	ENST00000390610.2	-	0	332																											TAGATGTGTCCTCGGTCATGG	0.512000													59	148					0	0	0.000781405	0	0
AZU1	566	broad.mit.edu	37	19	831860	831860	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:831860G>A	ENST00000233997.2	+	5	760	c.739G>A	c.(739-741)Gga>Aga	p.G247R		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	247					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACAACCCGGGACCGGGGCC	0.706000													42	34					0	0	0.000781405	0	0
OR51E2	81285	broad.mit.edu	37	11	4703277	4703277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:4703277C>T	ENST00000396950.3	-	2	904	c.665G>A	c.(664-666)cGa>cAa	p.R222Q		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAGAACCGTTCGTATTATCAG	0.488000													18	26					0	0	0.00121646	0	0
MVD	4597	broad.mit.edu	37	16	88723906	88723906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:88723906G>A	ENST00000301012.3	-	4	370	c.341C>T	c.(340-342)tCg>tTg	p.S114L	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	114					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GTTGTTCACCGATGCCACGTG	0.677000													12	30					0	0	0.000308642	0	0
DUOX2	50506	broad.mit.edu	37	15	45393430	45393430	+	Missense_Mutation	SNP	G	G	A	rs144153950		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:45393430G>A	ENST00000389039.6	-	22	3279	c.2894C>T	c.(2893-2895)tCg>tTg	p.S965L	DUOX2_ENST00000603300.1_Missense_Mutation_p.S965L			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	965	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGTGATGAACGAGACTCGACA	0.542000													8	14					0	0	0.000157383	0	0
BOD1L1	259282	broad.mit.edu	37	4	13603467	13603467	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:13603467C>T	ENST00000040738.5	-	10	5192	c.5057G>A	c.(5056-5058)aGt>aAt	p.S1686N		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1686							DNA binding										TGCTCCATCACTTTCAACTTC	0.418000													96	130					0	0	0.000781405	0	0
REG1A	5967	broad.mit.edu	37	2	79349251	79349251	+	Splice_Site	SNP	G	G	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:79349251G>T	ENST00000233735.1	+	4	424	c.321_splice	c.e4+1	p.K107_splice		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	107	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						ACCCCAAAAAGGTAGGCTGCA	0.488000													34	45					4.62619e-21	2.23343e-20	0.000814825	1	0
ZNF572	137209	broad.mit.edu	37	8	125988914	125988914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:125988914C>T	ENST00000319286.5	+	3	558	c.404C>T	c.(403-405)tCc>tTc	p.S135F		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TATAAATGTTCCGAATGTTGG	0.438000										HNSCC(60;0.17)			64	53					0	0	0.000781405	0	0
OR10T2	128360	broad.mit.edu	37	1	158368976	158368976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:158368976G>A	ENST00000334438.1	-	1	280	c.281C>T	c.(280-282)tCc>tTc	p.S94F		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GGCCATGAAGGAGATGGTCTT	0.478000													24	21					0	0	0.00047179	0	0
SLIT3	6586	broad.mit.edu	37	5	168671773	168671773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:168671773C>T	ENST00000519560.1	-	3	696	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	SLIT3_ENST00000332966.8_Missense_Mutation_p.E93K|SLIT3_ENST00000404867.3_Missense_Mutation_p.E93K|SLIT3_ENST00000521130.1_5'UTR	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	93					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTTGTCTTCCAGATGCCTA	0.517000													10	25					0	0	0.000219431	0	0
ALPK3	57538	broad.mit.edu	37	15	85411371	85411371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:85411371C>T	ENST00000258888.5	+	14	5575	c.5408C>T	c.(5407-5409)cCt>cTt	p.P1803L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1803	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.P1803L(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCTGCTTCCCTGCCCTGCTG	0.647000													30	102					0	0	0.000692331	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125844543	125844543	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:125844543G>A	ENST00000393434.2	-	15	2065	c.1716C>T	c.(1714-1716)ccC>ccT	p.P572P	ALDH1L1_ENST00000452905.2_Silent_p.P471P|ALDH1L1_ENST00000273450.3_Silent_p.P582P|ALDH1L1_ENST00000472186.1_Silent_p.P572P|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	572	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GATAGTTCCAGGGGATGATGA	0.577000													26	34					0	0	0.000720815	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763506	110763506	+	Missense_Mutation	SNP	G	G	A	rs146329765	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:110763506G>A	ENST00000368919.3	-	4	1190	c.1124C>T	c.(1123-1125)tCg>tTg	p.S375L	SLC22A16_ENST00000330550.4_Missense_Mutation_p.S341L|SLC22A16_ENST00000439654.1_Missense_Mutation_p.S375L	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	375					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CAAGGAAAACGAGTAGAATCC	0.383000													29	7					0	0	0.00106085	0	0
COL4A2	1284	broad.mit.edu	37	13	111111224	111111224	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:111111224G>A	ENST00000360467.5	+	22	1845	c.1539G>A	c.(1537-1539)agG>agA	p.R513R	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	513	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGCCGGGGAGGAAAGGGGACA	0.602000													27	28					0	0	0.000720815	0	0
UBE3B	89910	broad.mit.edu	37	12	109936079	109936079	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:109936079C>T	ENST00000342494.3	+	11	1456	c.861C>T	c.(859-861)ttC>ttT	p.F287F	UBE3B_ENST00000280774.5_Silent_p.F287F|UBE3B_ENST00000434735.2_Silent_p.F287F	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	287					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TTCGTAAATTCATCATATTTT	0.418000													55	112					0	0	0.000781405	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41739503	41739503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:41739503C>T	ENST00000352645.4	+	13	1639	c.1382C>T	c.(1381-1383)tCg>tTg	p.S461L	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S461L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	477					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTCCGGAGCTCGGAGGACCAG	0.677000													44	45					0	0	0.000589545	0	0
ZNF398	57541	broad.mit.edu	37	7	148863939	148863939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:148863939C>T	ENST00000420008.2	+	4	853	c.65C>T	c.(64-66)tCt>tTt	p.S22F	ZNF398_ENST00000335901.4_Missense_Mutation_p.S22F|ZNF398_ENST00000491174.1_Missense_Mutation_p.S22F|ZNF398_ENST00000483892.1_Missense_Mutation_p.S22F|ZNF398_ENST00000540950.1_Missense_Mutation_p.S198F|ZNF398_ENST00000426851.2_Missense_Mutation_p.S22F|ZNF398_ENST00000475153.1_Missense_Mutation_p.S193F	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	193					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GATGTCTTATCTCAGATTCAA	0.428000													15	3					0	0	0.000422831	0	0
GRM2	2912	broad.mit.edu	37	3	51749229	51749229	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:51749229G>A	ENST00000395052.3	+	4	1674	c.1440G>A	c.(1438-1440)ctG>ctA	p.L480L	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	480					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GCTTGACTCTGGACACCAGCC	0.617000													9	0					0	0	0.000442599	0	0
NCOA1	8648	broad.mit.edu	37	2	24952581	24952581	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:24952581C>T	ENST00000405141.1	+	18	3809	c.3098C>T	c.(3097-3099)tCa>tTa	p.S1033L	NCOA1_ENST00000395856.3_Missense_Mutation_p.S1033L|NCOA1_ENST00000406961.1_Missense_Mutation_p.S1033L|NCOA1_ENST00000538539.1_Missense_Mutation_p.S1033L|NCOA1_ENST00000288599.5_Missense_Mutation_p.S1033L|NCOA1_ENST00000348332.3_Missense_Mutation_p.S1033L|NCOA1_ENST00000407230.1_Missense_Mutation_p.S882L			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1033									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGCTTTTTCACCTGGCATG	0.542000			T	PAX3	alveolar rhadomyosarcoma								24	94					0	0	0.00047179	0	0
SAMD9	54809	broad.mit.edu	37	7	92731876	92731876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:92731876C>T	ENST00000379958.2	-	3	3804	c.3535G>A	c.(3535-3537)Gaa>Aaa	p.E1179K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1179						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TACAATCTTTCCTTCACTTCA	0.373000													179	66					0	0	0.000781405	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559618	140559618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140559618C>T	ENST00000239444.2	+	1	2248	c.2003C>T	c.(2002-2004)tCc>tTc	p.S668F		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		668	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACGGCTTCTCCCAGCCCTAC	0.687000													29	26					0	0	0.00209593	0	0
TRPV1	7442	broad.mit.edu	37	17	3477212	3477212	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:3477212G>A	ENST00000174621.6	-	12	2101	c.1812C>T	c.(1810-1812)tcC>tcT	p.S604S	TRPV1_ENST00000576351.1_Silent_p.S596S|TRPV1_ENST00000399759.3_Silent_p.S606S|TRPV1_ENST00000425167.2_Silent_p.S617S|TRPV1_ENST00000571088.1_Silent_p.S606S|TRPV1_ENST00000399756.4_Silent_p.S606S|SHPK_ENST00000572705.1_Silent_p.S606S|TRPV1_ENST00000310522.5_Silent_p.S546S			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	606					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CAGACGGCAGGGAGTCATTCT	0.622000													46	1					0	0	0.000781405	0	0
SOX10	6663	broad.mit.edu	37	22	38370151	38370151	+	Missense_Mutation	SNP	G	G	A	rs74315518		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:38370151G>A	ENST00000396884.2	-	4	1034	c.752C>T	c.(751-753)tCg>tTg	p.S251L	POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.S251L	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	251						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					TGCCTTGCCCGACTGCAGCTC	0.652000													102	169					0	0	0.000781405	0	0
OR4C3	256144	broad.mit.edu	37	11	48346564	48346564	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:48346564C>T	ENST00000319856.4	+	1	93	c.72C>T	c.(70-72)acC>acT	p.T24T		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCTCAGTGACCTTGGAATCTA	0.393000													41	76					0	0	0.00170553	0	0
TK2	7084	broad.mit.edu	37	16	66565282	66565282	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:66565282C>T	ENST00000299697.7	-	5	726		c.e5+1		TK2_ENST00000527800.1_Splice_Site|TK2_ENST00000564917.1_Splice_Site|TK2_ENST00000525974.1_Splice_Site|TK2_ENST00000563369.2_Splice_Site|TK2_ENST00000545043.2_Splice_Site|TK2_ENST00000417693.3_Splice_Site|TK2_ENST00000544898.1_Splice_Site|TK2_ENST00000451102.2_Splice_Site|TK2_ENST00000527284.1_Splice_Site	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial						pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		CTGAAACCTACCTGAGGACGA	0.512000													5	26					0	0	0.000602214	0	0
MBD5	55777	broad.mit.edu	37	2	149226928	149226928	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:149226928C>T	ENST00000407073.1	+	9	2413	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	MBD5_ENST00000404807.1_Silent_p.F472F	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	472						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATGGAAATTTCATGATGCCAC	0.512000													26	27					0	0	0.000586117	0	0
UBASH3A	53347	broad.mit.edu	37	21	43852251	43852251	+	Missense_Mutation	SNP	G	G	A	rs151042130		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:43852251G>A	ENST00000319294.6	+	9	1241	c.1210G>A	c.(1210-1212)Ggg>Agg	p.G404R	UBASH3A_ENST00000291535.6_Missense_Mutation_p.G366R|UBASH3A_ENST00000398367.1_Missense_Mutation_p.G366R	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	404	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GGTTCGCCACGGGGAGAGAGT	0.572000													5	15					0	0	0.00198382	0	0
SDK2	54549	broad.mit.edu	37	17	71334736	71334736	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:71334736G>A	ENST00000392650.3	-	45	6509	c.6509C>T	c.(6508-6510)tCa>tTa	p.S2170L	SDK2_ENST00000388726.3_Missense_Mutation_p.S2151L|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2170					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCAAACAAATGATGAAAATCC	0.552000													7	16					0	0	0.000157383	0	0
GART	2618	broad.mit.edu	37	21	34897104	34897104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:34897104G>A	ENST00000381831.3	-	11	1533	c.1270C>T	c.(1270-1272)Cgt>Tgt	p.R424C	GART_ENST00000381815.4_Missense_Mutation_p.R424C|GART_ENST00000361093.5_Missense_Mutation_p.R424C|GART_ENST00000381839.3_Missense_Mutation_p.R424C	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	424					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GCTATGGCACGAAAGCCGACG	0.448000													53	31					0	0	0.000781405	0	0
SCAND3	114821	broad.mit.edu	37	6	28542663	28542663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:28542663C>T	ENST00000452236.2	-	3	2436	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	607					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CATTCTTTTTCACAAACTACA	0.418000													28	26					0	0	0.00127121	0	0
PCDH20	64881	broad.mit.edu	37	13	61986455	61986455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:61986455C>T	ENST00000409186.1	-	5	3882	c.1777G>A	c.(1777-1779)Gtt>Att	p.V593I	PCDH20_ENST00000409204.4_Missense_Mutation_p.V593I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	566	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGAGTAGAAACTGTCAGAATT	0.473000													46	29					0	0	0.000781405	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21353449	21353449	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:21353449C>T	ENST00000256958.2	+	9	1074	c.978C>T	c.(976-978)ttC>ttT	p.F326F		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	326					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CAGGTTTTTTCCAGTCTTTTA	0.274000													9	18					0	0	0.000274275	0	0
POLR1A	25885	broad.mit.edu	37	2	86272890	86272890	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:86272890G>A	ENST00000263857.6	-	20	3114	c.2736C>T	c.(2734-2736)atC>atT	p.I912I	POLR1A_ENST00000409681.1_Silent_p.I912I			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	912					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GCAGGCACGAGATCTGGAGGA	0.517000													29	33					0	0	0.001512	0	0
IRF8	3394	broad.mit.edu	37	16	85936699	85936699	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:85936699G>A	ENST00000268638.5	+	2	500	c.78G>A	c.(76-78)ctG>ctA	p.L26L	IRF8_ENST00000563180.1_Silent_p.L26L	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	26					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				ATCCAGGACTGATTTGGGAGA	0.483000													87	52					0	0	0.000781405	0	0
SI	6476	broad.mit.edu	37	3	164724636	164724636	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:164724636G>A	ENST00000264382.3	-	37	4436	c.4374C>T	c.(4372-4374)ctC>ctT	p.L1458L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1458	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACCATCCATAGAGATTGTGAA	0.348000										HNSCC(35;0.089)			26	27					0	0	0.000878237	0	0
DDX41	51428	broad.mit.edu	37	5	176939793	176939793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:176939793G>A	ENST00000507955.1	-	13	1910	c.1387C>T	c.(1387-1389)Cat>Tat	p.H463Y		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	463	Helicase C-terminal.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TTGCCCCCATGGATGGCTACG	0.587000													67	57					0	0	0.000781405	0	0
ACY3	91703	broad.mit.edu	37	11	67410210	67410210	+	Silent	SNP	C	C	T	rs139551384		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:67410210C>T	ENST00000255082.3	-	8	1115	c.945G>A	c.(943-945)ccG>ccA	p.P315P	ACY3_ENST00000529256.1_Silent_p.P194P	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	315					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	AAGCTGGGCTCGGGGCAGGGG	0.582000													57	36					0	0	0.000781405	0	0
TCF4	6925	broad.mit.edu	37	18	52927248	52927248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:52927248G>A	ENST00000354452.3	-	13	1612	c.1001C>T	c.(1000-1002)cCa>cTa	p.P334L	TCF4_ENST00000566286.1_Missense_Mutation_p.P332L|TCF4_ENST00000564403.2_Missense_Mutation_p.P340L|TCF4_ENST00000565018.2_Missense_Mutation_p.P334L|TCF4_ENST00000566279.1_Missense_Mutation_p.P274L|TCF4_ENST00000544241.2_Missense_Mutation_p.P263L|TCF4_ENST00000543082.1_Missense_Mutation_p.P292L|TCF4_ENST00000570177.2_Missense_Mutation_p.P204L|TCF4_ENST00000564999.1_Missense_Mutation_p.P334L|TCF4_ENST00000568740.1_Missense_Mutation_p.P309L|TCF4_ENST00000537856.3_Missense_Mutation_p.P204L|TCF4_ENST00000457482.3_Missense_Mutation_p.P174L|TCF4_ENST00000563760.1_Intron|TCF4_ENST00000561831.3_Missense_Mutation_p.P174L|TCF4_ENST00000537578.1_Missense_Mutation_p.P310L|TCF4_ENST00000568673.1_Missense_Mutation_p.P310L|TCF4_ENST00000561992.1_Missense_Mutation_p.P204L|TCF4_ENST00000398339.1_Missense_Mutation_p.P436L|TCF4_ENST00000570287.2_Missense_Mutation_p.P174L|TCF4_ENST00000567880.1_Missense_Mutation_p.P274L|TCF4_ENST00000564228.1_Missense_Mutation_p.P263L|TCF4_ENST00000540999.1_Missense_Mutation_p.P310L|TCF4_ENST00000356073.4_Missense_Mutation_p.P334L	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	334				P -> S (in Ref. 7; CAA36298).	positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGTGTGATCTGGAGAATAGAT	0.343000													48	70					0	0	0.000781405	0	0
LCT	3938	broad.mit.edu	37	2	136566074	136566074	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:136566074C>T	ENST00000264162.2	-	8	3853	c.3843G>A	c.(3841-3843)ccG>ccA	p.P1281P		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1281	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCTCCGTGTTCGGATTGGTCA	0.488000													72	132					0	0	0.000781405	0	0
HERC2P9	440248	broad.mit.edu	37	15	28903876	28903876	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:28903876C>T	ENST00000528584.1	+	0	640					NR_036443.1																						GATCCTGTCTCAGCCAGCTGT	0.488000													51	73					0	0	0.000781405	0	0
SGK2	10110	broad.mit.edu	37	20	42199686	42199686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:42199686C>T	ENST00000373100.1	+	9	956	c.496C>T	c.(496-498)Ctc>Ttc	p.L166F	SGK2_ENST00000373077.1_Missense_Mutation_p.L165F|SGK2_ENST00000426287.1_Missense_Mutation_p.L192F|SGK2_ENST00000423407.3_Missense_Mutation_p.L166F|SGK2_ENST00000373092.3_Missense_Mutation_p.L166F|SGK2_ENST00000341458.4_Missense_Mutation_p.L226F			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	226	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGAGAACATTCTCTTGGACTG	0.498000													59	91					0	0	0.000781405	0	0
ABCC3	8714	broad.mit.edu	37	17	48735797	48735797	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:48735797A>G	ENST00000285238.8	+	6	694	c.612_splice	c.e6-1	p.N205_splice	ABCC3_ENST00000427699.1_Splice_Site_p.N205_splice	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	205					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCCTTCTAGAACCCCTACCCT	0.582000													56	47					0	0	0.000781405	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164227	150164227	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:150164227C>T	ENST00000307271.3	+	2	1015	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	147						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGCAAGATTTCATTGAAAAAA	0.448000													22	4					0	0	0.00229938	0	0
DSCAML1	57453	broad.mit.edu	37	11	117376407	117376407	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:117376407G>A	ENST00000321322.6	-	9	2005	c.2004C>T	c.(2002-2004)tcC>tcT	p.S668S	DSCAML1_ENST00000527706.1_Silent_p.S398S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	608	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCTGGCCGATGGAGGCGGGTG	0.632000													26	3					0	0	0.00178596	0	0
STX5	6811	broad.mit.edu	37	11	62592792	62592792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:62592792G>A	ENST00000294179.3	-	7	713	c.560C>T	c.(559-561)tCc>tTc	p.S187F	STX5_ENST00000541317.1_Missense_Mutation_p.S91F|STX5_ENST00000394690.1_Missense_Mutation_p.S133F|STX5_ENST00000377897.4_Missense_Mutation_p.S187F	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	187					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						GAAGTCATTGGACATAGAAGC	0.483000													122	236					0	0	0.000781405	0	0
OR10K2	391107	broad.mit.edu	37	1	158389856	158389856	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:158389856G>A	ENST00000314902.2	-	1	800	c.801C>T	c.(799-801)tcC>tcT	p.S267S		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CCTGGCTTGAGGAGTAGTTGG	0.403000													51	24					0	0	0.000781405	0	0
SCN5A	6331	broad.mit.edu	37	3	38620944	38620944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:38620944C>T	ENST00000413689.1	-	18	3464	c.3271G>A	c.(3271-3273)Gat>Aat	p.D1091N	SCN5A_ENST00000423572.2_Missense_Mutation_p.D1090N|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1091N|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1091N|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1091N|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1090N|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1090N|SCN5A_ENST00000449557.2_Intron	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1091					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTCCTGGAATCCGGAGGGGCC	0.652000													23	13					0	0	0.00127121	0	0
MADD	8567	broad.mit.edu	37	11	47330884	47330884	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:47330884C>T	ENST00000342922.4	+	24	4164	c.3807C>T	c.(3805-3807)ttC>ttT	p.F1269F	MADD_ENST00000405573.2_Silent_p.F138F|MADD_ENST00000406482.1_Silent_p.F1226F|MADD_ENST00000402192.2_Silent_p.F1268F|MADD_ENST00000349238.3_Silent_p.F1289F|MADD_ENST00000311027.5_Silent_p.F1328F|MADD_ENST00000395344.3_Silent_p.F1222F|MADD_ENST00000407859.3_Silent_p.F1246F|MADD_ENST00000402799.1_Silent_p.F1226F|MADD_ENST00000395336.3_Silent_p.F1328F	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1328					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AAGATGCCTTCTTAGATGCTG	0.453000													53	22					0	0	0.000781405	0	0
RCOR3	55758	broad.mit.edu	37	1	211462668	211462668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:211462668C>T	ENST00000367005.4	+	7	836	c.695C>T	c.(694-696)tCc>tTc	p.S232F	RCOR3_ENST00000367006.4_Missense_Mutation_p.S290F|RCOR3_ENST00000452621.2_Missense_Mutation_p.S290F|RCOR3_ENST00000419091.2_Missense_Mutation_p.S290F	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GTAGCAGTTTCCTGTAGTCCC	0.413000													20	45					0	0	0.00121646	0	0
APOB	338	broad.mit.edu	37	2	21227176	21227176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:21227176C>T	ENST00000233242.1	-	28	12179	c.12052G>A	c.(12052-12054)Gac>Aac	p.D4018N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4018					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTAGAAAAGTCGTCATCTTCA	0.507000													269	157					0	0	0.000781405	0	0
ZNF283	284349	broad.mit.edu	37	19	44352446	44352446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:44352446C>T	ENST00000324461.7	+	7	1990	c.1693C>T	c.(1693-1695)Cat>Tat	p.H565Y	ZNF283_ENST00000588797.1_Missense_Mutation_p.H426Y	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TCAGAAAATTCATACCGGTGA	0.418000													10	31					0	0	0.000673444	0	0
TIMD4	91937	broad.mit.edu	37	5	156375464	156375464	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:156375464C>T	ENST00000274532.2	-	5	863	c.807G>A	c.(805-807)tgG>tgA	p.W269*	TIMD4_ENST00000407087.3_Intron	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	269	Ser-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTCGTTTTCCACATTGACA	0.353000													70	145					0	0	0.000781405	0	0
RTEL1	51750	broad.mit.edu	37	20	62316898	62316898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:62316898C>T	ENST00000318100.4	+	15	2041	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	RTEL1_ENST00000508582.2_Missense_Mutation_p.S429F|RTEL1_ENST00000370018.3_Missense_Mutation_p.S405F|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S405F|RTEL1_ENST00000360203.5_Missense_Mutation_p.S405F			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	405					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GTGGACCCCTCCGAGGGCAGC	0.632000													20	39					0	0	0.000375601	0	0
PON1	5444	broad.mit.edu	37	7	94928282	94928282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:94928282G>A	ENST00000222381.3	-	9	1273	c.1042C>T	c.(1042-1044)Cac>Tac	p.H348Y	PON1_ENST00000542556.1_Missense_Mutation_p.H348Y	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	348					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	AGAGCTTTGTGAAACACTGTG	0.463000													17	90					0	0	0.00074312	0	0
AVEN	57099	broad.mit.edu	37	15	34159738	34159738	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:34159738G>A	ENST00000306730.3	-	5	1060	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L		NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	311					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		TTGGATTTCAGGTCCTGAGAC	0.423000													37	59					0	0	0.00148497	0	0
MTOR	2475	broad.mit.edu	37	1	11190630	11190630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:11190630C>T	ENST00000361445.4	-	39	5645	c.5569G>A	c.(5569-5571)Gag>Aag	p.E1857K	MTOR_ENST00000376838.1_Missense_Mutation_p.E62K	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1857	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GGGCTGTTCTCGGTGCTCTCG	0.612000													59	7					0	0	0.000781405	0	0
LOC440040	440040	broad.mit.edu	37	11	49597918	49597918	+	RNA	SNP	T	T	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:49597918T>A	ENST00000527477.1	+	0	522																											TGGAGCTCTCTTTTCTGTTCA	0.512000													14	5					0	0	0.000219431	0	0
PUM1	9698	broad.mit.edu	37	1	31409621	31409621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:31409621C>T	ENST00000373747.3	-	21	3406	c.3307G>A	c.(3307-3309)Gag>Aag	p.E1103K	PUM1_ENST00000257075.5_Missense_Mutation_p.E1100K|PUM1_ENST00000440538.2_Missense_Mutation_p.E1076K|PUM1_ENST00000426105.2_Missense_Mutation_p.E1102K|PUM1_ENST00000424085.2_Missense_Mutation_p.E858K|PUM1_ENST00000423018.2_Missense_Mutation_p.E958K|PUM1_ENST00000373741.4_Missense_Mutation_p.E1138K|PUM1_ENST00000373742.2_Missense_Mutation_p.E1041K	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1100	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GTGCACACCTCATCGATGAGC	0.507000													68	29					0	0	0.000781405	0	0
ZNF573	126231	broad.mit.edu	37	19	38229581	38229581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:38229581G>A	ENST00000339503.4	-	8	2137	c.1636C>T	c.(1636-1638)Cat>Tat	p.H546Y	ZNF573_ENST00000392138.1_Missense_Mutation_p.H517Y|ZNF573_ENST00000357309.3_Missense_Mutation_p.H516Y|ZNF573_ENST00000590414.2_Missense_Mutation_p.H604Y|ZNF573_ENST00000536220.1_Missense_Mutation_p.H516Y	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H546Y(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			CCACCAGTATGAATTTTCTGA	0.388000													23	29					0	0	0.000375601	0	0
LRBA	987	broad.mit.edu	37	4	151186938	151186938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:151186938C>T	ENST00000535741.1	-	57	8968	c.8495G>A	c.(8494-8496)gGa>gAa	p.G2832E	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.G2831E|LRBA_ENST00000357115.3_Missense_Mutation_p.G2843E			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2843						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CACAATGCTTCCTGAAGCCAT	0.463000													29	7					0	0	0.00178596	0	0
KLHDC4	54758	broad.mit.edu	37	16	87788820	87788820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:87788820G>A	ENST00000270583.5	-	4	407	c.349C>T	c.(349-351)Ccg>Tcg	p.P117S	KLHDC4_ENST00000353170.5_Missense_Mutation_p.P60S|KLHDC4_ENST00000347925.5_Missense_Mutation_p.P117S	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	117										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CAGCGCCTCGGAGGTGGACTG	0.507000													14	44					0	0	0.000566183	0	0
TTN	7273	broad.mit.edu	37	2	179428361	179428361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:179428361C>T	ENST00000589042.1	-	326	82722	c.82498G>A	c.(82498-82500)Gaa>Aaa	p.E27500K	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18627K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24932K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18560K|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18435K|TTN_ENST00000591111.1_Missense_Mutation_p.E25859K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25859	Fibronectin type-III 100.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E18435K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCTCAATTTCGGTACCTCCG	0.478000													72	110					0	0	0.000781405	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51650568	51650568	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:51650568C>T	ENST00000317643.6	+	6	1284	c.1215C>T	c.(1213-1215)gcC>gcT	p.A405A	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Silent_p.A312A	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	405					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGGGCTCAGCCTCTCAGGTGA	0.552000													8	27					0	0	0.000274275	0	0
CAPN9	10753	broad.mit.edu	37	1	230930959	230930959	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:230930959G>A	ENST00000354537.1	+	17	1925	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.D641N|CAPN9_ENST00000366666.2_Missense_Mutation_p.D578N|CAPN9_ENST00000480004.1_3'UTR	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	641	Domain IV.|EF-hand 3.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CAGGTATGCGGATGAGGAGCT	0.612000													31	16					0	0	0.0024448	0	0
CA8	767	broad.mit.edu	37	8	61178606	61178606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:61178606G>A	ENST00000317995.4	-	3	559	c.295C>T	c.(295-297)Ctt>Ttt	p.L99F		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	99					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				CCTCCCGAAAGAACTGAAAAA	0.393000													14	23					0	0	0.000422831	0	0
ZNF831	128611	broad.mit.edu	37	20	57829283	57829283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:57829283G>A	ENST00000371030.2	+	5	4519	c.4519G>A	c.(4519-4521)Gaa>Aaa	p.E1507K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1507						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CATAGCCCAGGAAATTCACAG	0.512000													40	57					0	0	0.00170553	0	0
CDH7	1005	broad.mit.edu	37	18	63547753	63547753	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:63547753G>A	ENST00000397968.2	+	12	2407	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	CDH7_ENST00000323011.3_Missense_Mutation_p.E661K	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	661					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGGGGGAGAGGAGGACACGGA	0.488000													28	58					0	0	0.00127121	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969501	140969501	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:140969501G>A	ENST00000298296.1	+	4	828	c.828G>A	c.(826-828)ctG>ctA	p.L276L	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	276	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ACCGCCTCCTGATTCTTATTC	0.507000													44	7					0	0	0.000509022	0	0
GTF3C1	2975	broad.mit.edu	37	16	27549248	27549248	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:27549248C>T	ENST00000356183.4	-	4	624	c.608_splice	c.e4-1	p.K203_splice	GTF3C1_ENST00000561623.1_Splice_Site_p.K203_splice	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	203						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CAGCATCAACCCTGGAGGAAA	0.453000													23	15					0	0	0.00229938	0	0
DHX57	90957	broad.mit.edu	37	2	39029995	39029995	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:39029995G>A	ENST00000295373.6	-	23	4005	c.3879C>T	c.(3877-3879)ttC>ttT	p.F1293F		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1293							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AGTCTCGGATGAATACTCGAC	0.483000													81	57					0	0	0.000781405	0	0
UBAP2L	9898	broad.mit.edu	37	1	154229846	154229846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:154229846C>T	ENST00000428931.1	+	20	2545	c.2378C>T	c.(2377-2379)cCt>cTt	p.P793L	UBAP2L_ENST00000271877.7_Missense_Mutation_p.P804L|UBAP2L_ENST00000361546.2_Missense_Mutation_p.P793L|UBAP2L_ENST00000343815.6_Missense_Mutation_p.P793L	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	793					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AACCTCCCTCCTGGGGTCCCG	0.473000													39	30					0	0	0.000509022	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911275	230911275	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:230911275C>T	ENST00000295190.4	-	4	1025	c.567G>A	c.(565-567)agG>agA	p.R189R		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	189						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ACATGGCATTCCTCCAGCCGT	0.592000													49	70					0	0	0.000781405	0	0
SNTG2	54221	broad.mit.edu	37	2	1094073	1094073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:1094073C>T	ENST00000308624.5	+	4	431	c.302C>T	c.(301-303)tCa>tTa	p.S101L	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	101	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GTCGTCATATCAAAAATATTC	0.378000													21	48					0	0	0.000375601	0	0
HSPG2	3339	broad.mit.edu	37	1	22173922	22173922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:22173922G>A	ENST00000374695.3	-	62	8168	c.8089C>T	c.(8089-8091)Cgg>Tgg	p.R2697W	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2697	Ig-like C2-type 12.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TTGTTGGCCCGGCACACATAC	0.632000													31	95					0	0	0.0024448	0	0
SCMH1	22955	broad.mit.edu	37	1	41608760	41608760	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:41608760A>G	ENST00000402904.2	-	6	540	c.172T>C	c.(172-174)Ttc>Ctc	p.F58L	SCMH1_ENST00000361191.5_5'UTR|SCMH1_ENST00000372595.1_5'UTR|SCMH1_ENST00000337495.5_Missense_Mutation_p.F68L|SCMH1_ENST00000397171.2_5'UTR|SCMH1_ENST00000326197.7_Missense_Mutation_p.F58L|SCMH1_ENST00000372596.1_5'UTR|SCMH1_ENST00000456518.2_Missense_Mutation_p.F11L|SCMH1_ENST00000372597.1_Missense_Mutation_p.F11L|SCMH1_ENST00000397174.2_Missense_Mutation_p.F38L|SCMH1_ENST00000361705.3_Missense_Mutation_p.F11L	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	58					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CTGATCTTGAACTCGTTGCTT	0.473000													84	43					0	0	0.000781405	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751886	26751886	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:26751886C>T	ENST00000396641.2	+	2	1315	c.723C>T	c.(721-723)tcC>tcT	p.S241S	LRRC3B_ENST00000456208.2_Silent_p.S241S|LRRC3B_ENST00000417744.1_Silent_p.S241S	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	241						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						ACTTGAAATCCCTGCCAAGCA	0.433000													21	9					0	0	0.00229938	0	0
RDH8	50700	broad.mit.edu	37	19	10132293	10132293	+	Silent	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:10132293A>G	ENST00000591589.1	+	6	1053	c.864A>G	c.(862-864)aaA>aaG	p.K288K	RDH8_ENST00000171214.1_Silent_p.K268K			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	268					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCACGCTCAAAACCGTGGATT	0.612000													23	26					0	0	0.00188189	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945254	119945254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:119945254C>T	ENST00000297350.4	-	2	694	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	106					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TCCTTGCATTCGCACACGCGG	0.557000													28	56					0	0	0.000878237	0	0
MUC16	94025	broad.mit.edu	37	19	9008208	9008208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9008208G>A	ENST00000397910.4	-	41	39547	c.39344C>T	c.(39343-39345)cCc>cTc	p.P13115L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13117	SEA 7.				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						CAGGGTGTAGGGGCCCAGCTC	0.547000													75	80					0	0	0.000781405	0	0
PCDH7	5099	broad.mit.edu	37	4	30732387	30732387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:30732387C>T	ENST00000361762.2	+	2	4195	c.3187C>T	c.(3187-3189)Cca>Tca	p.P1063S	PCDH7_ENST00000543491.1_Intron	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	1063					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCGTCTACATCCATACATTAC	0.393000													17	44					0	0	0.00152264	0	0
ACAP1	9744	broad.mit.edu	37	17	7250233	7250233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:7250233C>T	ENST00000158762.3	+	13	1320	c.1114C>T	c.(1114-1116)Ccc>Tcc	p.P372S		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	372	Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGATGACAGCCCCCGGGGTCC	0.637000													67	8					0	0	0.000781405	0	0
OBSCN	84033	broad.mit.edu	37	1	228525717	228525717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:228525717G>A	ENST00000570156.2	+	78	19818	c.19744G>A	c.(19744-19746)Gaa>Aaa	p.E6582K	OBSCN_ENST00000284548.11_Missense_Mutation_p.E5625K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E5625K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E3259K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E2744K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5625	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACGCTGCGGGAAGGCCAGTA	0.632000													14	6					0	0	0.000566183	0	0
MGAM	8972	broad.mit.edu	37	7	141760157	141760157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141760157G>A	ENST00000475668.2	+	34	4160	c.4106G>A	c.(4105-4107)tGg>tAg	p.W1369*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.W1369*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1369	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)	TCTCTAGACTGGGACAGCCAA	0.483000													10	49					0	0	0.000978159	0	0
CFL1	1072	broad.mit.edu	37	11	65623156	65623156	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:65623156G>T	ENST00000525451.2	-	4	1072	c.357C>A	c.(355-357)agC>agA	p.S119R	CFL1_ENST00000524553.1_Missense_Mutation_p.S102R|CFL1_ENST00000308162.5_Missense_Mutation_p.S119R|CFL1_ENST00000534769.1_Missense_Mutation_p.S157R|CFL1_ENST00000531407.1_Missense_Mutation_p.S102R|CFL1_ENST00000531413.1_Missense_Mutation_p.S102R|CFL1_ENST00000527344.1_Missense_Mutation_p.S102R			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	119	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		CGTCCTTGGAGCTGGCATAAA	0.577000													11	47					2.68362e-12	1.28908e-11	0.00136819	1	0
TPR	7175	broad.mit.edu	37	1	186303547	186303547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:186303547G>A	ENST00000367478.3	-	36	5388	c.5092C>T	c.(5092-5094)Cgc>Tgc	p.R1698C		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1698					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.R1699C(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACCATTGGGCGGATACTAGCC	0.468000			T	NTRK1	papillary thyroid								5	97					0	0	0.00116845	0	0
DPEP3	64180	broad.mit.edu	37	16	68014061	68014061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:68014061G>A	ENST00000268793.4	-	1	671	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	75					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		AGGGTTTTGGGGGTGCCTGGC	0.692000													10	51					0	0	0.00136819	0	0
MIP	4284	broad.mit.edu	37	12	56848285	56848285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:56848285G>A	ENST00000257979.4	-	1	141	c.113C>T	c.(112-114)cCc>cTc	p.P38L	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	38					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						AACATGCAGGGGTCCAGGAGC	0.582000													45	19					0	0	0.000781405	0	0
SYPL2	284612	broad.mit.edu	37	1	110019561	110019561	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:110019561C>A	ENST00000369872.3	+	4	634	c.418C>A	c.(418-420)Cac>Aac	p.H140N	SYPL2_ENST00000401021.3_Missense_Mutation_p.H140N	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	140	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CCTGCGCTTCCACAACCTCTA	0.542000													10	406					0.00010058	0.000477734	0.00136819	1	0
RAD23A	5886	broad.mit.edu	37	19	13059062	13059062	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:13059062C>T	ENST00000586534.1	+	3	367	c.306C>T	c.(304-306)tcC>tcT	p.S102S	RAD23A_ENST00000592268.1_Silent_p.S102S|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000541222.1_5'UTR|RAD23A_ENST00000316856.3_Silent_p.S102S			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	102					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CCTCTACATCCTTCCCGCCTG	0.642000								Nucleotide excision repair (NER)					8	24					0	0	0.000274275	0	0
RGL1	23179	broad.mit.edu	37	1	183857693	183857693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:183857693C>T	ENST00000304685.3	+	9	1603	c.1142C>T	c.(1141-1143)aCt>aTt	p.T381I	RGL1_ENST00000360851.3_Missense_Mutation_p.T346I|RGL1_ENST00000367531.1_Missense_Mutation_p.T381I|RGL1_ENST00000539189.1_Missense_Mutation_p.T346I|RGL1_ENST00000536277.1_Missense_Mutation_p.T344I	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	346	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TTAAAAAAGACTTGGGCTGCC	0.468000													35	85					0	0	0.0024448	0	0
OPN5	221391	broad.mit.edu	37	6	47754355	47754355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:47754355G>A	ENST00000489301.2	+	2	320	c.235G>A	c.(235-237)Gat>Aat	p.D79N	OPN5_ENST00000393699.2_Missense_Mutation_p.D79N|OPN5_ENST00000371211.2_Missense_Mutation_p.D79N			Q6U736	OPN5_HUMAN	opsin 5	79					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AGCAGTCTGTGATCTGGGGAT	0.418000													42	33					0	0	0.000781405	0	0
OR4L1	122742	broad.mit.edu	37	14	20528335	20528335	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:20528335C>T	ENST00000315683.1	+	1	132	c.132C>T	c.(130-132)ctC>ctT	p.L44L		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GAAACATTCTCATTATGGTCA	0.398000													117	94					0	0	0.000781405	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369483	86369483	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:86369483G>A	ENST00000400286.2	-	2	1759	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	387						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTTCCAAAGTGAAATATTCCA	0.363000													38	18					0	0	0.000814825	0	0
SERPINA3	12	broad.mit.edu	37	14	95081243	95081243	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:95081243G>A	ENST00000553947.1	+	5	1428	c.540G>A	c.(538-540)gaG>gaA	p.E180E	SERPINA3_ENST00000393078.3_Silent_p.E155E|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393080.4_Silent_p.E155E|SERPINA3_ENST00000467132.1_Silent_p.E155E			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	155					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GGTTCACGGAGGATGCCAAGA	0.522000													36	31					0	0	0.000491102	0	0
LRRC66	339977	broad.mit.edu	37	4	52883365	52883365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:52883365G>A	ENST00000343457.3	-	1	421	c.415C>T	c.(415-417)Cac>Tac	p.H139Y		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	139						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTGCTTCTGTGGCGTTTCACC	0.428000													66	40					0	0	0.000781405	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175862	143175862	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:143175862G>A	ENST00000408916.1	+	1	897	c.897G>A	c.(895-897)ttG>ttA	p.L299L	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	299					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					AGCTCCTGTTGTTGGCAAGGG	0.537000													6	35					0	0	0.000157383	0	0
NOS1	4842	broad.mit.edu	37	12	117681136	117681136	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:117681136G>A	ENST00000317775.6	-	19	3613	c.2928C>T	c.(2926-2928)ctC>ctT	p.L976L	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.L1010L	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	976					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCACAAAGGTGAGGCGGAACT	0.517000													19	55					0	0	0.00229938	0	0
HAMP	57817	broad.mit.edu	37	19	35775857	35775857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:35775857G>A	ENST00000598398.1	+	4	463	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	HAMP_ENST00000222304.3_Missense_Mutation_p.R56Q	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	56					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTCCAGAGGCGAAGGAGGCGA	0.582000													37	44					0	0	0.00222228	0	0
DAB2	1601	broad.mit.edu	37	5	39376178	39376178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:39376178G>A	ENST00000545653.1	-	12	2635	c.2105C>T	c.(2104-2106)tCc>tTc	p.S702F	DAB2_ENST00000509337.1_Missense_Mutation_p.S702F|DAB2_ENST00000320816.6_Missense_Mutation_p.S723F|DAB2_ENST00000339788.6_Missense_Mutation_p.S505F	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	723	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AACTGGCAGGGAAACTTGTCT	0.433000													28	3					0	0	0.00209593	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962331	10962331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:10962331G>A	ENST00000240691.2	-	1	436	c.344C>T	c.(343-345)tCg>tTg	p.S115L		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	115					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAATGGGTGCGATATATTGGC	0.378000													19	21					0	0	0.00121646	0	0
CSF1R	1436	broad.mit.edu	37	5	149459714	149459714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:149459714G>A	ENST00000286301.3	-	4	784	c.493C>T	c.(493-495)Cac>Tac	p.H165Y	CSF1R_ENST00000543093.1_Missense_Mutation_p.H165Y	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	165	Ig-like C2-type 2.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TTGGCCCTGTGGATGGTGAAG	0.607000													15	32					0	0	0.000308642	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53639377	53639377	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:53639377A>G	ENST00000564374.1	-	25	3806	c.3713T>C	c.(3712-3714)gTt>gCt	p.V1238A	RPGRIP1L_ENST00000379925.3_Intron|RPGRIP1L_ENST00000563746.1_Intron|RPGRIP1L_ENST00000262135.4_Intron			Q68CZ1	FTM_HUMAN	RPGRIP1-like	0					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AAACTGAGCAACACTTTCACC	0.468000													58	143					0	0	0.000781405	0	0
NKX2-8	26257	broad.mit.edu	37	14	37051552	37051552	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:37051552G>A	ENST00000258829.5	-	1	260	c.43C>T	c.(43-45)Cta>Tta	p.L15L		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	15					liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		GGTAAATCTAGAAGGCTGCGC	0.726000													24	14					0	0	0.000586117	0	0
ATP12A	479	broad.mit.edu	37	13	25284612	25284612	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:25284612G>A	ENST00000218548.6	+	20	3129	c.2796G>A	c.(2794-2796)agG>agA	p.R932R	ATP12A_ENST00000381946.3_Silent_p.R926R	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	926					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGTACCAGAGGGAATACCTAG	0.453000													7	50					0	0	0.000157383	0	0
CYFIP1	23191	broad.mit.edu	37	15	22999452	22999452	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:22999452C>T	ENST00000313077.7	+	29	3449	c.3324C>T	c.(3322-3324)atC>atT	p.I1108I	CYFIP1_ENST00000560848.1_Silent_p.I1108I|CYFIP1_ENST00000435939.2_Silent_p.I677I	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	1108					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATGACCCCATCTGGCGCGGGC	0.587000													22	34					0	0	0.000375601	0	0
BIRC7	79444	broad.mit.edu	37	20	61870912	61870912	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:61870912C>T	ENST00000217169.3	+	6	1066	c.852C>T	c.(850-852)atC>atT	p.I284I	BIRC7_ENST00000342412.6_Silent_p.I266I|BIRC7_ENST00000395306.1_Silent_p.I179I	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	284					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					TGTGCCCCATCTGCAGAGCCC	0.716000													20	21					0	0	0.00188189	0	0
NDUFB3	4709	broad.mit.edu	37	2	201950311	201950311	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:201950311C>T	ENST00000237889.4	+	3	593	c.270C>T	c.(268-270)tcC>tcT	p.S90S	NDUFB3_ENST00000454214.1_Silent_p.S90S|NDUFB3_ENST00000433898.1_Silent_p.S90S	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	90					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)|urinary_tract(1)	3					NADH(DB00157)	ACCTGGAGTCCCTGAATAAAG	0.373000													33	28					0	0	0.00222228	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17143761	17143761	+	Silent	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:17143761A>G	ENST00000265970.7	-	14	2630	c.2631T>C	c.(2629-2631)gaT>gaC	p.D877D	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.D497D	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	877					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TATGAAGAATATCAAGAAGTT	0.308000													28	64					0	0	0.001512	0	0
CACNA1S	779	broad.mit.edu	37	1	201060870	201060870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:201060870G>A	ENST00000362061.3	-	5	818	c.592C>T	c.(592-594)Cac>Tac	p.H198Y	CACNA1S_ENST00000367338.3_Missense_Mutation_p.H198Y	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	198					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGGGCGATGTGAAAGAGGGGG	0.552000													11	20					0	0	0.00136819	0	0
HPSE	10855	broad.mit.edu	37	4	84240600	84240600	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:84240600G>A	ENST00000405413.2	-	4	532	c.396C>T	c.(394-396)atC>atT	p.I132I	HPSE_ENST00000513463.1_Silent_p.I132I|HPSE_ENST00000512196.1_Silent_p.I132I|HPSE_ENST00000311412.5_Silent_p.I132I	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	132					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	CATCAGGAGGGATGGATCCAT	0.423000													18	35					0	0	0.00074312	0	0
ASPH	444	broad.mit.edu	37	8	62489366	62489366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:62489366G>A	ENST00000541428.1	-	16	1187	c.1027C>T	c.(1027-1029)Cct>Tct	p.P343S	ASPH_ENST00000379454.4_Missense_Mutation_p.P372S	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	372					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GGACTCTGAGGGTATTTGCGT	0.343000													45	62					0	0	0.000781405	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5190095	5190095	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:5190095G>A	ENST00000274181.7	+	7	1197	c.1059G>A	c.(1057-1059)gtG>gtA	p.V353V	ADAMTS16_ENST00000511368.1_Silent_p.V353V	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	353	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGGACTGGTGATAAGTCACC	0.473000													45	60					0	0	0.000781405	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42162942	42162942	+	Silent	SNP	C	C	T	rs143612275		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:42162942C>T	ENST00000444063.1	+	12	1480	c.1348C>T	c.(1348-1350)Ctg>Ttg	p.L450L	L3MBTL1_ENST00000427442.2_Silent_p.L518L|L3MBTL1_ENST00000373135.3_Silent_p.L450L|L3MBTL1_ENST00000418998.1_Silent_p.L518L|L3MBTL1_ENST00000373134.1_Silent_p.L450L			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	450					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TCACAGCTTCCTGGTCAATAT	0.622000													26	69					0	0	0.00106085	0	0
OR2L3	391192	broad.mit.edu	37	1	248224344	248224344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:248224344C>T	ENST00000359959.3	+	1	361	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGCCTATGATCGTTACATTGC	0.443000													95	59					0	0	0.000781405	0	0
MGAT5B	146664	broad.mit.edu	37	17	74922790	74922790	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:74922790C>T	ENST00000569840.2	+	10	1843	c.1269C>T	c.(1267-1269)ccC>ccT	p.P423P	MGAT5B_ENST00000301618.4_Silent_p.P423P|MGAT5B_ENST00000428789.2_Silent_p.P434P	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	423						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCTCAACCCCAAGCAGTTCA	0.627000													66	49					0	0	0.000781405	0	0
TLR10	81793	broad.mit.edu	37	4	38776112	38776112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:38776112C>T	ENST00000308973.4	-	4	1705	c.1100G>A	c.(1099-1101)aGa>aAa	p.R367K	TLR10_ENST00000361424.2_Missense_Mutation_p.R367K|TLR10_ENST00000506111.1_Missense_Mutation_p.R367K|TLR10_ENST00000508334.1_Missense_Mutation_p.R367K	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	367					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TTGGATAGTTCTTTTAAACAA	0.348000													29	51					0	0	0.00127121	0	0
PIR	8544	broad.mit.edu	37	X	15477785	15477785	+	Silent	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:15477785A>G	ENST00000380421.3	-	4	728	c.268T>C	c.(268-270)Ttg>Ctg	p.L90L	PIR_ENST00000380420.5_Silent_p.L90L|PIR_ENST00000476381.1_5'UTR	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	90					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					CATACCTGCAAATCTCCTGGG	0.483000													118	17					0	0	0.000781405	0	0
IL21R	50615	broad.mit.edu	37	16	27460449	27460449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:27460449G>A	ENST00000337929.3	+	9	1935	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N	IL21R_ENST00000395755.1_Missense_Mutation_p.D488N|IL21R_ENST00000564089.1_Missense_Mutation_p.D488N|IL21R_ENST00000395754.4_Missense_Mutation_p.D488N|IL21R-AS1_ENST00000563191.1_RNA	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	488					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCTGGATATGGACACGTTTGA	0.672000			T	BCL6	NHL								14	38					0	0	0.000308642	0	0
OR5M1	390168	broad.mit.edu	37	11	56380885	56380885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:56380885G>A	ENST00000526538.1	-	1	93	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TAGATCGCAAGGAATACCCCA	0.483000													24	62					0	0	0.000720815	0	0
SPANXC	64663	broad.mit.edu	37	X	140336564	140336564	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:140336564C>T	ENST00000358993.2	-	1	65	c.27G>A	c.(25-27)ggG>ggA	p.G9G		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	9						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TCCTCTTCACCCCGCCGGCAC	0.493000													54	10					0	0	0.000781405	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				69	28					0	0	0.000781405	0	0
USH1C	10083	broad.mit.edu	37	11	17523497	17523497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:17523497G>A	ENST00000005226.7	-	21	2214	c.2215C>T	c.(2215-2217)Ccc>Tcc	p.P739S	USH1C_ENST00000527020.1_Missense_Mutation_p.P420S|USH1C_ENST00000318024.4_Missense_Mutation_p.P439S|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_Missense_Mutation_p.P408S	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	439					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ATAGAGTAGGGGTCAAAGCCT	0.542000													7	24					0	0	0.000157383	0	0
DOPEY2	9980	broad.mit.edu	37	21	37660349	37660349	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:37660349C>T	ENST00000399151.3	+	33	6283	c.6198C>T	c.(6196-6198)tcC>tcT	p.S2066S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2066					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GACAGACATCCATAGTTGCTG	0.378000													57	74					0	0	0.000781405	0	0
TBX18	9096	broad.mit.edu	37	6	85470044	85470044	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:85470044G>A	ENST00000369663.5	-	3	865	c.528C>T	c.(526-528)atC>atT	p.I176I	TBX18_ENST00000606784.1_Silent_p.I18I|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	176					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CTAATCCAGAGATCTTCACTC	0.393000													19	5					0	0	0.00188189	0	0
MUC16	94025	broad.mit.edu	37	19	9086177	9086177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9086177C>T	ENST00000397910.4	-	1	5841	c.5638G>A	c.(5638-5640)Gat>Aat	p.D1880N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1880	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAGGTATCAGAGCCGTTT	0.507000													22	11					0	0	0.000375601	0	0
MBNL1	4154	broad.mit.edu	37	3	152150596	152150596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:152150596C>T	ENST00000282486.6	+	4	2278	c.436C>T	c.(436-438)Ccg>Tcg	p.P146S	MBNL1_ENST00000463374.1_Missense_Mutation_p.P146S|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000493459.1_Missense_Mutation_p.P89S|MBNL1_ENST00000357472.3_Missense_Mutation_p.P146S|MBNL1_ENST00000324210.5_Missense_Mutation_p.P146S|MBNL1_ENST00000324196.5_Missense_Mutation_p.P146S|MBNL1_ENST00000498502.1_Missense_Mutation_p.P146S|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000485509.1_Missense_Mutation_p.P146S|MBNL1_ENST00000492948.1_Missense_Mutation_p.P146S|MBNL1_ENST00000355460.2_Missense_Mutation_p.P146S			Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	146					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AAGCCTGGTCCCGGCAGAGAT	0.517000													111	132					0	0	0.000781405	0	0
KLKB1	3818	broad.mit.edu	37	4	187172455	187172455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:187172455C>T	ENST00000264690.6	+	8	1028	c.841C>T	c.(841-843)Ctt>Ttt	p.L281F	KLKB1_ENST00000513864.1_Missense_Mutation_p.L281F	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	281	Apple 3.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TGGATATAGCCTTTTAACCTG	0.299000													35	15					0	0	0.00222228	0	0
NTSR2	23620	broad.mit.edu	37	2	11802346	11802346	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:11802346G>A	ENST00000306928.5	-	2	679	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	215					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	AGGGGAGCACGAAGGACACCA	0.642000													79	51					0	0	0.000781405	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12823137	12823137	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:12823137C>T	ENST00000379672.5	+	6	753	c.453C>T	c.(451-453)tcC>tcT	p.S151S	ARHGAP44_ENST00000262444.9_Silent_p.S151S|ARHGAP44_ENST00000340825.3_Silent_p.S151S	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	151	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						ACATGGATTCCTCACGAACCA	0.388000													26	0					0	0	0.00106085	0	0
CHST9	83539	broad.mit.edu	37	18	24496436	24496436	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:24496436C>T	ENST00000284224.8	-	6	1396	c.1119G>A	c.(1117-1119)ttG>ttA	p.L373L	AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000581714.1_Silent_p.L373L	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	373					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CATCTTCTTCCAAAGTCTCAA	0.423000													41	63					0	0	0.00195071	0	0
NUP214	8021	broad.mit.edu	37	9	134038512	134038512	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:134038512C>T	ENST00000359428.5	+	19	2819	c.2675C>T	c.(2674-2676)tCc>tTc	p.S892F	RP11-544A12.4_ENST00000589128.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000586662.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.S882F|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.S893F|RP11-544A12.4_ENST00000417798.2_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	892	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AAACAGACTTCCCTGTGGAGC	0.493000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								56	8					0	0	0.000781405	0	0
ELOVL7	79993	broad.mit.edu	37	5	60053414	60053414	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:60053414G>A	ENST00000505959.1	-	10	1045	c.519C>T	c.(517-519)tcC>tcT	p.S173S	ELOVL7_ENST00000425382.1_Silent_p.S186S|ELOVL7_ENST00000438340.1_Silent_p.S186S|ELOVL7_ENST00000508821.1_Silent_p.S186S			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	186					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GTCCATAGTAGGAATACATGA	0.373000													24	31					0	0	0.00047179	0	0
ARMC4	55130	broad.mit.edu	37	10	28272861	28272861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:28272861G>A	ENST00000305242.5	-	6	822	c.730C>T	c.(730-732)Cgt>Tgt	p.R244C	ARMC4_ENST00000239715.3_Missense_Mutation_p.R101C	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	244							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATTTCCCCACGAATTTGTCTC	0.403000													27	19					0	0	0.000878237	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31484848	31484848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:31484848C>T	ENST00000394863.3	+	2	230	c.100C>T	c.(100-102)Cct>Tct	p.P34S	TGFB1I1_ENST00000567607.1_Missense_Mutation_p.P17S|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.P17S|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.P17S	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	34	Interaction with PTK2B.|Transcription activation (By similarity).				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GCCTCTCACCCCTCCCCCATC	0.647000													22	34					0	0	0.00229938	0	0
ADAM33	80332	broad.mit.edu	37	20	3655204	3655204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:3655204C>T	ENST00000356518.2	-	6	788	c.547G>A	c.(547-549)Gat>Aat	p.D183N	ADAM33_ENST00000350009.2_Missense_Mutation_p.D183N|ADAM33_ENST00000379861.4_Missense_Mutation_p.D183N	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	183					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TTCCCAGGATCCCTGTGGCCA	0.607000													70	34					0	0	0.000781405	0	0
SLC35F4	341880	broad.mit.edu	37	14	58060803	58060803	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:58060803G>T	ENST00000556826.1	-	2	379	c.143C>A	c.(142-144)gCc>gAc	p.A48D	SLC35F4_ENST00000557430.1_5'UTR|SLC35F4_ENST00000339762.6_Missense_Mutation_p.A84D|SLC35F4_ENST00000554729.1_5'UTR	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGGCAGTTGGCTCCTGGTTT	0.463000													13	10					7.03913e-09	3.37137e-08	0.00136819	1	0
BTBD9	114781	broad.mit.edu	37	6	38547997	38547997	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:38547997C>G	ENST00000481247.1	-	5	1182	c.1031G>C	c.(1030-1032)aGc>aCc	p.S344T	BTBD9_ENST00000314100.6_Missense_Mutation_p.S276T|BTBD9_ENST00000403056.1_Missense_Mutation_p.S344T|BTBD9_ENST00000419706.2_Missense_Mutation_p.S285T|BTBD9_ENST00000408958.1_Missense_Mutation_p.S276T	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	344					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CACTTACCGGCTATCTCGGTC	0.413000													16	26					0	0	0.000422831	0	0
KIF18B	146909	broad.mit.edu	37	17	43003827	43003827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:43003827G>A	ENST00000587309.1	-	15	2466	c.2443C>T	c.(2443-2445)Ccc>Tcc	p.P815S	KIF18B_ENST00000438933.2_Missense_Mutation_p.P815S|KIF18B_ENST00000590129.1_Missense_Mutation_p.P824S|KIF18B_ENST00000339151.4_Missense_Mutation_p.P806S|KIF18B_ENST00000593135.1_Missense_Mutation_p.P803S	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GTGCTGCTGGGGAGGCGGGCG	0.622000													9	3					0	0	0.00136819	0	0
EHD1	10938	broad.mit.edu	37	11	64622318	64622318	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:64622318C>T	ENST00000320631.3	-	5	1346	c.1092G>A	c.(1090-1092)caG>caA	p.Q364Q	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Silent_p.Q364Q	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	364					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AGTCCTGGGTCTGCAGGAGTT	0.627000													60	155					0	0	0.000781405	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140746171	140746171	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140746171C>T	ENST00000518069.1	+	1	2274	c.2274C>T	c.(2272-2274)tcC>tcT	p.S758S	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGAGGTCTCCCTCACCGCGG	0.597000													65	46					0	0	0.000781405	0	0
PANX1	24145	broad.mit.edu	37	11	93912978	93912978	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:93912978C>T	ENST00000227638.3	+	4	1141	c.756C>T	c.(754-756)atC>atT	p.I252I	PANX1_ENST00000436171.2_Silent_p.I252I	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	252					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATCAGGGATCCTGAGAAACG	0.478000													55	4					0	0	0.000781405	0	0
TM7SF3	51768	broad.mit.edu	37	12	27127114	27127114	+	Silent	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:27127114A>G	ENST00000343028.4	-	12	1722	c.1497T>C	c.(1495-1497)atT>atC	p.I499I	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	499						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TCTGTAACGTAATTCCACTTA	0.428000													24	24					0	0	0.00047179	0	0
NLRP14	338323	broad.mit.edu	37	11	7063772	7063772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:7063772C>T	ENST00000299481.4	+	4	861	c.515C>T	c.(514-516)aCc>aTc	p.T172I		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	172					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GATGTCAAAACCGGTGCACAG	0.478000													23	24					0	0	0.000375601	0	0
ZNF510	22869	broad.mit.edu	37	9	99521932	99521932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:99521932G>A	ENST00000375231.1	-	6	1830	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C	ZNF510_ENST00000223428.4_Missense_Mutation_p.R394C			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CTTCTTCGGCGAACTCTGTGA	0.398000													91	17					0	0	0.000781405	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			49	8					0	0	0.000781405	0	0
C5orf45	51149	broad.mit.edu	37	5	179269064	179269064	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:179269064C>T	ENST00000518219.1	-	5	303	c.291_splice	c.e5-1	p.E98_splice	C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000520698.1_Splice_Site_p.E43_splice|C5orf45_ENST00000403396.2_Splice_Site_p.E140_splice|C5orf45_ENST00000292586.6_Splice_Site_p.E98_splice|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000518235.1_Splice_Site_p.E98_splice|C5orf45_ENST00000523084.1_5'UTR|C5orf45_ENST00000376931.2_Splice_Site_p.E43_splice			Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	98										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						TGCGATTTTTCCTGCCAGATT	0.488000													10	239					0	0	0.000673444	0	0
LPHN2	23266	broad.mit.edu	37	1	82409080	82409080	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:82409080C>T	ENST00000370728.1	+	8	1470	c.825C>T	c.(823-825)gtC>gtT	p.V275V	LPHN2_ENST00000319517.6_Silent_p.V275V|LPHN2_ENST00000370721.1_Silent_p.V279V|LPHN2_ENST00000370725.1_Silent_p.V275V|LPHN2_ENST00000370717.2_Silent_p.V275V|LPHN2_ENST00000335786.5_Silent_p.V275V|LPHN2_ENST00000359929.3_Silent_p.V275V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Silent_p.V275V|LPHN2_ENST00000271029.4_Silent_p.V275V|LPHN2_ENST00000370715.1_Silent_p.V275V|LPHN2_ENST00000370727.1_Silent_p.V275V|LPHN2_ENST00000370730.1_Silent_p.V275V|LPHN2_ENST00000370713.1_Silent_p.V275V|LPHN2_ENST00000370723.1_Silent_p.V275V			O95490	LPHN2_HUMAN	latrophilin 2	275	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GTTTATGGGTCATTTACGCCA	0.418000													56	26					0	0	0.000781405	0	0
CAMK2B	816	broad.mit.edu	37	7	44283092	44283092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:44283092C>T	ENST00000395749.2	-	7	525	c.449G>A	c.(448-450)gGg>gAg	p.G150E	CAMK2B_ENST00000395747.2_Missense_Mutation_p.G150E|CAMK2B_ENST00000258682.6_Missense_Mutation_p.G150E|CAMK2B_ENST00000358707.3_Missense_Mutation_p.G150E|CAMK2B_ENST00000353625.4_Missense_Mutation_p.G150E|CAMK2B_ENST00000346990.4_Missense_Mutation_p.G150E|CAMK2B_ENST00000350811.3_Missense_Mutation_p.G150E|CAMK2B_ENST00000347193.4_Missense_Mutation_p.G150E|CAMK2B_ENST00000502837.2_Missense_Mutation_p.G21E|CAMK2B_ENST00000440254.2_Missense_Mutation_p.G150E|CAMK2B_ENST00000457475.1_Missense_Mutation_p.G150E	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	150	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CACTGCAGCCCCTTTGCACTT	0.607000													25	56					0	0	0.000720815	0	0
DNAH5	1767	broad.mit.edu	37	5	13931332	13931332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:13931332C>T	ENST00000265104.4	-	2	183	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	27	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)					CGCTTGGCTTCCTTCTCTCCC	0.393000									Kartagener syndrome				72	7					0	0	0.000781405	0	0
CEP120	153241	broad.mit.edu	37	5	122758678	122758678	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:122758678G>A	ENST00000306467.5	-	1	319	c.15C>T	c.(13-15)tcC>tcT	p.S5S	CEP120_ENST00000306481.6_Intron|CEP120_ENST00000515110.1_Silent_p.S5S|CEP120_ENST00000395431.2_Silent_p.S5S|CEP120_ENST00000328236.5_Silent_p.S5S			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	5						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GCAATTGGTCGGATTTGGAGA	0.607000													64	45					0	0	0.000781405	0	0
OR10H5	284433	broad.mit.edu	37	19	15905071	15905071	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:15905071C>T	ENST00000308940.8	+	1	311	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TCACCGAGATCCTCTACACCG	0.622000													19	24					0	0	0.000958276	0	0
NT5C1A	84618	broad.mit.edu	37	1	40131815	40131815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:40131815C>T	ENST00000235628.1	-	2	228	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	77					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACGTACTCCTCCACGCCCTGC	0.587000													16	65					0	0	0.00152264	0	0
ATP8B1	5205	broad.mit.edu	37	18	55368546	55368546	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:55368546C>T	ENST00000536015.1	-	5	513		c.e5-1		RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000589147.1_Splice_Site|ATP8B1_ENST00000283684.4_Splice_Site|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1						ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GAGGAACTGCCTAAAAGAATA	0.463000													32	31					0	0	0.00058488	0	0
KALRN	8997	broad.mit.edu	37	3	124416492	124416492	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:124416492C>T	ENST00000360013.3	+	55	7879	c.7752C>T	c.(7750-7752)tcC>tcT	p.S2584S	KALRN_ENST00000291478.4_Silent_p.S887S|KALRN_ENST00000428018.2_Silent_p.S855S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2583	Fibronectin type-III.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCTGCACCTCCGTGATTCTCC	0.547000													7	12					0	0	0.000442599	0	0
NTF4	4909	broad.mit.edu	37	19	49565005	49565005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:49565005C>T	ENST00000301411.3	-	2	390	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	NTF4_ENST00000593537.1_Missense_Mutation_p.E84K|NTF4_ENST00000451356.2_Intron	NM_006179.4	NP_006170.1	P34130	NTF4_HUMAN	neurotrophin 4	84			E -> K (in a patient with primary open- angle glaucoma; uncertain pathological significance).		adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GGTGCAGTTTCGCTCACCCCA	0.701000													4	6					0	0	0.00116845	0	0
KRTAP19-2	337969	broad.mit.edu	37	21	31859583	31859583	+	Missense_Mutation	SNP	C	C	T	rs137856992	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:31859583C>T	ENST00000334055.3	-	1	172	c.85G>A	c.(85-87)Ggc>Agc	p.G29S		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	29						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CCTCTGTGGCCACAACCATAT	0.532000													80	122					0	0	0.000781405	0	0
CHD7	55636	broad.mit.edu	37	8	61655051	61655051	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:61655051C>T	ENST00000423902.2	+	2	1539	c.1060C>T	c.(1060-1062)Cca>Tca	p.P354S	CHD7_ENST00000524602.1_Missense_Mutation_p.P354S|CHD7_ENST00000525508.1_Missense_Mutation_p.P354S	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	354					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGTAGGATTCCCATCAAACAG	0.438000													39	27					0	0	0.00128727	0	0
SLC25A41	284427	broad.mit.edu	37	19	6433579	6433579	+	Nonsense_Mutation	SNP	C	C	T	rs150906124	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:6433579C>T	ENST00000321510.6	-	1	194	c.126G>A	c.(124-126)tgG>tgA	p.W42*		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	42	Pro-rich.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						AGCCAGGGTTCCAggatgggg	0.547000													19	38					0	0	0.00074312	0	0
BNIP2	663	broad.mit.edu	37	15	59964889	59964889	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:59964889G>A	ENST00000267859.3	-	6	978	c.885C>T	c.(883-885)ttC>ttT	p.F295F	BNIP2_ENST00000607373.1_Silent_p.F174F|BNIP2_ENST00000415213.2_Silent_p.F236F			Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	174	CRAL-TRIO.				anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						TTTCAGGCATGAAACAGACAG	0.343000													52	75					0	0	0.000781405	0	0
C5orf42	65250	broad.mit.edu	37	5	37183667	37183667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:37183667C>T	ENST00000274258.7	-	26	4846	c.1259G>A	c.(1258-1260)gGt>gAt	p.G420D	C5orf42_ENST00000425232.2_Missense_Mutation_p.G1539D|C5orf42_ENST00000508244.1_Missense_Mutation_p.G1539D			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1539										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCCCAAACACCTATTACAGG	0.323000													29	4					0	0	0.00106085	0	0
TBX20	57057	broad.mit.edu	37	7	35288414	35288414	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:35288414C>T	ENST00000408931.3	-	3	946	c.420G>A	c.(418-420)gtG>gtA	p.V140V		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	140						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CCTCAGGATCCACCCCCGAAA	0.547000													22	34					0	0	0.00047179	0	0
EFTUD1	79631	broad.mit.edu	37	15	82444611	82444611	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:82444611G>A	ENST00000268206.7	-	18	2352	c.2184C>T	c.(2182-2184)atC>atT	p.I728I	EFTUD1_ENST00000359445.3_Silent_p.I677I	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	728					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTCCTTCAGGGATTTTGCTTT	0.433000													54	114					0	0	0.000781405	0	0
IL6ST	3572	broad.mit.edu	37	5	55237154	55237154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:55237154G>A	ENST00000381298.2	-	17	2825	c.2513C>T	c.(2512-2514)tCa>tTa	p.S838L	IL6ST_ENST00000381294.3_Missense_Mutation_p.S777L|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000502326.3_Missense_Mutation_p.S838L|IL6ST_ENST00000336909.5_Missense_Mutation_p.S838L|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381287.4_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	838					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATTGACTGATGAAACTTGCTT	0.383000			O		hepatocellular ca								67	90					0	0	0.000781405	0	0
ARID1A	8289	broad.mit.edu	37	1	27100350	27100350	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:27100350C>T	ENST00000324856.7	+	17	4433	c.4062C>T	c.(4060-4062)ttC>ttT	p.F1354F	ARID1A_ENST00000457599.2_Silent_p.F1354F|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Silent_p.F971F	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1354	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGCCCCTTCCCCAGCCAGC	0.522000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								156	91					0	0	0.000781405	0	0
IL18R1	8809	broad.mit.edu	37	2	103001405	103001405	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:103001405G>A	ENST00000409599.1	+	8	1112	c.756G>A	c.(754-756)ggG>ggA	p.G252G	IL18R1_ENST00000233957.1_Silent_p.G252G			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	252	Ig-like C2-type 3.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGATGTTCGGGGAAGAAAATG	0.328000													64	73					0	0	0.000781405	0	0
CD163L1	283316	broad.mit.edu	37	12	7528454	7528454	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:7528454G>C	ENST00000313599.3	-	10	2585	c.2528C>G	c.(2527-2529)tCt>tGt	p.S843C	CD163L1_ENST00000396630.1_Missense_Mutation_p.S843C|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.S853C			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	843	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACAGAAAGAGATATGGCATC	0.458000													44	27					0	0	0.000781405	0	0
MAS1L	116511	broad.mit.edu	37	6	29455367	29455367	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:29455367T>A	ENST00000377127.3	-	1	371	c.313A>T	c.(313-315)Acg>Tcg	p.T105S		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	105						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TAGGGATTCGTGGCCCCACAG	0.542000													25	27					0	0	0.00047179	0	0
TBPL2	387332	broad.mit.edu	37	14	55902610	55902610	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:55902610C>T	ENST00000247219.5	-	3	721	c.651G>A	c.(649-651)ctG>ctA	p.L217L		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	217					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CTATTTTCTTCAGATCCAACT	0.299000													22	54					0	0	0.00106085	0	0
HRNR	388697	broad.mit.edu	37	1	152191013	152191013	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:152191013G>A	ENST00000368801.2	-	3	3167	c.3092C>T	c.(3091-3093)tCa>tTa	p.S1031L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1031					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCACCCTGAGCCAGACCT	0.597000													114	87					0	0	0.000781405	0	0
CARD9	64170	broad.mit.edu	37	9	139262131	139262131	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:139262131C>T	ENST00000371732.5	-	8	1392	c.1227G>A	c.(1225-1227)gtG>gtA	p.V409V	CARD9_ENST00000371734.3_Silent_p.V409V	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	409					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCCTGCCCTCCACGGCCAGTA	0.716000													12	1					0	0	0.00136819	0	0
PRSS58	136541	broad.mit.edu	37	7	141952364	141952364	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141952364G>A	ENST00000552471.1	-	4	823	c.504C>T	c.(502-504)gcC>gcT	p.A168A	PRSS58_ENST00000547058.2_Silent_p.A168A			Q8IYP2	PRS58_HUMAN	protease, serine, 58	168	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGGTTTTATAGGCATCGCGAC	0.428000													31	145					0	0	0.00209593	0	0
KRT4	3851	broad.mit.edu	37	12	53203182	53203182	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:53203182C>T	ENST00000293774.4	-	4	1311	c.1041G>A	c.(1039-1041)aaG>aaA	p.K347K	KRT4_ENST00000458244.2_Silent_p.K253K|KRT4_ENST00000551956.1_Silent_p.K273K			B4DRS2	B4DRS2_HUMAN	keratin 4	273						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CATAGAGGACCTTCAGGAAGT	0.532000													24	66					0	0	0.00127121	0	0
PRSS36	146547	broad.mit.edu	37	16	31157262	31157262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:31157262G>A	ENST00000268281.4	-	6	626	c.568C>T	c.(568-570)Ccc>Tcc	p.P190S	PRSS36_ENST00000418068.2_Missense_Mutation_p.P190S|PRSS36_ENST00000569305.1_Missense_Mutation_p.P190S	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	190	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						AGCACCCAGGGGAGAGGCAGA	0.597000													14	8					0	0	0.000566183	0	0
SKIV2L	6499	broad.mit.edu	37	6	31928281	31928281	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:31928281C>A	ENST00000375394.2	+	5	540	c.427C>A	c.(427-429)Cag>Aag	p.Q143K	SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_Intron	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	143						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCCAGCCTCCCAGTCCTTATG	0.537000													11	571					1.15088e-07	5.5052e-07	0.000422831	1	0
CACNA2D4	93589	broad.mit.edu	37	12	2016677	2016677	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:2016677T>C	ENST00000382722.5	-	6	1072	c.710A>G	c.(709-711)aAc>aGc	p.N237S	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.N237S|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.N173S|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.N173S|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.N237S|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.N237S	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	237						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCTCTGGAAGTTCTCCACGAA	0.453000													5	24					0	0	0.00198382	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267682	71267682	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:71267682G>A	ENST00000554752.2	-	2	521	c.522C>T	c.(520-522)cgC>cgT	p.R174R	MAP3K9_ENST00000381250.4_Silent_p.R174R|MAP3K9_ENST00000555993.2_Silent_p.R174R			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	174	Protein kinase.				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)		CAGGGTCGTGGCGAGCTGCTT	0.537000													27	68					0	0	0.00106085	0	0
NR4A1	3164	broad.mit.edu	37	12	52448684	52448684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:52448684C>T	ENST00000545748.1	+	3	1729	c.734C>T	c.(733-735)tCc>tTc	p.S245F	NR4A1_ENST00000243050.1_Missense_Mutation_p.S191F|NR4A1_ENST00000548232.1_Missense_Mutation_p.S191F|NR4A1_ENST00000550082.1_Missense_Mutation_p.S204F|NR4A1_ENST00000360284.3_Missense_Mutation_p.S204F|NR4A1_ENST00000394824.2_Missense_Mutation_p.S191F|NR4A1_ENST00000394825.1_Missense_Mutation_p.S191F			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	191					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GCCTTCTTTTCCTTCAGTCCT	0.657000													41	76					0	0	0.00170553	0	0
DUOXA2	405753	broad.mit.edu	37	15	45410015	45410015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:45410015C>T	ENST00000323030.5	+	6	1156	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	DUOXA1_ENST00000559014.1_Intron|DUOXA1_ENST00000267803.4_Intron|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000430224.2_Intron	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	291					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GGACTGCAGCCAGGAGAGAGG	0.612000											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	67					0	0	0.000781405	0	0
IPO13	9670	broad.mit.edu	37	1	44415498	44415498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:44415498C>T	ENST00000372343.3	+	2	1156	c.494C>T	c.(493-495)gCc>gTc	p.A165V		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	165					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CGCTGCCTAGCCCTGTTAGAG	0.612000													20	10					0	0	0.00152264	0	0
XIRP2	129446	broad.mit.edu	37	2	168107796	168107796	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:168107796G>A	ENST00000409195.1	+	9	9983	c.9894G>A	c.(9892-9894)aaG>aaA	p.K3298K	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.K3076K|XIRP2_ENST00000295237.9_Silent_p.K3298K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3123					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						TCATCCGCAAGGTTGCAGTGC	0.453000													51	77					0	0	0.000781405	0	0
OR7G3	390883	broad.mit.edu	37	19	9237262	9237262	+	Missense_Mutation	SNP	C	C	T	rs144765135		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9237262C>T	ENST00000305444.2	-	1	364	c.365G>A	c.(364-366)cGa>cAa	p.R122Q		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGCCACAAATCGATCATAGGC	0.473000													31	61					0	0	0.000491102	0	0
KIAA2018	205717	broad.mit.edu	37	3	113376574	113376574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:113376574G>A	ENST00000316407.4	-	7	4365	c.3955C>T	c.(3955-3957)Cca>Tca	p.P1319S	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1319S	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1319					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA 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						TCATGGCTTGGCTTTAAGAGT	0.453000													75	83					0	0	0.000781405	0	0
NAPSA	9476	broad.mit.edu	37	19	50863041	50863041	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:50863041G>A	ENST00000253719.2	-	6	955	c.747C>T	c.(745-747)ttC>ttT	p.F249F	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	249					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TGACTGGCACGAAGGTGAGGG	0.647000													21	93					0	0	0.000375601	0	0
SLC22A15	55356	broad.mit.edu	37	1	116609274	116609274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:116609274C>T	ENST00000369503.4	+	11	1629	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	500					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CAGGTGTATTCGTATCGCAGG	0.488000													21	12					0	0	0.000586117	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288190	132288190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:132288190C>T	ENST00000467992.2	+	1	954	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	CCDC74A_ENST00000295171.6_Missense_Mutation_p.P112S|CCDC74A_ENST00000409856.3_Intron			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	112										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GGCCTCTGCTCCCTTGGGCGC	0.642000													18	29					0	0	0.00178596	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39421256	39421256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:39421256C>T	ENST00000216099.7	+	3	799	c.392C>T	c.(391-393)tCt>tTt	p.S131F	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.S131F	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	131					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CTGACCATCTCTGCCGCCCGC	0.562000													44	70					0	0	0.000781405	0	0
SCN10A	6336	broad.mit.edu	37	3	38798333	38798333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:38798333C>T	ENST00000449082.2	-	9	1121	c.1122G>A	c.(1120-1122)atG>atA	p.M374I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	374					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)	CAAAAAAGATCATATAGATTT	0.473000													47	33					0	0	0.000781405	0	0
KDM3B	51780	broad.mit.edu	37	5	137727415	137727415	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:137727415C>T	ENST00000314358.5	+	8	2294	c.2094C>T	c.(2092-2094)tcC>tcT	p.S698S	KDM3B_ENST00000394866.1_Silent_p.S354S|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	698	Ser-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CAACTGACTCCTCCAAGCTAG	0.582000													32	22					0	0	0.00178596	0	0
TNR	7143	broad.mit.edu	37	1	175348708	175348708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:175348708G>A	ENST00000367674.1	-	9	2651	c.1943C>T	c.(1942-1944)aCc>aTc	p.T648I	TNR_ENST00000263525.2_Missense_Mutation_p.T648I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	648	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGCCCTGGTGGTTGGACCAAT	0.532000													17	11					0	0	0.00121646	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262217	39262217	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:39262217A>G	ENST00000391415.1	+	1	634	c.577A>G	c.(577-579)Acc>Gcc	p.T193A		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	193						keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CTATCGCCCAACCTGTGTCAT	0.652000													3	5					0	0	0.000602214	0	0
C17orf47	284083	broad.mit.edu	37	17	56620146	56620146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:56620146G>A	ENST00000321691.3	-	1	1583	c.1402C>T	c.(1402-1404)Cct>Tct	p.P468S	RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	468										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCACAGAAAGGGCTAGAGTCT	0.478000													74	178					0	0	0.000781405	0	0
CARS2	79587	broad.mit.edu	37	13	111329397	111329397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:111329397G>A	ENST00000257347.4	-	7	772	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	237					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	ACCTCCTGGGGTTTGGCCGCC	0.632000													23	37					0	0	0.000375601	0	0
SLC26A3	1811	broad.mit.edu	37	7	107408085	107408085	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:107408085T>G	ENST00000340010.5	-	20	2394	c.2210A>C	c.(2209-2211)aAa>aCa	p.K737T	SLC26A3_ENST00000422236.2_Missense_Mutation_p.K624T	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	737					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTTTCCATCTTTTTCCTGAGA	0.328000													41	13					0	0	0.00148497	0	0
MUC16	94025	broad.mit.edu	37	19	9015627	9015627	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9015627C>T	ENST00000397910.4	-	29	38399	c.38196G>A	c.(38194-38196)caG>caA	p.Q12732Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12734	SEA 5.				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						TAACCAGACTCTGCAGGACTC	0.527000													61	39					0	0	0.000781405	0	0
TDRD7	23424	broad.mit.edu	37	9	100194381	100194381	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:100194381C>T	ENST00000355295.4	+	4	719	c.424C>T	c.(424-426)Ccg>Tcg	p.P142S	TDRD7_ENST00000422139.2_Missense_Mutation_p.P68S	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	142					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TAATCCAGCACCGTTAAGAGA	0.388000													55	10					0	0	0.000781405	0	0
PDZK1IP1	10158	broad.mit.edu	37	1	47650768	47650768	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:47650768C>T	ENST00000294338.2	-	3	300	c.176_splice	c.e3-1	p.E60_splice	PDZK1IP1_ENST00000491793.1_5'UTR|PDZK1IP1_ENST00000371885.1_Splice_Site_p.E60_splice	NM_005764.3	NP_005755.1	Q13113	PDZ1I_HUMAN	PDZK1 interacting protein 1	60						integral to membrane				endometrium(1)|lung(1)|prostate(1)	3						TGTGCAGGCTCCCTGGGGATG	0.592000													14	59					0	0	0.000422831	0	0
LIPI	149998	broad.mit.edu	37	21	15517024	15517024	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:15517024G>A	ENST00000344577.2	-	9	1303	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	LIPI_ENST00000536861.1_Silent_p.F405F	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	405					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTGAGCTCTGGAAATATGTCA	0.313000													50	77					0	0	0.000781405	0	0
SV2C	22987	broad.mit.edu	37	5	75427893	75427893	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:75427893C>T	ENST00000502798.2	+	2	760	c.318C>T	c.(316-318)atC>atT	p.I106I	SV2C_ENST00000322285.7_Silent_p.I106I	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	106					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AGGACAGCATCGTGTCAGTGG	0.552000													22	21					0	0	0.00152264	0	0
THSD7B	80731	broad.mit.edu	37	2	138414689	138414689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:138414689G>A	ENST00000409968.1	+	24	4512	c.4334G>A	c.(4333-4335)cGa>cAa	p.R1445Q	THSD7B_ENST00000543459.1_Missense_Mutation_p.E280K|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1448Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1417Q					thrombospondin, type I, domain containing 7B											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)		AATAACGAACGAACTGTATGG	0.413000													29	33					0	0	0.001512	0	0
XIRP2	129446	broad.mit.edu	37	2	168102710	168102710	+	Missense_Mutation	SNP	C	C	T	rs74627077		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:168102710C>T	ENST00000409195.1	+	9	4897	c.4808C>T	c.(4807-4809)gCt>gTt	p.A1603V	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A1381V|XIRP2_ENST00000295237.9_Missense_Mutation_p.A1603V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1428					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						ATTATCAGGGCTGATCTCAGA	0.363000													24	16					0	0	0.000586117	0	0
ANKRD11	29123	broad.mit.edu	37	16	89345505	89345505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:89345505G>A	ENST00000301030.4	-	9	7905	c.7445C>T	c.(7444-7446)cCg>cTg	p.P2482L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P2482L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2482						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTTGCTGAGCGGCTTGCCGTC	0.657000													5	29					0	0	0.00116845	0	0
ANKK1	255239	broad.mit.edu	37	11	113265676	113265676	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:113265676G>A	ENST00000303941.3	+	3	600	c.506G>A	c.(505-507)tGg>tAg	p.W169*		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	169	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CTGTCCAAGTGGATGGAACAG	0.567000													19	2					0	0	0.00188189	0	0
GALNT9	50614	broad.mit.edu	37	12	132683748	132683748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:132683748G>A	ENST00000328957.8	-	9	1467	c.1468C>T	c.(1468-1470)Ctc>Ttc	p.L490F	GALNT9_ENST00000541995.1_Missense_Mutation_p.L124F|GALNT9_ENST00000535228.1_Missense_Mutation_p.L241F|GALNT9_ENST00000397325.2_Missense_Mutation_p.L124F	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	490	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CAGGGGTAGAGGATCGCCCGG	0.647000													7	37					0	0	0.000673444	0	0
IGLV4-3	28786	broad.mit.edu	37	22	23214005	23214005	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:23214005G>A	ENST00000390318.2	+	0	194																											CCATCGAATGGTATCAACAGA	0.572000													65	87					0	0	0.000781405	0	0
OR2M4	26245	broad.mit.edu	37	1	248402323	248402323	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:248402323C>T	ENST00000306687.1	+	1	93	c.93C>T	c.(91-93)gtC>gtT	p.V31V		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	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)			TTTCTCTGGTCCTGGGCATCT	0.478000													43	35					0	0	0.000589545	0	0
CMYA5	202333	broad.mit.edu	37	5	79027814	79027814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:79027814G>A	ENST00000446378.2	+	2	3257	c.3226G>A	c.(3226-3228)Gaa>Aaa	p.E1076K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1076						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTCTCCGCTTGAAGACTTAAG	0.413000													32	36					0	0	0.00209593	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593811	16593811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:16593811G>A	ENST00000443444.2	+	1	237	c.97G>A	c.(97-99)Ggg>Agg	p.G33R	CCDC144A_ENST00000340621.5_Missense_Mutation_p.G33R|CCDC144A_ENST00000399273.1_Missense_Mutation_p.G33R|CCDC144A_ENST00000456009.1_Missense_Mutation_p.G33R|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.G33R|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000360524.8_Missense_Mutation_p.G33R			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	33																	CGGGAGCCAGGGGGACCAGTG	0.657000													21	3					0	0	0.00152264	0	0
OR2K2	26248	broad.mit.edu	37	9	114089881	114089881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:114089881C>T	ENST00000374428.1	-	1	919	c.920G>A	c.(919-921)gGa>gAa	p.G307E	OR2K2_ENST00000302681.1_Missense_Mutation_p.G278E			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GGTAAGCACTCCGTAAAGCAA	0.378000													36	4					0	0	0.000814825	0	0
BTBD8	284697	broad.mit.edu	37	1	92595247	92595247	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:92595247C>T	ENST00000370382.3	+	5	933	c.666C>T	c.(664-666)gcC>gcT	p.A222A	BTBD8_ENST00000540648.1_Silent_p.A222A|BTBD8_ENST00000342818.3_Silent_p.A222A			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	222	BTB 2.					nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CCTTTAGGGCCATTTTGAGTG	0.358000													50	20					0	0	0.000781405	0	0
CCDC11	220136	broad.mit.edu	37	18	47777253	47777253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:47777253C>T	ENST00000398545.4	-	5	988	c.871G>A	c.(871-873)Gcc>Acc	p.A291T		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	291										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCTTGTAGGGCTTTTTGCAAA	0.418000													120	141					0	0	0.000781405	0	0
CSMD1	64478	broad.mit.edu	37	8	3165994	3165994	+	Silent	SNP	G	G	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:3165994G>T	ENST00000520002.1	-	25	4221	c.3666C>A	c.(3664-3666)ggC>ggA	p.G1222G	CSMD1_ENST00000542608.1_Silent_p.G1221G|CSMD1_ENST00000400186.3_Silent_p.G1222G|CSMD1_ENST00000537824.1_Silent_p.G1221G|CSMD1_ENST00000539096.1_Silent_p.G1221G|CSMD1_ENST00000602557.1_Silent_p.G1222G|CSMD1_ENST00000602723.1_Silent_p.G1222G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1222	Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGTTAGGGATGCCCGGATCCT	0.483000													4	13					1.024e-07	4.90237e-07	0.000602214	1	0
FAM45B	55855	broad.mit.edu	37	X	129629636	129629636	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:129629636G>A	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							AGTTTGGAATGGAAACTGTTA	0.468000													24	4					0	0	0.00106085	0	0
TMEM143	55260	broad.mit.edu	37	19	48845857	48845857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:48845857G>A	ENST00000293261.3	-	6	1221	c.905C>T	c.(904-906)aCc>aTc	p.T302I	TMEM143_ENST00000435956.3_Missense_Mutation_p.T267I|TMEM143_ENST00000436660.2_Missense_Mutation_p.T237I|TMEM143_ENST00000541566.1_Missense_Mutation_p.T192I|TMEM143_ENST00000377431.2_Missense_Mutation_p.T202I	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	302						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CTTGAGGTCGGTTAGCACCAC	0.662000													10	21					0	0	0.00136819	0	0
BIRC8	112401	broad.mit.edu	37	19	53793363	53793363	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:53793363C>T	ENST00000426466.1	-	1	1512	c.265G>A	c.(265-267)Gga>Aga	p.G89R		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	89					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		ACCAGAGCTCCCTCAAGTGAA	0.393000													80	73					0	0	0.000781405	0	0
PTPN13	5783	broad.mit.edu	37	4	87724936	87724936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:87724936G>A	ENST00000436978.1	+	43	7075	c.6595G>A	c.(6595-6597)Ggt>Agt	p.G2199S	PTPN13_ENST00000427191.2_Missense_Mutation_p.G2175S|PTPN13_ENST00000411767.2_Missense_Mutation_p.G2194S|PTPN13_ENST00000511467.1_Missense_Mutation_p.G2199S|PTPN13_ENST00000316707.6_Missense_Mutation_p.G2003S	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2194						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TAAATACACGGGTGCCAACTT	0.448000													34	58					0	0	0.000491102	0	0
CGNL1	84952	broad.mit.edu	37	15	57730875	57730875	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:57730875C>T	ENST00000281282.5	+	2	756	c.678C>T	c.(676-678)gaC>gaT	p.D226D		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	226	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TCATAGAGGACCCCAAAAAGC	0.562000													36	88					0	0	0.000692331	0	0
VOPP1	81552	broad.mit.edu	37	7	55588791	55588791	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:55588791G>A	ENST00000285279.5	-	2	287	c.87C>T	c.(85-87)ttC>ttT	p.F29F	VOPP1_ENST00000471168.1_5'UTR|VOPP1_ENST00000545390.1_Silent_p.F26F|VOPP1_ENST00000427700.1_Silent_p.F27F|VOPP1_ENST00000433959.1_Silent_p.F20F|VOPP1_ENST00000454227.1_5'UTR|VOPP1_ENST00000428097.1_5'UTR|VOPP1_ENST00000428648.1_5'UTR|VOPP1_ENST00000418904.1_Silent_p.F12F	NM_030796.3	NP_110423.3	Q96AW1	VOPP1_HUMAN	vesicular, overexpressed in cancer, prosurvival protein 1	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						AGAGTCCTTCGAAATACCAGC	0.398000													4	4					0	0	0.000602214	0	0
SIMC1	375484	broad.mit.edu	37	5	175716958	175716958	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:175716958C>A	ENST00000443967.1	+	4	781	c.374C>A	c.(373-375)cCa>cAa	p.P125Q	SIMC1_ENST00000429602.2_Missense_Mutation_p.P144Q|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000503595.1_3'UTR					SUMO-interacting motifs containing 1																		GTAGGTCCCCCACCCGCTACA	0.498000													10	47					1.96292e-10	9.41316e-10	0.00152264	1	0
GDF15	9518	broad.mit.edu	37	19	18499352	18499352	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:18499352C>T	ENST00000595973.1	+	3	1085	c.534C>T	c.(532-534)ccC>ccT	p.P178P	GDF15_ENST00000252809.3_Silent_p.P178P			Q99988	GDF15_HUMAN	growth differentiation factor 15	178					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						CCGCACGGCCCCAGCTGGAGT	0.731000											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	11					0	0	0.00116845	0	0
UNC5A	90249	broad.mit.edu	37	5	176306743	176306743	+	Silent	SNP	C	C	T	rs142194384		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:176306743C>T	ENST00000329542.4	+	15	2659	c.2385C>T	c.(2383-2385)tcC>tcT	p.S795S	UNC5A_ENST00000261961.3_Silent_p.S755S	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	795	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTTTGCCTCCAAGCCCAGCC	0.701000													36	35					0	0	0.00148497	0	0
MORC1	27136	broad.mit.edu	37	3	108813765	108813765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:108813765C>T	ENST00000232603.5	-	7	656	c.574G>A	c.(574-576)Gga>Aga	p.G192R	MORC1_ENST00000483760.1_Missense_Mutation_p.G192R	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	192					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CCACATTTTCCATAGATCACA	0.308000													19	20					0	0	0.00229938	0	0
CSMD2	114784	broad.mit.edu	37	1	34174710	34174710	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:34174710G>A	ENST00000373381.4	-	22	3731	c.3555C>T	c.(3553-3555)ctC>ctT	p.L1185L	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.L58L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1145	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCCTTCGGAGAGTTCGAATG	0.433000													74	44					0	0	0.000781405	0	0
DCDC1	341019	broad.mit.edu	37	11	31115625	31115625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:31115625G>A	ENST00000597505.1	-	14	2089	c.2090C>T	c.(2089-2091)cCt>cTt	p.P697L	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ACTGGCTACAGGCCACAGGAT	0.532000													64	51					0	0	0.000781405	0	0
NUP210L	91181	broad.mit.edu	37	1	153973397	153973397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:153973397G>A	ENST00000368559.3	-	37	5392	c.5321C>T	c.(5320-5322)tCc>tTc	p.S1774F	NUP210L_ENST00000271854.3_Intron|NUP210L_ENST00000368553.1_Intron	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1774						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GAGTACACAGGAAATATTGAT	0.453000													123	79					0	0	0.000781405	0	0
FLNB	2317	broad.mit.edu	37	3	58154221	58154221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:58154221C>T	ENST00000295956.4	+	44	7418	c.7253C>T	c.(7252-7254)tCc>tTc	p.S2418F	FLNB_ENST00000419752.2_Missense_Mutation_p.S2238F|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000493452.1_Missense_Mutation_p.S2225F|FLNB_ENST00000429972.2_Missense_Mutation_p.S2407F|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000348383.5_Missense_Mutation_p.S2377F|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000490882.1_Missense_Mutation_p.S2449F|FLNB_ENST00000358537.3_Missense_Mutation_p.S2394F	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2418	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGGACATTATCCGTCACCATC	0.488000													23	1					0	0	0.000878237	0	0
PLCL1	5334	broad.mit.edu	37	2	198948707	198948707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:198948707G>A	ENST00000428675.1	+	2	864	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	PLCL1_ENST00000437704.2_Missense_Mutation_p.A58T	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	156	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCTCGAGAAAGCCAAGCTTGA	0.453000													44	53					0	0	0.00195071	0	0
LIG1	3978	broad.mit.edu	37	19	48620928	48620928	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:48620928G>A	ENST00000263274.7	-	26	2969	c.2550C>T	c.(2548-2550)tcC>tcT	p.S850S	LIG1_ENST00000536218.1_Silent_p.S782S|LIG1_ENST00000427526.2_Silent_p.S819S	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	850					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGGGAGAGAGGGAGAGGTCAG	0.657000								Nucleotide excision repair (NER)					6	16					0	0	0.00116845	0	0
MVB12B	89853	broad.mit.edu	37	9	129143402	129143402	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:129143402C>T	ENST00000361171.3	+	3	345	c.264C>T	c.(262-264)tcC>tcT	p.S88S	MVB12B_ENST00000535766.1_Silent_p.S81S|MVB12B_ENST00000436593.3_Silent_p.S73S|MVB12B_ENST00000545391.1_Silent_p.S88S	NM_033446.2	NP_258257.1			multivesicular body subunit 12B																		TATTTAAATCCAAGGTTACCA	0.423000													16	3					0	0	0.00152264	0	0
OR52A1	23538	broad.mit.edu	37	11	5173450	5173450	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:5173450G>A	ENST00000380367.1	-	2	567	c.150C>T	c.(148-150)atC>atT	p.I50I	OR52A1_ENST00000328942.1_Silent_p.I50I			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	50					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGATTTGATGATGCTCAGAA	0.463000													19	24					0	0	0.00188189	0	0
DCC	1630	broad.mit.edu	37	18	50278697	50278697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:50278697G>A	ENST00000442544.2	+	2	981	c.365G>A	c.(364-366)gGa>gAa	p.G122E	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	122	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.G122E(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCATCTTTAGGAGATTCTGGC	0.438000													56	62					0	0	0.000781405	0	0
CTC1	80169	broad.mit.edu	37	17	8137886	8137886	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:8137886G>C	ENST00000315684.8	-	10	1712	c.1705C>G	c.(1705-1707)Cct>Gct	p.P569A		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	569					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AGGGCCTTAGGGTCAAAGGAG	0.632000													13	2					0	0	0.000308642	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558523	140558523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140558523G>A	ENST00000239444.2	+	1	1153	c.908G>A	c.(907-909)cGa>cAa	p.R303Q		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		303	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGAAATTCGACTAAAGAAA	0.393000													37	57					0	0	0.000953801	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913819	77913819	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:77913819G>A	ENST00000321110.1	-	2	394	c.99C>T	c.(97-99)ctC>ctT	p.L33L		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	33							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TCTGGGCCTGGAGAGCAGCAT	0.522000													11	3					0	0	0.00185496	0	0
FZD10	11211	broad.mit.edu	37	12	130648351	130648351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:130648351C>T	ENST00000539839.1	+	1	1348	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	FZD10_ENST00000229030.4_Silent_p.I288I	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCGAGAGCATCGCCTGCGACC	0.642000													46	36					0	0	0.000781405	0	0
RBM34	23029	broad.mit.edu	37	1	235316029	235316029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:235316029G>A	ENST00000408888.3	-	5	879	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	RBM34_ENST00000366606.3_Missense_Mutation_p.R212C			P42696	RBM34_HUMAN	RNA binding motif protein 34	217	RRM 1.					nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			ACCAGAGAACGAAATCGTACA	0.299000													43	32					0	0	0.000781405	0	0
FAT4	79633	broad.mit.edu	37	4	126412574	126412574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:126412574G>A	ENST00000394329.3	+	17	14610	c.14597G>A	c.(14596-14598)aGa>aAa	p.R4866K	FAT4_ENST00000335110.5_Missense_Mutation_p.R3107K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4866					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATACTTCCAGAATGCCCAAA	0.448000													19	19					0	0	0.000958276	0	0
DLL4	54567	broad.mit.edu	37	15	41229658	41229658	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:41229658G>A	ENST00000249749.5	+	10	2262	c.1986G>A	c.(1984-1986)agG>agA	p.R662R		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	662					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCTCCCCCAGGGACTCCATGT	0.552000													116	104					0	0	0.000781405	0	0
WNT3	7473	broad.mit.edu	37	17	44845943	44845943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:44845943C>T	ENST00000225512.5	-	4	973	c.811G>A	c.(811-813)Gag>Aag	p.E271K		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	271					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AGGTCCCTCTCCGTGGGTGGC	0.592000													18	60					0	0	0.000958276	0	0
DNAH5	1767	broad.mit.edu	37	5	13700980	13700980	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:13700980C>T	ENST00000265104.4	-	78	13596	c.13491_splice	c.e78-1	p.E4498_splice		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4498					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E4498K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGAGTTATTTCCTATTCAGGG	0.453000									Kartagener syndrome				71	10					0	0	0.000781405	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37441020	37441020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:37441020G>A	ENST00000374660.1	+	12	1609	c.1510G>A	c.(1510-1512)Gac>Aac	p.D504N	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D504N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D504N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	560						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAAACAAAAGGACTATGAAGA	0.299000													14	58					0	0	0.000422831	0	0
OR5T3	390154	broad.mit.edu	37	11	56020462	56020462	+	Missense_Mutation	SNP	G	G	A	rs141819352		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:56020462G>A	ENST00000303059.3	+	1	787	c.787G>A	c.(787-789)Gga>Aga	p.G263R		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G263R(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCTGCTAAGGGAAGGCAAAA	0.413000													82	95					0	0	0.000781405	0	0
PTCH2	8643	broad.mit.edu	37	1	45295150	45295150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:45295150G>A	ENST00000447098.2	-	9	1150	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	PTCH2_ENST00000372192.3_Missense_Mutation_p.S380F	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	380					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CAGGGTGGTGGAGGAGAAGGC	0.612000									Basal Cell Nevus syndrome				93	45					0	0	0.000781405	0	0
P2RX3	5024	broad.mit.edu	37	11	57137384	57137384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:57137384G>A	ENST00000263314.2	+	12	1142	c.1108G>A	c.(1108-1110)Gct>Act	p.A370T		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	370					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GAAAATCGCGGCTTTGACCAA	0.552000													4	27					0	0	0.00116845	0	0
DGKQ	1609	broad.mit.edu	37	4	956341	956341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:956341G>A	ENST00000273814.3	-	18	2169	c.2096C>T	c.(2095-2097)tCc>tTc	p.S699F		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	699	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CAGCAGTACGGAGAACGGGTC	0.647000													17	17					0	0	0.00121646	0	0
SPAG9	9043	broad.mit.edu	37	17	49052262	49052262	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:49052262G>A	ENST00000262013.7	-	28	3778	c.3570C>T	c.(3568-3570)atC>atT	p.I1190I	SPAG9_ENST00000357122.4_Silent_p.I1176I|SPAG9_ENST00000510283.1_Silent_p.I1046I|SPAG9_ENST00000505279.1_Silent_p.I1180I	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1190					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)			CATATACACGGATTACACTTC	0.413000													29	21					0	0	0.001512	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17053131	17053131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:17053131G>A	ENST00000262096.8	+	4	1066	c.371G>A	c.(370-372)gGa>gAa	p.G124E		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	124						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		ACCATGTCTGGAGGTAAATGT	0.413000													43	28					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179467247	179467247	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:179467247T>G	ENST00000589042.1	-	283	55106	c.54882A>C	c.(54880-54882)aaA>aaC	p.K18294N	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K9421N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K15726N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K9354N|TTN_ENST00000460472.2_Missense_Mutation_p.K9229N|TTN_ENST00000591111.1_Missense_Mutation_p.K16653N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16653	Fibronectin type-III 32.						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)			TGGCTGGAGGTTTCCATCCTA	0.408000													4	18					0	0	0.00024832	0	0
COX10-AS1	100874058	broad.mit.edu	37	17	13928350	13928350	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:13928350G>A	ENST00000602743.1	-	0	224																											TCCAGCCAAGGACCAGACCAA	0.602000													43	3					0	0	0.000781405	0	0
CPA5	93979	broad.mit.edu	37	7	130007368	130007368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:130007368C>T	ENST00000485477.1	+	10	2123	c.994C>T	c.(994-996)Cct>Tct	p.P332S	CPA5_ENST00000431780.2_Missense_Mutation_p.P332S|CPA5_ENST00000393213.3_Missense_Mutation_p.P332S|CPA5_ENST00000355388.3_Missense_Mutation_p.P332S|CPA5_ENST00000461828.1_Missense_Mutation_p.P332S|CPA5_ENST00000466363.2_Missense_Mutation_p.P332S|CPA5_ENST00000474905.1_Missense_Mutation_p.P332S			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	332					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GCTTATGTACCCTTACGGCCG	0.542000													44	94					0	0	0.000781405	0	0
MORC1	27136	broad.mit.edu	37	3	108698393	108698393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:108698393C>T	ENST00000232603.5	-	24	2528	c.2446G>A	c.(2446-2448)Gaa>Aaa	p.E816K	MORC1_ENST00000483760.1_Missense_Mutation_p.E795K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	816					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTCACTGTTTCCTTGACAGGT	0.398000													67	70					0	0	0.000781405	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95116051	95116051	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:95116051C>T	ENST00000379982.3	+	9	1886	c.1378C>T	c.(1378-1380)Ctg>Ttg	p.L460L	GLRX_ENST00000508780.1_Intron|RHOBTB3_ENST00000504179.1_Silent_p.L91L	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	460	BTB 2.|Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AAAGAGTGTCCTGATTCCCGT	0.458000													27	19					0	0	0.000878237	0	0
PIK3R5	23533	broad.mit.edu	37	17	8814745	8814745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:8814745C>T	ENST00000447110.1	-	2	191	c.67G>A	c.(67-69)Gga>Aga	p.G23R	PIK3R5_ENST00000581552.1_Missense_Mutation_p.G23R|PIK3R5_ENST00000584803.1_Missense_Mutation_p.G23R	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	23					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGGCTGAGTCCATGCAGGCAG	0.682000													88	7					0	0	0.000781405	0	0
PRAM1	84106	broad.mit.edu	37	19	8563512	8563512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:8563512G>A	ENST00000423345.4	-	2	1700	c.1180C>T	c.(1180-1182)Cct>Tct	p.P394S	PRAM1_ENST00000255612.3_Missense_Mutation_p.P394S			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	442	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						ACGGCCGCAGGCAGTGAGCTC	0.672000													19	8					0	0	0.00188189	0	0
SCN1A	6323	broad.mit.edu	37	2	166901655	166901655	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:166901655G>A	ENST00000423058.2	-	10	1577	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	SCN1A_ENST00000303395.4_Silent_p.F520F|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.F520F|SCN1A_ENST00000409050.1_Silent_p.F520F|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	520						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CAGATTTTTGGAATTCATCCT	0.438000													95	119					0	0	0.000781405	0	0
ACSM5	54988	broad.mit.edu	37	16	20439153	20439153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:20439153C>T	ENST00000331849.4	+	7	1112	c.965C>T	c.(964-966)aCc>aTc	p.T322I		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	322					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGTGTCCCAACCATCTTTCGG	0.473000													53	102					0	0	0.000781405	0	0
AGAP1	116987	broad.mit.edu	37	2	236708057	236708057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:236708057C>T	ENST00000409538.1	+	8	2139	c.1643C>T	c.(1642-1644)cCa>cTa	p.P548L	AGAP1_ENST00000336665.5_Missense_Mutation_p.P283L|AGAP1_ENST00000409457.1_Missense_Mutation_p.P283L|AGAP1_ENST00000428334.2_Missense_Mutation_p.P122L|AGAP1_ENST00000304032.7_Missense_Mutation_p.P283L			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	283	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCCTCCGTTCCATCGACTCCC	0.517000													33	25					0	0	0.000953801	0	0
NTRK3	4916	broad.mit.edu	37	15	88799275	88799275	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:88799275A>G	ENST00000394480.1	-	3	431	c.110T>C	c.(109-111)gTc>gCc	p.V37A	NTRK3_ENST00000540489.2_Missense_Mutation_p.V37A|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000317501.3_Missense_Mutation_p.V37A|NTRK3_ENST00000360948.2_Missense_Mutation_p.V37A|NTRK3_ENST00000558676.1_Missense_Mutation_p.V37A|NTRK3_ENST00000355254.2_Missense_Mutation_p.V37A|NTRK3_ENST00000557856.1_Missense_Mutation_p.V37A|NTRK3_ENST00000357724.2_Missense_Mutation_p.V37A	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	37					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)			CTTGCTGCAGACACAATTTGC	0.572000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			11	107					0	0	0.00185496	0	0
C20orf85	128602	broad.mit.edu	37	20	56735719	56735719	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:56735719C>T	ENST00000371168.3	+	4	316	c.255C>T	c.(253-255)gtC>gtT	p.V85V		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	85								p.V85V(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			CATTCCAGGTCTTTCCATCCC	0.567000													13	34					0	0	0.00185496	0	0
NVL	4931	broad.mit.edu	37	1	224477369	224477369	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:224477369G>A	ENST00000281701.6	-	13	1651	c.1392C>T	c.(1390-1392)caC>caT	p.H464H	NVL_ENST00000340871.4_Silent_p.H275H|NVL_ENST00000482491.1_Silent_p.H188H|NVL_ENST00000469075.1_Silent_p.H373H|NVL_ENST00000391875.2_Silent_p.H358H|NVL_ENST00000361463.3_Silent_p.H358H	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	464						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CTGGAGTTAGGTGTGCTAAGT	0.433000													17	33					0	0	0.00074312	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648648	41648648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:41648648G>A	ENST00000313860.7	+	12	1457	c.1403G>A	c.(1402-1404)aGa>aAa	p.R468K	LIMCH1_ENST00000512946.1_Missense_Mutation_p.R468K|LIMCH1_ENST00000514096.1_Missense_Mutation_p.R309K|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R456K|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R853K|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R468K|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R297K|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R302K|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R314K|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R309K|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R468K|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R302K	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	468					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ATTCTGGAAAGAAGCCATTCA	0.498000													69	81					0	0	0.000781405	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816240	156816240	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:156816240G>C	ENST00000347377.6	+	29	3682	c.3251G>C	c.(3250-3252)cGg>cCg	p.R1084P	CYFIP2_ENST00000521420.1_Missense_Mutation_p.R1058P|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R783P|CYFIP2_ENST00000522463.1_Missense_Mutation_p.R888P|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R1009P|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R1084P|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R1109P	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1109					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCAAGGAGCGGCTGTGCTGT	0.607000													128	102					0	0	0.000781405	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030123	95030123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:95030123C>T	ENST00000557004.1	+	2	725	c.304C>T	c.(304-306)Ctt>Ttt	p.L102F	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.L102F|SERPINA4_ENST00000555095.1_Missense_Mutation_p.L102F			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	102					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CAGCCAGATCCTTGAGGGCCT	0.632000													13	33					0	0	0.00185496	0	0
BSN	8927	broad.mit.edu	37	3	49699171	49699171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:49699171C>T	ENST00000296452.4	+	6	10007	c.9893C>T	c.(9892-9894)cCc>cTc	p.P3298L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3298					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCATACGATCCCCGCGGGAAG	0.602000													42	6					0	0	0.00195071	0	0
SH2D3C	10044	broad.mit.edu	37	9	130536329	130536329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:130536329G>A	ENST00000314830.8	-	2	568	c.455C>T	c.(454-456)cCt>cTt	p.P152L	SH2D3C_ENST00000471939.1_5'UTR	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	152					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGGACCTCAGGCTTTCTGAT	0.602000													33	6					0	0	0.00209593	0	0
DDX39B	7919	broad.mit.edu	37	6	31503198	31503198	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:31503198G>A	ENST00000417556.2	-	7	1356	c.726C>T	c.(724-726)ttC>ttT	p.F242F	DDX39B_ENST00000376177.2_Silent_p.F227F|DDX39B_ENST00000458640.1_Silent_p.F227F|DDX39B_ENST00000396172.1_Silent_p.F227F|DDX39B_ENST00000415382.2_Silent_p.F149F|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000453105.2_Silent_p.F180F			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	227	Helicase ATP-binding.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AGGTAGCACTGAACATCATGA	0.493000													66	86					0	0	0.000781405	0	0
PDIA2	64714	broad.mit.edu	37	16	336925	336925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:336925G>A	ENST00000219406.6	+	10	1531	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	PDIA2_ENST00000404312.1_Missense_Mutation_p.E502K	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	505					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCCCCCGGAGGAGCCAGCAGC	0.632000													11	6					0	0	0.00185496	0	0
SLC7A14	57709	broad.mit.edu	37	3	170201138	170201138	+	Silent	SNP	G	G	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:170201138G>T	ENST00000231706.4	-	6	1395	c.1080C>A	c.(1078-1080)gtC>gtA	p.V360V	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	360						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGGCATAAATGACCCTCGGCA	0.547000											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	76					9.17885e-22	4.43509e-21	0.00058488	1	0
KRT6C	286887	broad.mit.edu	37	12	52867508	52867508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:52867508G>A	ENST00000252250.6	-	1	61	c.14C>T	c.(13-15)tCc>tTc	p.S5F		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	5	Head.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GATGGTGGTGGATGTGCTGGC	0.642000													16	23					0	0	0.000720815	0	0
P2RX7	5027	broad.mit.edu	37	12	121622587	121622587	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:121622587C>T	ENST00000328963.5	+	12	1714	c.1260C>T	c.(1258-1260)ggC>ggT	p.G420G	P2RX7_ENST00000541446.1_Silent_p.G301G|P2RX7_ENST00000546057.1_Silent_p.G590G|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_Silent_p.G500G			A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	590						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGTACAGTGGCTTCAAGAGTC	0.597000													16	56					0	0	0.000308642	0	0
DGKI	9162	broad.mit.edu	37	7	137284623	137284623	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:137284623C>T	ENST00000453654.1	-	11	835	c.296G>A	c.(295-297)tGg>tAg	p.W99*	DGKI_ENST00000288490.5_Nonsense_Mutation_p.W399*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.W399*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.W399*			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	399	Poly-Ala.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATTCAGGTACCACATGAACAT	0.373000													8	60					0	0	0.000673444	0	0
TTYH1	57348	broad.mit.edu	37	19	54930474	54930474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:54930474C>T	ENST00000301194.4	+	2	421	c.299C>T	c.(298-300)gCc>gTc	p.A100V	TTYH1_ENST00000391739.3_Missense_Mutation_p.A149V|TTYH1_ENST00000376531.3_Missense_Mutation_p.A100V|TTYH1_ENST00000376530.3_Missense_Mutation_p.A100V			Q9H313	TTYH1_HUMAN	tweety family member 1	100					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)		GCCCTTCTCGCCGGCTGGTAA	0.706000													15	21					0	0	0.000566183	0	0
ELK4	2005	broad.mit.edu	37	1	205592869	205592869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:205592869G>A	ENST00000357992.4	-	2	481	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	ELK4_ENST00000468523.1_5'UTR|ELK4_ENST00000289703.4_Missense_Mutation_p.R48C	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TTGTTCTTGCGAATCCCCCAG	0.448000			T	SLC45A3	prostate								102	68					0	0	0.000781405	0	0
CPNE6	9362	broad.mit.edu	37	14	24545039	24545039	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:24545039G>A	ENST00000397016.2	+	11	1179	c.868G>A	c.(868-870)Gag>Aag	p.E290K	CPNE6_ENST00000537691.1_Missense_Mutation_p.E345K|CPNE6_ENST00000216775.2_Missense_Mutation_p.E290K			O95741	CPNE6_HUMAN	copine VI (neuronal)	290					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCTCCAGGTGGAGAAGGTGCA	0.602000													14	33					0	0	0.000566183	0	0
TRIM25	7706	broad.mit.edu	37	17	54969117	54969117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:54969117G>A	ENST00000316881.4	-	9	1886	c.1837C>T	c.(1837-1839)Ccg>Tcg	p.P613S	RP11-670E13.5_ENST00000574826.1_RNA|TRIM25_ENST00000537230.1_Missense_Mutation_p.P613S	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	613	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CAGAAAGCCGGGTACAAAGCC	0.537000													6	20					0	0	0.00116845	0	0
KCNN3	3782	broad.mit.edu	37	1	154705554	154705554	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:154705554G>A	ENST00000271915.3	-	4	1830	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	KCNN3_ENST00000358505.2_Silent_p.F192F|KCNN3_ENST00000361147.4_Silent_p.F200F	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	510						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CAATGGAAAGGAATGTGATGG	0.522000													51	22					0	0	0.000781405	0	0
CEP120	153241	broad.mit.edu	37	5	122722351	122722351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:122722351G>A	ENST00000306467.5	-	10	1745	c.1441C>T	c.(1441-1443)Cca>Tca	p.P481S	CEP120_ENST00000306481.6_Missense_Mutation_p.P455S|CEP120_ENST00000328236.5_Missense_Mutation_p.P481S			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	481						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CCAAAGAATGGATATGAGTAC	0.303000													14	25					0	0	0.00185496	0	0
PITX2	5308	broad.mit.edu	37	4	111539383	111539383	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:111539383C>T	ENST00000354925.2	-	7	2557	c.852G>A	c.(850-852)ctG>ctA	p.L284L	PITX2_ENST00000306732.3_Silent_p.L291L|PITX2_ENST00000394598.2_Silent_p.L284L|PITX2_ENST00000355080.5_Silent_p.L238L|PITX2_ENST00000394595.3_3'UTR	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	284					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTTTCAGTCTCAGGCTGGCCA	0.622000													16	19					0	0	0.000308642	0	0
ATXN1	6310	broad.mit.edu	37	6	16326638	16326638	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:16326638T>C	ENST00000244769.4	-	8	2840	c.1904A>G	c.(1903-1905)gAg>gGg	p.E635G	ATXN1_ENST00000436367.1_Missense_Mutation_p.E635G	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	635	AXH.|Interaction with USP7.|RNA-binding.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGCTCGGTGCTCCCCGACGGC	0.577000													27	51					0	0	0.00209593	0	0
PHYH	5264	broad.mit.edu	37	10	13330474	13330474	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:13330474G>A	ENST00000396920.3	-	6	917	c.513C>T	c.(511-513)ctC>ctT	p.L171L	PHYH_ENST00000263038.4_Silent_p.L188L|PHYH_ENST00000396913.2_Silent_p.L88L			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	188					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	CGCAAACGATGAGATCGCTGG	0.577000													40	23					0	0	0.000781405	0	0
AIM2	9447	broad.mit.edu	37	1	159043271	159043271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:159043271C>T	ENST00000368130.4	-	2	307	c.19G>A	c.(19-21)Gag>Aag	p.E7K		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	7	DAPIN.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AAGAGTATCTCCTTGTATTTA	0.373000													73	41					0	0	0.000781405	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203607	84203607	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:84203607G>A	ENST00000378553.5	+	8	1297	c.1173G>A	c.(1171-1173)ccG>ccA	p.P391P	DNAAF1_ENST00000334315.5_Silent_p.P391P|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	391	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AGCTCTGCCCGGAAAAGCCAA	0.582000													32	26					0	0	0.0024448	0	0
SLC17A8	246213	broad.mit.edu	37	12	100806590	100806590	+	Missense_Mutation	SNP	C	C	T	rs77232189		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:100806590C>T	ENST00000323346.5	+	10	1542	c.1229C>T	c.(1228-1230)tCg>tTg	p.S410L	SLC17A8_ENST00000392989.3_Missense_Mutation_p.S360L|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	410					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GTTGGCTTTTCGCATACCAAA	0.448000													70	52					0	0	0.000781405	0	0
FBXL3	26224	broad.mit.edu	37	13	77581760	77581760	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:77581760G>A	ENST00000355619.5	-	5	1131	c.807C>T	c.(805-807)ttC>ttT	p.F269F	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	269					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		GAATAGTATGGAAGTGTGTCT	0.373000													25	24					0	0	0.00106085	0	0
KDM2B	84678	broad.mit.edu	37	12	121932437	121932437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:121932437G>A	ENST00000377069.4	-	12	1992	c.1586C>T	c.(1585-1587)cCt>cTt	p.P529L	KDM2B_ENST00000377071.4_Missense_Mutation_p.P560L|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000536437.1_Missense_Mutation_p.P443L|KDM2B_ENST00000538046.2_Missense_Mutation_p.P470L	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	560					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGCCAGACTAGGGTCATCATC	0.582000											OREG0022202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	11					0	0	0.000157383	0	0
MCHR2	84539	broad.mit.edu	37	6	100395740	100395740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:100395740C>T	ENST00000281806.2	-	3	604	c.290G>A	c.(289-291)gGa>gAa	p.G97E	MCHR2_ENST00000369212.1_Missense_Mutation_p.G97E|MCHR2_ENST00000445970.1_Missense_Mutation_p.G97E	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	97						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)		CACCCACTCTCCCCCTCGGGC	0.488000													69	9					0	0	0.000781405	0	0
C1orf116	79098	broad.mit.edu	37	1	207196695	207196695	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:207196695G>A	ENST00000359470.5	-	4	663	c.414C>T	c.(412-414)atC>atT	p.I138I	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	138						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TGGCAATGTGGATATTCCTAG	0.587000													39	27					0	0	0.00170553	0	0
IGHV1-24	28467	broad.mit.edu	37	14	106733218	106733218	+	RNA	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:106733218T>C	ENST00000390610.2	-	0	336																											TCTGTAGATGTGTCCTCGGTC	0.512000													116	100					0	0	0.000781405	0	0
OR1L6	392390	broad.mit.edu	37	9	125512186	125512186	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:125512186C>T	ENST00000373684.1	+	1	168	c.168C>T	c.(166-168)tcC>tcT	p.S56S	OR1L6_ENST00000304720.2_Silent_p.S20S			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GCCTCTCTTCCAACCCTCAGC	0.542000													74	15					0	0	0.000781405	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641620	106641620	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:106641620G>A	ENST00000390605.2	-	0	352																											GCTCCATGTAGGCTGTGCTCG	0.527000													45	147					0	0	0.000781405	0	0
SPDYE3	441272	broad.mit.edu	37	7	99905580	99905580	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:99905580G>A	ENST00000332397.6	+	1	256	c.72G>A	c.(70-72)caG>caA	p.Q24Q	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	24										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						ACCCCCTCCAGGAGGTGGTGG	0.582000													7	2					0	0	0.000157383	0	0
APOL1	8542	broad.mit.edu	37	22	36653381	36653381	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:36653381C>T	ENST00000319136.4	+	5	430	c.163C>T	c.(163-165)Cca>Tca	p.P55S	APOL1_ENST00000426053.1_Missense_Mutation_p.P21S|APOL1_ENST00000397279.4_Missense_Mutation_p.P39S|APOL1_ENST00000422706.1_Missense_Mutation_p.P39S|APOL1_ENST00000440669.2_Missense_Mutation_p.P39S|APOL1_ENST00000347595.7_Intron|APOL1_ENST00000397278.3_Missense_Mutation_p.P39S	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	39					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						ACAAAACGTTCCAAGTGGGAC	0.562000													60	75					0	0	0.000781405	0	0
EDN2	1907	broad.mit.edu	37	1	41948200	41948200	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:41948200C>G	ENST00000372587.4	-	3	350	c.281G>C	c.(280-282)aGg>aCg	p.R94T	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	94					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGACAGCGCCTTGGCAGGGA	0.682000													91	31					0	0	0.000781405	0	0
AKR1B10	57016	broad.mit.edu	37	7	134221440	134221440	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:134221440C>T	ENST00000359579.4	+	5	788	c.468C>T	c.(466-468)gcC>gcT	p.A156A	AKR1B10_ENST00000475559.1_Intron	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	156					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TGGTGAAAGCCCTTGGGGTCT	0.493000													36	113					0	0	0.00058488	0	0
ABCC9	10060	broad.mit.edu	37	12	21965081	21965081	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:21965081G>A	ENST00000261200.4	-	34	4112	c.4113C>T	c.(4111-4113)gtC>gtT	p.V1371V	ABCC9_ENST00000345162.2_Silent_p.V1335V|ABCC9_ENST00000261201.4_Silent_p.V1371V	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1371	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCCCATCAATGACAATTTTTC	0.323000													47	41					0	0	0.000781405	0	0
STXBP5L	9515	broad.mit.edu	37	3	120941855	120941855	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:120941855C>T	ENST00000273666.6	+	11	1233	c.962C>T	c.(961-963)cCa>cTa	p.P321L	STXBP5L_ENST00000497029.1_Missense_Mutation_p.P321L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P321L|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P321L|STXBP5L_ENST00000471454.1_Missense_Mutation_p.P321L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	321					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)		TGTAGCGAACCATTCATAATA	0.373000													40	82					0	0	0.00195071	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622704	65622704	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:65622704G>A	ENST00000327987.4	-	11	2036	c.1785C>T	c.(1783-1785)ctC>ctT	p.L595L		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	595	Fibronectin type-III 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGTTGTAGGCGAGCAGCTTCA	0.612000													38	73					0	0	0.00195071	0	0
TRIM72	493829	broad.mit.edu	37	16	31234160	31234160	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:31234160C>T	ENST00000322122.3	+	6	1037	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	251					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						TGCAGAAGATCCTGGCAGAGT	0.612000													4	30					0	0	0.000602214	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581424	40581424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:40581424C>T	ENST00000450241.2	-	6	1134	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	ZNF780A_ENST00000340963.5_Missense_Mutation_p.E309K|ZNF780A_ENST00000595687.2_Missense_Mutation_p.E309K|ZNF780A_ENST00000594395.1_Missense_Mutation_p.E310K|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.E310K|AC005614.5_ENST00000595508.1_RNA			O75290	Z780A_HUMAN	zinc finger protein 780A	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATCCCACATTCCTTACATACA	0.388000													49	59					0	0	0.000781405	0	0
NRXN2	9379	broad.mit.edu	37	11	64428249	64428249	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:64428249A>T	ENST00000265459.6	-	10	2622	c.2161T>A	c.(2161-2163)Ttt>Att	p.F721I	NRXN2_ENST00000377551.1_Missense_Mutation_p.F721I|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000409571.1_Missense_Mutation_p.F714I|NRXN2_ENST00000377559.3_Missense_Mutation_p.F690I	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	721	EGF-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGCCCAAGAAAGCCGGTCCCG	0.602000													13	50					0	0	0.000219431	0	0
MUC16	94025	broad.mit.edu	37	19	9086175	9086175	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9086175A>T	ENST00000397910.4	-	1	5843	c.5640T>A	c.(5638-5640)gaT>gaA	p.D1880E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1880	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGAAGAGGTATCAGAGCCGT	0.502000													22	12					0	0	0.000375601	0	0
KEL	3792	broad.mit.edu	37	7	142640645	142640645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:142640645G>A	ENST00000355265.2	-	15	2105	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	544					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GTCAGATACCGAATAGTAAGC	0.557000													89	26					0	0	0.000781405	0	0
HERC2P9	440248	broad.mit.edu	37	15	28903845	28903845	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:28903845C>T	ENST00000528584.1	+	0	609					NR_036443.1																						CGCTGTTCTCCCACCAGGATA	0.498000													43	32					0	0	0.000781405	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628498	51628498	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:51628498C>T	ENST00000440804.3	+	1	334	c.267C>T	c.(265-267)gaC>gaT	p.D89D	SIGLEC9_ENST00000250360.3_Silent_p.D89D	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	89	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGACTCGGGACCGATTCCACC	0.552000													21	99					0	0	0.00229938	0	0
RNASEL	6041	broad.mit.edu	37	1	182544549	182544549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:182544549C>T	ENST00000367559.3	-	7	2457	c.2204G>A	c.(2203-2205)gGg>gAg	p.G735E	RNASEL_ENST00000444138.1_Missense_Mutation_p.G735E	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	735					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GCTGGCCAACCCACTGGCCCC	0.483000													26	86					0	0	0.00209593	0	0
RBM47	54502	broad.mit.edu	37	4	40440446	40440446	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:40440446G>A	ENST00000319592.4	-	4	1174	c.465C>T	c.(463-465)atC>atT	p.I155I	RBM47_ENST00000514014.1_Silent_p.I117I|RBM47_ENST00000381795.6_Silent_p.I155I|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Silent_p.I155I|RBM47_ENST00000381793.2_Silent_p.I155I			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	155	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGATCCCGCCGATGAAGAGGC	0.652000													28	26					0	0	0.00127121	0	0
COL13A1	1305	broad.mit.edu	37	10	71707091	71707091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:71707091G>A	ENST00000356340.3	+	36	2554	c.2018G>A	c.(2017-2019)gGa>gAa	p.G673E	COL13A1_ENST00000398966.3_Missense_Mutation_p.G651E|COL13A1_ENST00000398972.3_Missense_Mutation_p.G659E|COL13A1_ENST00000398971.3_Missense_Mutation_p.G658E|COL13A1_ENST00000398968.3_Missense_Mutation_p.G654E|COL13A1_ENST00000517713.1_Missense_Mutation_p.G624E|COL13A1_ENST00000398974.3_Missense_Mutation_p.G661E|COL13A1_ENST00000520133.1_Missense_Mutation_p.G595E|COL13A1_ENST00000398978.3_Missense_Mutation_p.G673E|COL13A1_ENST00000520267.1_Missense_Mutation_p.G601E|COL13A1_ENST00000357811.3_Missense_Mutation_p.G639E|COL13A1_ENST00000354547.3_Missense_Mutation_p.G651E|COL13A1_ENST00000398964.3_Missense_Mutation_p.G644E|COL13A1_ENST00000398969.3_Missense_Mutation_p.G601E|COL13A1_ENST00000522165.1_Missense_Mutation_p.G642E|COL13A1_ENST00000398973.3_Missense_Mutation_p.G647E			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	673	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GGGGACAAGGGAAACCGGGTG	0.517000													13	2					0	0	0.000422831	0	0
FGFR4	2264	broad.mit.edu	37	5	176524556	176524556	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:176524556C>G	ENST00000292408.4	+	18	2533	c.2288C>G	c.(2287-2289)cCc>cGc	p.P763R	FGFR4_ENST00000393637.1_Missense_Mutation_p.P723R|FGFR4_ENST00000393648.2_Missense_Mutation_p.P695R|FGFR4_ENST00000502906.1_Missense_Mutation_p.P763R|FGFR4_ENST00000292410.3_Missense_Mutation_p.P723R	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	763					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	ACCTTCGGACCCTATTCCCCC	0.667000										TSP Lung(9;0.080)			14	32					0	0	0.000219431	0	0
NMUR1	10316	broad.mit.edu	37	2	232393679	232393679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:232393679C>T	ENST00000305141.4	-	2	186	c.53G>A	c.(52-54)gGg>gAg	p.G18E		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	18					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCTTGCACCCCCTGGGTACAG	0.572000													18	22					0	0	0.00152264	0	0
PDE1A	5136	broad.mit.edu	37	2	183095838	183095838	+	Silent	SNP	G	G	A	rs142773553		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:183095838G>A	ENST00000435564.1	-	5	686	c.486C>T	c.(484-486)ttC>ttT	p.F162F	PDE1A_ENST00000351439.5_Silent_p.F146F|PDE1A_ENST00000358139.2_Silent_p.F162F|PDE1A_ENST00000346717.4_Silent_p.F128F|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000410103.1_Silent_p.F162F|PDE1A_ENST00000409365.1_Silent_p.F146F|PDE1A_ENST00000331935.6_Silent_p.F162F|PDE1A_ENST00000456212.1_Silent_p.F162F|PDE1A_ENST00000536095.1_Silent_p.F58F	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	162					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CAAATACATCGAAAGACCATT	0.328000													58	84					0	0	0.000781405	0	0
FBXO7	25793	broad.mit.edu	37	22	32894166	32894166	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:32894166C>T	ENST00000266087.7	+	9	1545	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S	FBXO7_ENST00000382058.3_Silent_p.S327S|FBXO7_ENST00000397426.1_Silent_p.S292S	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	406					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAAAAGAATCCCCGAAAGGGC	0.453000													31	130					0	0	0.000491102	0	0
TPTE2	93492	broad.mit.edu	37	13	20025334	20025334	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:20025334C>T	ENST00000400230.2	-	11	817	c.773G>A	c.(772-774)cGa>cAa	p.R258Q	TPTE2_ENST00000255310.6_Missense_Mutation_p.R181Q|TPTE2_ENST00000457266.2_Missense_Mutation_p.R147Q|TPTE2_ENST00000382978.1_Missense_Mutation_p.R218Q|TPTE2_ENST00000382977.4_Missense_Mutation_p.R258Q|TPTE2_ENST00000390680.2_Missense_Mutation_p.R181Q|TPTE2_ENST00000400103.2_Missense_Mutation_p.R147Q|TPTE2_ENST00000382975.4_Missense_Mutation_p.R218Q			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	258	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.R181Q(2)		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)		ATAGTGGTTTCGATGTTTCTT	0.363000													25	22					0	0	0.001512	0	0
NUTM1	256646	broad.mit.edu	37	15	34640841	34640841	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:34640841C>T	ENST00000537011.1	+	3	1154	c.772C>T	c.(772-774)Cag>Tag	p.Q258*	NUTM1_ENST00000438749.3_Nonsense_Mutation_p.Q248*|NUTM1_ENST00000333756.4_Nonsense_Mutation_p.Q230*					NUT midline carcinoma, family member 1																		GCACCTATCCCAGAGTCCTGA	0.483000													41	51					0	0	0.000680045	0	0
SHC3	53358	broad.mit.edu	37	9	91666967	91666967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:91666967G>A	ENST00000375835.4	-	7	1253	c.947C>T	c.(946-948)cCc>cTc	p.P316L	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	316	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						ATGGAGAGCGGGAATCTTGGT	0.488000													51	8					0	0	0.000781405	0	0
CPB1	1360	broad.mit.edu	37	3	148559645	148559645	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:148559645C>T	ENST00000491148.1	+	7	844	c.510C>T	c.(508-510)ttC>ttT	p.F170F	CPB1_ENST00000282957.4_Silent_p.F170F			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	170					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTGCCATTTTCATGGACTGTG	0.438000													75	78					0	0	0.000781405	0	0
OBSCN	84033	broad.mit.edu	37	1	228471227	228471227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:228471227G>A	ENST00000570156.2	+	38	10122	c.10048G>A	c.(10048-10050)Gag>Aag	p.E3350K	OBSCN_ENST00000284548.11_Missense_Mutation_p.E2921K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E1768K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E2921K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E40K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E40K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2384	Ig-like 33.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTTCACAGAGGAGCTGACCAA	0.612000													27	17					0	0	0.000491102	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325570	150325570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:150325570C>T	ENST00000328902.5	-	3	332	c.116G>A	c.(115-117)aGg>aAg	p.R39K	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	39							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCAGTCTCCTTGGGGTCTT	0.517000													69	28					0	0	0.000781405	0	0
TENM4	26011	broad.mit.edu	37	11	78399209	78399209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:78399209C>T	ENST00000278550.7	-	29	5612	c.5150G>A	c.(5149-5151)cGa>cAa	p.R1717Q		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGTATCACTTCGGAAACTGCT	0.517000													47	108					0	0	0.000781405	0	0
TRPM5	29850	broad.mit.edu	37	11	2436006	2436006	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:2436006C>T	ENST00000452833.1	-	11	1697	c.1689G>A	c.(1687-1689)ctG>ctA	p.L563L	TRPM5_ENST00000528453.1_Silent_p.L561L|TRPM5_ENST00000155858.6_Silent_p.L561L|TRPM5_ENST00000533060.1_Silent_p.L561L			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	561						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)		CCTCCGTCTCCAGGTGCGACA	0.721000													44	77					0	0	0.000781405	0	0
OR4X2	119764	broad.mit.edu	37	11	48266696	48266696	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:48266696A>C	ENST00000302329.3	+	1	89	c.41A>C	c.(40-42)gAg>gCg	p.E14A		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CCCAACCAGGAGGTGCAGAGG	0.448000													17	55					0	0	0.000958276	0	0
GRM4	2914	broad.mit.edu	37	6	34101012	34101012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:34101012G>A	ENST00000374181.3	-	1	431	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	GRM4_ENST00000374177.3_Intron|GRM4_ENST00000538487.1_Missense_Mutation_p.R88C	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	88					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TTGTTGATGCGATCCAGGGCG	0.632000													28	27					0	0	0.0024448	0	0
HEPH	9843	broad.mit.edu	37	X	65486392	65486392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:65486392C>T	ENST00000519389.1	+	21	3696	c.3517C>T	c.(3517-3519)Ctt>Ttt	p.L1173F	HEPH_ENST00000441993.2_Missense_Mutation_p.L1121F|HEPH_ENST00000336279.5_Missense_Mutation_p.L852F|HEPH_ENST00000374727.3_Missense_Mutation_p.L1122F|HEPH_ENST00000419594.1_Missense_Mutation_p.L930F|HEPH_ENST00000343002.2_Missense_Mutation_p.L1119F			Q9BQS7	HEPH_HUMAN	hephaestin	1119					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TAGTGTCACCCTTCTGCTCGT	0.488000													35	1					0	0	0.000953801	0	0
ITGB7	3695	broad.mit.edu	37	12	53594063	53594063	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:53594063G>A	ENST00000267082.5	-	3	396	c.165C>T	c.(163-165)atC>atT	p.I55I	ITGB7_ENST00000422257.3_Silent_p.I55I|ITGB7_ENST00000338737.4_Silent_p.I55I|ITGB7_ENST00000550743.2_Silent_p.I55I	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	55					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTGTGAGAGGATGCACTTCT	0.542000													12	57					0	0	0.000978159	0	0
FRG1B	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	C	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:29625891C>G	ENST00000278882.3	+	5	515	c.135C>G	c.(133-135)ggC>ggG	p.G45G	FRG1B_ENST00000358464.4_Silent_p.G45G|FRG1B_ENST00000439954.2_Silent_p.G50G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343000													6	120					0	0	0.00198382	0	0
EFTUD2	9343	broad.mit.edu	37	17	42962668	42962668	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:42962668G>A	ENST00000426333.2	-	4	603	c.306C>T	c.(304-306)ttC>ttT	p.F102F	EFTUD2_ENST00000592576.1_Silent_p.F102F|EFTUD2_ENST00000402521.3_Silent_p.F67F|EFTUD2_ENST00000591382.1_Silent_p.F102F	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	102						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCATCAGAGTGAATTTCTTGG	0.383000													63	140					0	0	0.000781405	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100000181	100000181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:100000181G>A	ENST00000398027.2	-	16	1676	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.R357C|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.R357C	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	477							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACTCGCTTACGAATGGGCAAA	0.433000													96	430					0	0	0.000781405	0	0
COL6A3	1293	broad.mit.edu	37	2	238275834	238275834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:238275834C>T	ENST00000295550.4	-	11	5448	c.4996G>A	c.(4996-4998)Gtg>Atg	p.V1666M	COL6A3_ENST00000472056.1_Missense_Mutation_p.V1059M|COL6A3_ENST00000409809.1_Missense_Mutation_p.V1460M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1465M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1460M|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1466M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1666	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACTGTGTCCACTATTTCAGAC	0.463000													9	26					0	0	0.000673444	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762724	176762724	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:176762724C>T	ENST00000367662.3	+	20	6213	c.5049C>T	c.(5047-5049)atC>atT	p.I1683I		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTGTGTAATCCCCCCCAGTG	0.468000													41	31					0	0	0.000680045	0	0
LRFN3	79414	broad.mit.edu	37	19	36431365	36431365	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:36431365C>T	ENST00000588831.1	+	3	2092	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	LRFN3_ENST00000246529.3_Silent_p.F346F			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	346	Ig-like.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCGCGCCTTCCCCAATGGGA	0.692000													10	9					0	0	0.00136819	0	0
CCM2L	140706	broad.mit.edu	37	20	30617631	30617631	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:30617631C>T	ENST00000300415.8	+	9	1405	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	CCM2L_ENST00000262659.8_3'UTR|RP1-310O13.7_ENST00000449519.1_RNA					cerebral cavernous malformation 2-like																		GGCGCAAGTTCCTCCTCCTTG	0.622000													15	18					0	0	0.000308642	0	0
PRB3	5544	broad.mit.edu	37	12	11420704	11420704	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:11420704C>T	ENST00000381842.3	-	0	516				PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTCTGGCTTTCCCGGACGAGG	0.642000													63	43					0	0	0.000781405	0	0
EPX	8288	broad.mit.edu	37	17	56272453	56272453	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:56272453C>T	ENST00000225371.5	+	6	833	c.723C>T	c.(721-723)tcC>tcT	p.S241S		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	241					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCCCGGAGTCCCCGGCCAGAG	0.617000													23	45					0	0	0.000720815	0	0
LRP1B	53353	broad.mit.edu	37	2	141709478	141709478	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:141709478G>A	ENST00000389484.3	-	19	3890	c.2919C>T	c.(2917-2919)ttC>ttT	p.F973F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	973	LDL-receptor class A 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTGCATACGAATTGGGTTA	0.418000										TSP Lung(27;0.18)			22	40					0	0	0.00047179	0	0
DNAH5	1767	broad.mit.edu	37	5	13781030	13781030	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:13781030G>A	ENST00000265104.4	-	53	8963	c.8859C>T	c.(8857-8859)ctC>ctT	p.L2953L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2953	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCCGACCAGGAGGGCATTTC	0.458000									Kartagener syndrome				22	5					0	0	0.000720815	0	0
SMPD4	55627	broad.mit.edu	37	2	130911935	130911935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:130911935G>A	ENST00000409031.1	-	16	2839	c.1691C>T	c.(1690-1692)tCc>tTc	p.S564F	SMPD4_ENST00000351288.6_Missense_Mutation_p.S535F|SMPD4_ENST00000443958.2_Missense_Mutation_p.S228F|SMPD4_ENST00000339679.7_Missense_Mutation_p.S422F|SMPD4_ENST00000453750.1_Missense_Mutation_p.S313F|SMPD4_ENST00000431183.2_Missense_Mutation_p.S462F|SMPD4_ENST00000452225.2_Missense_Mutation_p.S305F|SMPD4_ENST00000426662.2_Missense_Mutation_p.S200F	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	525					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CACCTTGAAGGAGGCATCAGT	0.647000													9	12					0	0	0.000978159	0	0
EEFSEC	60678	broad.mit.edu	37	3	127980974	127980974	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:127980974C>T	ENST00000254730.6	+	3	582	c.528C>T	c.(526-528)ttC>ttT	p.F176F	EEFSEC_ENST00000483457.1_Silent_p.F176F	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	176						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						ATTTCAGGTTCCGAGGTGCAC	0.542000													63	95					0	0	0.000781405	0	0
FAT4	79633	broad.mit.edu	37	4	126402778	126402778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:126402778G>A	ENST00000394329.3	+	15	12714	c.12701G>A	c.(12700-12702)cGa>cAa	p.R4234Q	FAT4_ENST00000335110.5_Missense_Mutation_p.R2475Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4234	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAAAGCTTACGAGGTGCCATG	0.443000													23	35					0	0	0.000375601	0	0
ECT2L	345930	broad.mit.edu	37	6	139186242	139186242	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:139186242C>T	ENST00000423192.1	+	11	1562	c.1401C>T	c.(1399-1401)acC>acT	p.T467T	ECT2L_ENST00000367682.2_Silent_p.T467T|ECT2L_ENST00000541398.1_Silent_p.T398T|ECT2L_ENST00000495970.1_3'UTR			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	467					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TAGAAGAAACCTTGAAAACAG	0.483000			"""N, Splice, Mis"""		ETP ALL								31	7					0	0	0.00178596	0	0
OR4P4	81300	broad.mit.edu	37	11	55406571	55406571	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:55406571C>T	ENST00000314612.2	+	1	738	c.738C>T	c.(736-738)gtC>gtT	p.V246V		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTGTTGTGGTCCTGTTTTTTG	0.388000													47	75					0	0	0.000781405	0	0
GIGYF1	64599	broad.mit.edu	37	7	100283657	100283657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:100283657G>A	ENST00000275732.5	-	9	2203	c.994C>T	c.(994-996)Caa>Taa	p.Q332*	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	332										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCCAACCCTTGGAAGTCCAGC	0.687000													10	45					0	0	0.000219431	0	0
KALRN	8997	broad.mit.edu	37	3	124416491	124416491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:124416491C>T	ENST00000360013.3	+	55	7878	c.7751C>T	c.(7750-7752)tCc>tTc	p.S2584F	KALRN_ENST00000291478.4_Missense_Mutation_p.S887F|KALRN_ENST00000428018.2_Missense_Mutation_p.S855F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2583	Fibronectin type-III.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCTGCACCTCCGTGATTCTC	0.542000													7	12					0	0	0.000442599	0	0
NCOR1	9611	broad.mit.edu	37	17	16062165	16062165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:16062165G>A	ENST00000268712.3	-	6	898	c.641C>T	c.(640-642)gCt>gTt	p.A214V	NCOR1_ENST00000395851.1_Missense_Mutation_p.A214V|NCOR1_ENST00000395848.1_Missense_Mutation_p.A105V	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	214	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGGAGGTTTAGCTGCCTCTTC	0.483000													27	5					0	0	0.000878237	0	0
NPTX2	4885	broad.mit.edu	37	7	98249027	98249027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:98249027G>A	ENST00000265634.3	+	2	664	c.499G>A	c.(499-501)Ggg>Agg	p.G167R		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	167					synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCAGCGGCTGGGGGAGCTGGA	0.657000													40	74					0	0	0.00170553	0	0
OR2F1	26211	broad.mit.edu	37	7	143657981	143657981	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:143657981G>A	ENST00000392899.1	+	1	955	c.918G>A	c.(916-918)tgG>tgA	p.W306*		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W306C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AACTATTATGGAAATTCTCTG	0.433000													61	20					0	0	0.000781405	0	0
TIGD5	84948	broad.mit.edu	37	8	144681846	144681846	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:144681846C>T	ENST00000504548.2	+	1	1773	c.1773C>T	c.(1771-1773)gcC>gcT	p.A591A	TIGD5_ENST00000321385.3_Silent_p.A542A	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	591					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CCGGGGAGGCCGTGCGGGGGC	0.682000													18	12					0	0	0.00152264	0	0
SNRNP48	154007	broad.mit.edu	37	6	7595265	7595265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:7595265G>A	ENST00000342415.5	+	4	396	c.337G>A	c.(337-339)Gac>Aac	p.D113N		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	113					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GACAGATAAGGACTCACAATT	0.323000													9	58					0	0	0.000673444	0	0
MAP4K2	5871	broad.mit.edu	37	11	64568600	64568600	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:64568600G>A	ENST00000294066.2	-	8	604	c.513C>T	c.(511-513)ttC>ttT	p.F171F	MAP4K2_ENST00000377350.3_Silent_p.F171F|MAP4K2_ENST00000468062.1_5'UTR	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	171	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GAGTCCCAATGAAAGACCTCC	0.637000													29	16					0	0	0.00178596	0	0
PLXDC1	57125	broad.mit.edu	37	17	37234198	37234198	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:37234198G>A	ENST00000315392.4	-	11	1365	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F	PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.S345F|CTD-2206N4.4_ENST00000583447.1_RNA	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	385					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GAAGAGGGAGGAGGAGGTAGT	0.607000													43	5					0	0	0.000781405	0	0
EMILIN2	84034	broad.mit.edu	37	18	2892007	2892007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:2892007G>A	ENST00000254528.3	+	4	2041	c.1882G>A	c.(1882-1884)Gaa>Aaa	p.E628K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	628					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.E628K(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TCTTCAAAAGGAAATGAGCAA	0.438000													21	7					0	0	0.00106085	0	0
MIR1205	100302161	broad.mit.edu	37	8	128972912	128972912	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:128972912C>T	ENST00000408844.1	+	0	34					NR_031610.1																						TGAGGTACTTCCTTCCTGTCA	0.438000													20	62					0	0	0.00152264	0	0
ITGA4	3676	broad.mit.edu	37	2	182392056	182392056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:182392056C>T	ENST00000397033.2	+	22	2802	c.2372C>T	c.(2371-2373)tCa>tTa	p.S791L		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	791					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GTGTATGGATCAAATGATGAA	0.294000													21	24					0	0	0.000720815	0	0
SLC9B1	150159	broad.mit.edu	37	4	103866440	103866440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:103866440G>A	ENST00000296422.7	-	6	704	c.563C>T	c.(562-564)gCt>gTt	p.A188V	SLC9B1_ENST00000394789.3_Missense_Mutation_p.A188V	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	188						integral to membrane	solute:hydrogen antiporter activity										TGGACCTACAGCCAATCTGAA	0.383000													32	64					0	0	0.00128727	0	0
ABCC10	89845	broad.mit.edu	37	6	43412958	43412958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:43412958C>T	ENST00000244533.3	+	12	3211	c.2852C>T	c.(2851-2853)tCc>tTc	p.S951F	ABCC10_ENST00000372530.4_Missense_Mutation_p.S979F	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	979	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGTGTAAATTCCCTCTGCACC	0.587000													33	43					0	0	0.000814825	0	0
PLAUR	5329	broad.mit.edu	37	19	44160716	44160716	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:44160716C>A	ENST00000221264.4	-	4	813	c.387G>T	c.(385-387)agG>agT	p.R129S	PLAUR_ENST00000340093.3_Missense_Mutation_p.R129S|PLAUR_ENST00000601723.1_Missense_Mutation_p.R129S|PLAUR_ENST00000339082.3_Missense_Mutation_p.R129S	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	129	UPAR/Ly6 2.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	GGTGCCGGCCCCTCTCACAGC	0.602000													19	34					9.7654e-05	0.000464029	0.000958276	1	0
ACSS3	79611	broad.mit.edu	37	12	81472131	81472131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:81472131G>A	ENST00000548058.1	+	1	1142	c.232G>A	c.(232-234)Ggc>Agc	p.G78S	ACSS3_ENST00000261206.3_Missense_Mutation_p.G78S			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	78						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GAGGTTCTGGGGCAAAGCTGC	0.627000													13	27					0	0	0.00185496	0	0
IFNAR2	3455	broad.mit.edu	37	21	34635633	34635633	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:34635633C>A	ENST00000342136.4	+	9	1702	c.1376C>A	c.(1375-1377)cCa>cAa	p.P459Q	IFNAR2_ENST00000404220.3_3'UTR|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.P459Q			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	459					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	ATGGTTGACCCAGAGGATCCT	0.512000													9	300					3.86212e-05	0.000183823	0.000673444	1	0
ZNF785	146540	broad.mit.edu	37	16	30594027	30594027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:30594027G>A	ENST00000395216.2	-	3	1231	c.1072C>T	c.(1072-1074)Cat>Tat	p.H358Y	ZNF785_ENST00000470110.1_Missense_Mutation_p.H343Y|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						ATCCACCGATGGGCTTCCAGG	0.667000													62	32					0	0	0.000781405	0	0
CD163	9332	broad.mit.edu	37	12	7632488	7632488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:7632488C>T	ENST00000359156.4	-	16	3650	c.3448G>A	c.(3448-3450)Gaa>Aaa	p.E1150K	CD163_ENST00000541972.1_Silent_p.*1110*|CD163_ENST00000432237.2_Silent_p.*1122*|CD163_ENST00000396620.3_Silent_p.*1155*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1150					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			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						TTTTCCTTTTCAGTGTGGCTC	0.398000													34	23					0	0	0.000692331	0	0
C3	718	broad.mit.edu	37	19	6707815	6707815	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:6707815C>T	ENST00000245907.6	-	15	2063	c.1971G>A	c.(1969-1971)agG>agA	p.R657R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	657					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.R657S(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCTCACCTGCCCTCTGGGCGG	0.667000													56	37					0	0	0.000781405	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668500	176668500	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:176668500A>T	ENST00000367662.3	+	8	4175	c.3011A>T	c.(3010-3012)gAc>gTc	p.D1004V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1004					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTTTCTGTGACATCCCACTC	0.507000													37	104					0	0	0.000814825	0	0
JAG2	3714	broad.mit.edu	37	14	105615329	105615329	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:105615329C>T	ENST00000331782.3	-	14	2254	c.1851G>A	c.(1849-1851)ggG>ggA	p.G617G	JAG2_ENST00000347004.2_Silent_p.G579G	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	617	EGF-like 10; atypical.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AAAAGTTGCCCCCTGGCTGGC	0.662000													5	17					0	0	0.00116845	0	0
IL2RB	3560	broad.mit.edu	37	22	37532325	37532325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:37532325C>T	ENST00000216223.5	-	7	844	c.646G>A	c.(646-648)Gag>Aag	p.E216K		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	216	Fibronectin type-III.				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)	GTCGTGAACTCGCCTTGCAGA	0.627000													15	14					0	0	0.000219431	0	0
MRPS18A	55168	broad.mit.edu	37	6	43639616	43639616	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:43639616G>A	ENST00000372133.3	-	6	485	c.474C>T	c.(472-474)tcC>tcT	p.S158S	MRPS18A_ENST00000372116.1_3'UTR|RSPH9_ENST00000372163.4_3'UTR|RSPH9_ENST00000372165.4_3'UTR	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	mitochondrial ribosomal protein S18A	158					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			TGGGCTTGACGGAGCCAGGAG	0.612000													12	15					0	0	0.00136819	0	0
SPACA7	122258	broad.mit.edu	37	13	113030790	113030790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:113030790C>T	ENST00000283550.3	+	1	158	c.91C>T	c.(91-93)Cca>Tca	p.P31S		NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	31						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						AACCGTGATTCCAGGTAGGGC	0.587000													8	8					0	0	0.000274275	0	0
LAMB1	3912	broad.mit.edu	37	7	107601006	107601006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:107601006G>A	ENST00000393561.1	-	16	2454	c.2270C>T	c.(2269-2271)aCc>aTc	p.T757I	LAMB1_ENST00000393560.1_Missense_Mutation_p.T733I|LAMB1_ENST00000222399.6_Missense_Mutation_p.T733I			P07942	LAMB1_HUMAN	laminin, beta 1	733	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTCTGAAAGGTTTCCCAGGC	0.458000													35	88					0	0	0.000814825	0	0
IL31RA	133396	broad.mit.edu	37	5	55212752	55212752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:55212752C>T	ENST00000447346.2	+	15	2164	c.2099C>T	c.(2098-2100)tCc>tTc	p.S700F	IL31RA_ENST00000490985.1_Missense_Mutation_p.S558F|IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000359040.5_Intron	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	668					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CCCAGAAAATCCCAATACCTA	0.512000													41	60					0	0	0.00148497	0	0
IPO7	10527	broad.mit.edu	37	11	9459706	9459706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:9459706G>A	ENST00000379719.3	+	22	2711	c.2569G>A	c.(2569-2571)Gtt>Att	p.V857I		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	857					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTTAAATCAGGTTTCTGGACA	0.363000													67	73					0	0	0.000781405	0	0
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.V1703A(5)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527000													4	72					0	0	0.000602214	0	0
COL5A2	1290	broad.mit.edu	37	2	189931166	189931166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:189931166G>A	ENST00000374866.3	-	23	1787	c.1513C>T	c.(1513-1515)Ccc>Tcc	p.P505S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	505					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCACCTCTGGGACCTCTTTTG	0.483000													120	112					0	0	0.000781405	0	0
HEXA	3073	broad.mit.edu	37	15	72643516	72643516	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:72643516G>A	ENST00000268097.5	-	6	1133	c.630C>T	c.(628-630)tcC>tcT	p.S210S	RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000457859.2_Silent_p.S18S|HEXA_ENST00000566304.1_Silent_p.S221S|HEXA_ENST00000429918.2_Silent_p.S37S|HEXA_ENST00000567159.1_Silent_p.S210S|RP11-106M3.2_ENST00000379915.4_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	210			S -> F (in GM2G1; infantile).		cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CATATGGGAAGGAAGGATCAT	0.453000													32	38					0	0	0.00058488	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142264942	142264942	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:142264942A>T	ENST00000378004.3	+	5	819	c.464A>T	c.(463-465)aAg>aTg	p.K155M	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.K155M	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	155					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTTCCAAAAAGAAAGAATCT	0.358000													18	42					0	0	0.00121646	0	0
NLRP7	199713	broad.mit.edu	37	19	55451413	55451413	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:55451413C>T	ENST00000446217.1	-	6	1260	c.858G>A	c.(856-858)ctG>ctA	p.L286L	NLRP7_ENST00000328092.5_Silent_p.L258L|NLRP7_ENST00000448121.2_Silent_p.L258L|NLRP7_ENST00000592784.1_Silent_p.L258L|NLRP7_ENST00000590030.1_Silent_p.L258L|NLRP7_ENST00000588756.1_Silent_p.L258L|NLRP7_ENST00000340844.2_Silent_p.L258L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	258	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTGGGACTTTCAGCTCATCAA	0.557000													25	143					0	0	0.000586117	0	0
UNC79	57578	broad.mit.edu	37	14	94152932	94152932	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:94152932G>A	ENST00000553484.1	+	45	7171	c.7017G>A	c.(7015-7017)gcG>gcA	p.A2339A	UNC79_ENST00000555664.1_Silent_p.A2278A|UNC79_ENST00000256339.4_Silent_p.A2140A|UNC79_ENST00000393151.2_Silent_p.A2317A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2317						integral to membrane		p.A2339A(1)|p.A2140A(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGACTGCAGCGATGGAGTGTG	0.507000													15	34					0	0	0.000422831	0	0
NBEA	26960	broad.mit.edu	37	13	35619500	35619500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:35619500C>T	ENST00000540320.1	+	4	1219	c.685C>T	c.(685-687)Cct>Tct	p.P229S	NBEA_ENST00000400445.3_Missense_Mutation_p.P229S|NBEA_ENST00000310336.4_Missense_Mutation_p.P229S|NBEA_ENST00000379939.2_Missense_Mutation_p.P229S			Q8NFP9	NBEA_HUMAN	neurobeachin	229						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAGACACGGTCCTGATACTTT	0.333000													18	11					0	0	0.00188189	0	0
SGK223	157285	broad.mit.edu	37	8	8176519	8176519	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:8176519G>A	ENST00000520004.1	-	6	3630	c.3366C>T	c.(3364-3366)ttC>ttT	p.F1122F	SGK223_ENST00000330777.4_Silent_p.F1122F			Q86YV5	SG223_HUMAN		1122	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										GCAGAAGCAGGAAGCACACGC	0.672000													78	62					0	0	0.000781405	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033498	95033498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:95033498C>T	ENST00000557004.1	+	3	1262	c.841C>T	c.(841-843)Cct>Tct	p.P281S	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.P281S|SERPINA4_ENST00000555095.1_Missense_Mutation_p.P281S			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	281					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TTTCATTCTCCCTAACCAAGG	0.483000													18	27					0	0	0.000958276	0	0
C5orf38	153571	broad.mit.edu	37	5	2755284	2755284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:2755284G>A	ENST00000397835.4	+	3	475	c.475G>A	c.(475-477)Ggg>Agg	p.G159R	C5orf38_ENST00000334000.3_3'UTR			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	45						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GAGAAggccggggcgctcgcc	0.791000													8	9					0	0	0.000157383	0	0
SPTA1	6708	broad.mit.edu	37	1	158641235	158641235	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:158641235C>T	ENST00000368148.3	-	12	1677	c.1497G>A	c.(1495-1497)ctG>ctA	p.L499L	SPTA1_ENST00000368147.3_Silent_p.L499L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	499					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTCGTTTTCCAGGAAGGCCT	0.488000													11	26					0	0	0.000219431	0	0
SCN4A	6329	broad.mit.edu	37	17	62018802	62018802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:62018802C>T	ENST00000435607.1	-	24	4916	c.4840G>A	c.(4840-4842)Gaa>Aaa	p.E1614K	SCN4A_ENST00000578147.1_Missense_Mutation_p.E1614K	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1614					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AAGTCATCTTCACCAAGGGGC	0.532000													29	21					0	0	0.00106085	0	0
IQSEC1	9922	broad.mit.edu	37	3	12977612	12977612	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:12977612G>A	ENST00000273221.4	-	3	1162	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	316					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGAGGGGCAGAGGGGGCGAC	0.677000													48	35					0	0	0.000781405	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764907	77764907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:77764907G>A	ENST00000521891.2	+	10	6198	c.5750G>A	c.(5749-5751)gGt>gAt	p.G1917D	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G1872D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G1891D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G1872D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1872						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAAACTTTGGTTTTGAACTG	0.448000										HNSCC(33;0.089)			15	16					0	0	0.000219431	0	0
LRRC43	254050	broad.mit.edu	37	12	122669284	122669284	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:122669284C>T	ENST00000339777.4	+	2	397	c.369C>T	c.(367-369)ttC>ttT	p.F123F	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	123										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CAGACACCTTCTTCTACTCCT	0.572000													6	12					0	0	0.00116845	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65715116	65715116	+	RNA	SNP	A	A	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:65715116A>T	ENST00000532620.1	+	0	1051							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						TTGTCAGAGAAAGGGGCAGAT	0.597000													15	9					0	0	0.000308642	0	0
TMEM131	23505	broad.mit.edu	37	2	98409346	98409346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:98409346G>A	ENST00000186436.5	-	31	3875	c.3647C>T	c.(3646-3648)cCa>cTa	p.P1216L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1216						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GTGGACCGATGGGCCACACTG	0.542000													12	21					0	0	0.000978159	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027470	55027470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:55027470G>A	ENST00000324000.3	+	4	3139	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	369					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AATGCATGGGGAAGGGCTCAC	0.473000													12	24					0	0	0.000219431	0	0
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	RNA	SNP	C	C	G	rs56290535	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:78208916C>G	ENST00000565869.1	+	0	53																											TCCAGATGTTCTCCTCCATCT	0.627000													4	82					0	0	0.000602214	0	0
TAP2	6891	broad.mit.edu	37	6	32805777	32805777	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:32805777G>A	ENST00000374897.2	-	2	365	c.234C>T	c.(232-234)tcC>tcT	p.S78S	TAP2_ENST00000452392.2_Silent_p.S78S|TAP2_ENST00000374899.4_Silent_p.S78S	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	78					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										GGGCTCTCAGGGAGACAGTCA	0.687000													22	32					0	0	0.00047179	0	0
NLRP3	114548	broad.mit.edu	37	1	247597405	247597405	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:247597405G>A	ENST00000366497.2	+	6	3108	c.2327_splice	c.e6-1	p.W776_splice	NLRP3_ENST00000336119.3_Splice_Site_p.W776_splice|NLRP3_ENST00000348069.2_Splice_Site_p.G719_splice|NLRP3_ENST00000391827.2_Splice_Site_p.G719_splice|NLRP3_ENST00000391828.3_Splice_Site_p.W776_splice|NLRP3_ENST00000366496.2_Splice_Site_p.W776_splice	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	833					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGGCATGAAGGTTGGGGCGCT	0.572000													113	55					0	0	0.000781405	0	0
DNASE2	1777	broad.mit.edu	37	19	12989369	12989369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:12989369G>A	ENST00000222219.3	-	5	628	c.536C>T	c.(535-537)cCc>cTc	p.P179L	DNASE2_ENST00000538460.1_Missense_Mutation_p.P124L	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	179					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						ATAGACCCAGGGGTAGGTGTA	0.547000													17	15					0	0	0.00152264	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29974628	29974628	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:29974628G>A	ENST00000376797.3	-	0	1346				ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							CCGGGCCGCGGGGAGCCCAGC	0.701000													3	8					0	0	0.00024832	0	0
C10orf90	118611	broad.mit.edu	37	10	128114454	128114454	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:128114454G>A	ENST00000284694.7	-	9	2199	c.2079C>T	c.(2077-2079)ctC>ctT	p.L693L	C10orf90_ENST00000356858.3_3'UTR|C10orf90_ENST00000480379.1_Silent_p.L97L|C10orf90_ENST00000544758.1_Silent_p.L790L|C10orf90_ENST00000454341.1_Silent_p.L596L	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	693										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TCCTTTGAAGGAGCTGGTCCA	0.502000													17	2					0	0	0.000958276	0	0
ZNF14	7561	broad.mit.edu	37	19	19823621	19823621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:19823621G>A	ENST00000344099.3	-	4	607	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCATGTTTGCGAAAGCAGTGG	0.393000													17	42					0	0	0.000958276	0	0
KCNA5	3741	broad.mit.edu	37	12	5155065	5155065	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:5155065G>A	ENST00000252321.3	+	1	1981	c.1752G>A	c.(1750-1752)gaG>gaA	p.E584E		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	584						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GCCCCCTAGAGAAGTGTAACG	0.597000													23	23					0	0	0.00047179	0	0
MYT1L	23040	broad.mit.edu	37	2	1906908	1906908	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:1906908C>T	ENST00000399161.2	-	14	2723	c.1976G>A	c.(1975-1977)cGa>cAa	p.R659Q	MYT1L_ENST00000428368.2_Missense_Mutation_p.R657Q	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	659					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGCTATGGCTCGCTTGCCATA	0.488000													48	39					0	0	0.000781405	0	0
ZFHX3	463	broad.mit.edu	37	16	72828002	72828002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:72828002C>T	ENST00000268489.5	-	9	9251	c.8579G>A	c.(8578-8580)gGa>gAa	p.G2860E	ZFHX3_ENST00000397992.5_Missense_Mutation_p.G1946E	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2860					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGTTGCTATTCCCGTTGCACT	0.488000													38	96					0	0	0.00170553	0	0
HOXB8	3218	broad.mit.edu	37	17	46690746	46690746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:46690746C>T	ENST00000239144.4	-	2	784	c.550G>A	c.(550-552)Gga>Aga	p.G184R	HOXB8_ENST00000576562.1_Missense_Mutation_p.G183R|HOXB7_ENST00000567101.1_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	184						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						TCTGTCAGTCCCAGGGCGTGC	0.512000													28	62					0	0	0.0024448	0	0
BACE1	23621	broad.mit.edu	37	11	117166040	117166040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:117166040C>T	ENST00000313005.6	-	3	834	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	BACE1_ENST00000392937.6_Missense_Mutation_p.R25Q|BACE1_ENST00000510630.1_Missense_Mutation_p.R25Q|BACE1_ENST00000445823.2_Missense_Mutation_p.R125Q|BACE1_ENST00000428381.2_Missense_Mutation_p.R125Q|BACE1_ENST00000528053.1_Missense_Mutation_p.R125Q|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000513780.1_Missense_Mutation_p.R125Q	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	125					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CACACCCTTCCGGAGGTCCCG	0.557000													23	4					0	0	0.000586117	0	0
OPLAH	26873	broad.mit.edu	37	8	145109474	145109474	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:145109474G>A	ENST00000426825.1	-	19	2757	c.2676C>T	c.(2674-2676)ttC>ttT	p.F892F	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	892							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CCTCCTCCTGGAAGACGCCCC	0.647000													14	18					0	0	0.000219431	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074292	106074292	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:106074292G>A	ENST00000278071.2	-	3	1970	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	ITPRIP_ENST00000337478.1_Silent_p.F506F|ITPRIP_ENST00000358187.2_Silent_p.F506F	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	506						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCTGCAGGACGAAGGGCCGGA	0.587000													37	9					0	0	0.00148497	0	0
TMC5	79838	broad.mit.edu	37	16	19451763	19451763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:19451763C>T	ENST00000396229.2	+	3	1152	c.403C>T	c.(403-405)Cct>Tct	p.P135S	TMC5_ENST00000542583.2_Missense_Mutation_p.P135S|TMC5_ENST00000381414.4_Missense_Mutation_p.P135S|TMC5_ENST00000541464.1_Missense_Mutation_p.P135S	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	135						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCAACGAAATCCTGATTTTGC	0.498000													128	80					0	0	0.000781405	0	0
RIMS2	9699	broad.mit.edu	37	8	105261730	105261730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:105261730G>A	ENST00000507740.1	+	20	3283	c.3047G>A	c.(3046-3048)gGa>gAa	p.G1016E	RIMS2_ENST00000436393.2_Missense_Mutation_p.G1220E|RIMS2_ENST00000406091.3_Missense_Mutation_p.G1202E|RIMS2_ENST00000262231.10_Missense_Mutation_p.G1041E|RIMS2_ENST00000339750.2_Missense_Mutation_p.G138E	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1264					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATTCAGGTAGGAATGATGGAC	0.418000										HNSCC(12;0.0054)			34	64					0	0	0.00058488	0	0
LIG1	3978	broad.mit.edu	37	19	48640929	48640929	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:48640929G>A	ENST00000263274.7	-	13	1523	c.1104C>T	c.(1102-1104)tcC>tcT	p.S368S	LIG1_ENST00000536218.1_Silent_p.S300S|LIG1_ENST00000427526.2_Silent_p.S337S	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	368					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CAGCCCGGACGGACTCCAGCT	0.662000								Nucleotide excision repair (NER)					4	15					0	0	0.00116845	0	0
JADE1	79960	broad.mit.edu	37	4	129783278	129783278	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:129783278C>T	ENST00000226319.6	+	9	1681	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	PHF17_ENST00000511647.1_Silent_p.I467I|PHF17_ENST00000512960.1_Silent_p.I467I|PHF17_ENST00000413543.2_Silent_p.I467I|PHF17_ENST00000452328.2_Silent_p.I455I	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		467					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGCCCCTGATCACCCCAAAGA	0.532000													29	33					0	0	0.00127121	0	0
CDCP2	200008	broad.mit.edu	37	1	54618546	54618546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:54618546C>T	ENST00000371330.1	-	1	897	c.50G>A	c.(49-51)gGc>gAc	p.G17D	RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_Intron	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	17						extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GAGCCCTGGGCCCAGCAGTGC	0.652000													61	46					0	0	0.000781405	0	0
DUXA	503835	broad.mit.edu	37	19	57665801	57665801	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:57665801G>A	ENST00000554048.2	-	6	593	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	198						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TGGCTCCAGAGAAATGAGAGT	0.418000													16	47					0	0	0.00074312	0	0
BRD8	10902	broad.mit.edu	37	5	137481567	137481567	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:137481567C>T	ENST00000254900.5	-	24	3650	c.3278_splice	c.e24-1	p.L1093_splice		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1093					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTAGATCAGTCCTATGAGGAT	0.418000													41	33					0	0	0.00195071	0	0
SCD5	79966	broad.mit.edu	37	4	83602042	83602042	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:83602042C>T	ENST00000319540.4	-	3	706	c.387G>A	c.(385-387)agG>agA	p.R129R	SCD5_ENST00000273908.4_Silent_p.R129R	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	129					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CTCGGTGGTCCCTGGACCACT	0.587000													35	44					0	0	0.000814825	0	0
RAB8A	4218	broad.mit.edu	37	19	16238862	16238862	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:16238862C>T	ENST00000300935.3	+	6	714	c.441C>T	c.(439-441)ttC>ttT	p.F147F	CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Silent_p.F147F	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	147					cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						GAATCAAGTTCATGGAGACCA	0.597000													14	37					0	0	0.000308642	0	0
FMO3	2328	broad.mit.edu	37	1	171073016	171073016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:171073016C>T	ENST00000367755.4	+	3	334	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	FMO3_ENST00000392085.2_Missense_Mutation_p.P75S|FMO3_ENST00000538429.1_Intron|FMO3_ENST00000542847.1_Missense_Mutation_p.P55S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	75					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTCCCATTTCCCGATGACTT	0.423000													20	52					0	0	0.00188189	0	0
DDHD1	80821	broad.mit.edu	37	14	53521309	53521309	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:53521309A>G	ENST00000357758.3	-	11	2467	c.2284T>C	c.(2284-2286)Ttc>Ctc	p.F762L	DDHD1_ENST00000323669.5_Missense_Mutation_p.F762L|DDHD1_ENST00000395606.1_Missense_Mutation_p.F769L	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	762	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					AATCTTGAGAACAACATTCCT	0.443000													35	24					0	0	0.00111076	0	0
KIAA1147	57189	broad.mit.edu	37	7	141385329	141385329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141385329G>A	ENST00000536163.1	-	3	475	c.476C>T	c.(475-477)cCc>cTc	p.P159L	KIAA1147_ENST00000482493.1_Missense_Mutation_p.P68L	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	159										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					TGTGTAGGAGGGAGAGAGGAT	0.602000													23	145					0	0	0.000878237	0	0
CT62	196993	broad.mit.edu	37	15	71403623	71403623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:71403623C>T	ENST00000449977.2	-	4	784	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	RP11-673C5.4_ENST00000564862.1_RNA|CT62_ENST00000566432.1_3'UTR|THSD4_ENST00000355327.3_Intron	NM_001102658.1	NP_001096128.1	P0C5K7	CT62_HUMAN	cancer/testis antigen 62	93										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						CTTGACATTCCGTCTGGAAAC	0.493000													24	30					0	0	0.000586117	0	0
CYFIP2	26999	broad.mit.edu	37	5	156817610	156817610	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:156817610C>T	ENST00000347377.6	+	30	3959	c.3528C>T	c.(3526-3528)ttC>ttT	p.F1176F	CYFIP2_ENST00000521420.1_Silent_p.F1150F|CYFIP2_ENST00000435847.2_Silent_p.F875F|CYFIP2_ENST00000522463.1_Silent_p.F980F|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000541131.1_Silent_p.F1101F|CYFIP2_ENST00000377576.3_Silent_p.F1176F|CYFIP2_ENST00000318218.6_Silent_p.F1201F	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1201					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGACCTGTTCGACTTCTGTT	0.567000													109	220					0	0	0.000781405	0	0
FAM129C	199786	broad.mit.edu	37	19	17654161	17654161	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:17654161G>A	ENST00000335393.4	+	12	1596	c.1458G>A	c.(1456-1458)ctG>ctA	p.L486L	FAM129C_ENST00000599164.1_Silent_p.L455L|FAM129C_ENST00000601861.1_Silent_p.L455L|FAM129C_ENST00000600871.1_Silent_p.L432L|FAM129C_ENST00000300971.2_Silent_p.L486L|FAM129C_ENST00000332386.5_Silent_p.L486L|FAM129C_ENST00000599124.1_Silent_p.L455L|FAM129C_ENST00000352727.3_Silent_p.L486L|FAM129C_ENST00000595684.1_Silent_p.L486L|FAM129C_ENST00000449408.2_Silent_p.L212L	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	486										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TCCTGCAGCTGGCTGACCAGT	0.642000													32	71					0	0	0.0024448	0	0
OR5B12	390191	broad.mit.edu	37	11	58206865	58206865	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:58206865T>A	ENST00000302572.2	-	1	781	c.760A>T	c.(760-762)Atc>Ttc	p.I254F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TACATAAAGATTCCTGTCCCA	0.453000													27	15					0	0	0.001512	0	0
SRRM4	84530	broad.mit.edu	37	12	119540140	119540140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:119540140G>A	ENST00000267260.4	+	2	619	c.231G>A	c.(229-231)tgG>tgA	p.W77*	RP11-364C11.2_ENST00000537730.1_RNA	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	77					cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCAACAGTTGGGAGAGAGACA	0.552000													11	10					0	0	0.000673444	0	0
PABPC1	26986	broad.mit.edu	37	8	101733795	101733795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:101733795G>A	ENST00000318607.5	-	1	1145	c.17C>T	c.(16-18)cCc>cTc	p.P6L	PABPC1_ENST00000519004.1_Intron|PABPC1_ENST00000522387.1_Missense_Mutation_p.P6L	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	6					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GGGGTAGCTGGGGGCACTGGG	0.711000													19	11					0	0	0.00188189	0	0
F8	2157	broad.mit.edu	37	X	154182201	154182201	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:154182201C>T	ENST00000360256.4	-	12	2069	c.1869G>A	c.(1867-1869)gaG>gaA	p.E623E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	623	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ACTCTGGATCCTCAAGCTGCA	0.438000													82	9					0	0	0.000781405	0	0
TPK1	27010	broad.mit.edu	37	7	144364881	144364881	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:144364881C>T	ENST00000538212.2	-	3	178	c.108G>A	c.(106-108)ccG>ccA	p.P36P	TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000360057.3_Intron			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	0					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	gggtgtctttcggtgtcctga	0.468000													69	32					0	0	0.000781405	0	0
VOPP1	81552	broad.mit.edu	37	7	55560112	55560112	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:55560112C>T	ENST00000285279.5	-	4	392		c.e4-1		VOPP1_ENST00000545390.1_Splice_Site|VOPP1_ENST00000453256.1_Splice_Site|VOPP1_ENST00000427700.1_Splice_Site|VOPP1_ENST00000433959.1_Splice_Site|VOPP1_ENST00000454227.1_Splice_Site|VOPP1_ENST00000428097.1_Splice_Site|VOPP1_ENST00000428648.1_Splice_Site|VOPP1_ENST00000418904.1_Splice_Site	NM_030796.3	NP_110423.3	Q96AW1	VOPP1_HUMAN	vesicular, overexpressed in cancer, prosurvival protein 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						CAGAAGGAACCTGAGGAGAGT	0.637000													6	14					0	0	0.00116845	0	0
NAV3	89795	broad.mit.edu	37	12	78573391	78573391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:78573391G>A	ENST00000397909.2	+	29	5619	c.5446G>A	c.(5446-5448)Gat>Aat	p.D1816N	NAV3_ENST00000536525.2_Missense_Mutation_p.D1794N|NAV3_ENST00000228327.6_Missense_Mutation_p.D1794N|NAV3_ENST00000266692.7_Missense_Mutation_p.D1617N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1816						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.D1794Y(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAATTAACGGATATTCGGCT	0.463000										HNSCC(70;0.22)			31	60					0	0	0.00127121	0	0
ADAM32	203102	broad.mit.edu	37	8	39080710	39080710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:39080710G>A	ENST00000379907.4	+	14	1605	c.1478G>A	c.(1477-1479)gGa>gAa	p.G493E	ADAM32_ENST00000437682.2_Missense_Mutation_p.G394E|ADAM32_ENST00000519315.1_Missense_Mutation_p.G387E	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	493	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGTTATGACGGAGACTGCCAT	0.343000													10	11					0	0	0.000978159	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634988	70634988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:70634988G>A	ENST00000381269.2	-	2	905	c.152C>T	c.(151-153)tCa>tTa	p.S51L	SLC8A3_ENST00000528359.1_Missense_Mutation_p.S51L|SLC8A3_ENST00000357887.3_Missense_Mutation_p.S51L|SLC8A3_ENST00000356921.2_Missense_Mutation_p.S51L|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S51L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	51					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)		GCAGTCCGATGACCCTGAACA	0.557000													24	14					0	0	0.000720815	0	0
FAM46D	169966	broad.mit.edu	37	X	79698131	79698131	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:79698131G>A	ENST00000538312.1	+	5	427	c.93G>A	c.(91-93)ggG>ggA	p.G31G	FAM46D_ENST00000308293.5_Silent_p.G31G	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	31										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						ATGGAAAGGGGAATTTCCCCA	0.368000													21	3					0	0	0.00121646	0	0
PLXNA4	91584	broad.mit.edu	37	7	131817886	131817886	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:131817886G>A	ENST00000359827.3	-	31	6473	c.5511C>T	c.(5509-5511)tcC>tcT	p.S1837S	PLXNA4_ENST00000321063.4_Silent_p.S1837S			Q9HCM2	PLXA4_HUMAN	plexin A4	1837						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTGCATCCGGGACTGCTCAG	0.517000													26	92					0	0	0.000720815	0	0
SLC13A1	6561	broad.mit.edu	37	7	122787360	122787360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:122787360G>A	ENST00000194130.2	-	7	704	c.665C>T	c.(664-666)tCa>tTa	p.S222L	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	222						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TCTCATGCCTGAGTTCTGTTC	0.418000													10	21					0	0	0.00136819	0	0
DDX39B	7919	broad.mit.edu	37	6	31503225	31503225	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:31503225G>A	ENST00000417556.2	-	7	1329	c.699C>T	c.(697-699)acC>acT	p.T233T	DDX39B_ENST00000376177.2_Silent_p.T218T|DDX39B_ENST00000458640.1_Silent_p.T218T|DDX39B_ENST00000396172.1_Silent_p.T218T|DDX39B_ENST00000415382.2_Silent_p.T140T|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000453105.2_Silent_p.T171T			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	218	Helicase ATP-binding.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCTCGTGGGGGGTCATGCGAA	0.433000													58	67					0	0	0.000781405	0	0
ADAM18	8749	broad.mit.edu	37	8	39466628	39466628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:39466628C>T	ENST00000265707.5	+	4	301	c.256C>T	c.(256-258)Cca>Tca	p.P86S	ADAM18_ENST00000379866.1_Missense_Mutation_p.P86S|ADAM18_ENST00000520772.1_Missense_Mutation_p.P86S|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	86					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)			TTCTGTGTCTCCATATTTTAT	0.259000													14	35					0	0	0.000219431	0	0
NR6A1	2649	broad.mit.edu	37	9	127298251	127298251	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:127298251G>A	ENST00000487099.2	-	7	1142	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	NR6A1_ENST00000344523.4_Silent_p.L328L|NR6A1_ENST00000416460.2_Silent_p.L324L|NR6A1_ENST00000373584.3_Silent_p.L325L	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	329					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GAAGACAGCAGGATTAGCTCC	0.512000													44	7					0	0	0.00222228	0	0
NLRP9	338321	broad.mit.edu	37	19	56223323	56223323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:56223323G>A	ENST00000332836.2	-	8	2713	c.2686C>T	c.(2686-2688)Ccg>Tcg	p.P896S		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	896						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CGGGTGATCGGACACGTTTGC	0.547000													38	15					0	0	0.00195071	0	0
FGD6	55785	broad.mit.edu	37	12	95603750	95603750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:95603750G>A	ENST00000343958.4	-	2	1533	c.1310C>T	c.(1309-1311)tCg>tTg	p.S437L	FGD6_ENST00000546711.1_Missense_Mutation_p.S437L|FGD6_ENST00000549499.1_Missense_Mutation_p.S437L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	437					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CACAGCAAGCGACATACTAGA	0.393000													29	76					0	0	0.000878237	0	0
RBM10	8241	broad.mit.edu	37	X	47039676	47039676	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:47039676C>T	ENST00000377604.3	+	11	1870	c.1128C>T	c.(1126-1128)acC>acT	p.T376T	RBM10_ENST00000345781.6_Silent_p.T299T|RBM10_ENST00000329236.7_Silent_p.T298T|RBM10_ENST00000468791.1_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	376	RRM 2.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA 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						ACGGCAAGACCATCAATGTTG	0.632000													9	0					0	0	0.000442599	0	0
SCML2	10389	broad.mit.edu	37	X	18276309	18276309	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:18276309G>A	ENST00000251900.4	-	10	1287	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	SCML2_ENST00000398048.3_Silent_p.I112I	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	376					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GCAGCTGCTGGATTCTCTTGG	0.483000													52	5					0	0	0.000781405	0	0
BMP1	649	broad.mit.edu	37	8	22033822	22033822	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:22033822C>T	ENST00000306385.5	+	3	1099	c.429C>T	c.(427-429)ttC>ttT	p.F143F	BMP1_ENST00000523849.1_3'UTR|BMP1_ENST00000306349.8_Silent_p.F143F|BMP1_ENST00000354870.5_Silent_p.F143F|BMP1_ENST00000397814.3_Silent_p.F143F|BMP1_ENST00000397816.3_Silent_p.F143F	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	143	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGGGAAACTTCACTGGTGAGC	0.652000													12	33					0	0	0.00185496	0	0
MIB2	142678	broad.mit.edu	37	1	1563922	1563922	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:1563922C>T	ENST00000357210.4	+	16	2412	c.2196C>T	c.(2194-2196)ctC>ctT	p.L732L	MIB2_ENST00000360522.4_Silent_p.L697L|MIB2_ENST00000505820.2_Silent_p.L789L|MIB2_ENST00000518681.1_Silent_p.L724L|MIB2_ENST00000355826.5_Silent_p.L775L|MIB2_ENST00000520777.1_Silent_p.L785L|MIB2_ENST00000504599.1_Silent_p.L688L|MIB2_ENST00000378712.1_Silent_p.L609L|MIB2_ENST00000378708.1_Silent_p.L638L|MIB2_ENST00000378710.3_Silent_p.L696L	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	732					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGCTGCATCTCGCCGTGCAAC	0.706000													15	5					0	0	0.00074312	0	0
GABRG3	2567	broad.mit.edu	37	15	27572008	27572008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:27572008G>A	ENST00000333743.6	+	4	577	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	GABRG3_ENST00000555083.1_Missense_Mutation_p.R108Q	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	108					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AGTCGCCTTCGATTCAACAGC	0.418000													93	102					0	0	0.000781405	0	0
CYP2E1	1571	broad.mit.edu	37	10	135350625	135350625	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:135350625G>A	ENST00000463117.2	+	9	1298	c.1026G>A	c.(1024-1026)aaG>aaA	p.K342K	CYP2E1_ENST00000252945.3_Silent_p.K342K|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	342					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CTGCCATCAAGGATAGGCAAG	0.517000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				35	47					0	0	0.000953801	0	0
B3GAT3	26229	broad.mit.edu	37	11	62389381	62389381	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:62389381G>A	ENST00000531383.1	-	1	245	c.39C>T	c.(37-39)ttC>ttT	p.F13F	B3GAT3_ENST00000534026.1_Silent_p.F13F|B3GAT3_ENST00000265471.5_Silent_p.F13F			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	13					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						TCGACACCAGGAAGTAGGCGA	0.751000													35	26					0	0	0.000589545	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6438691	6438691	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:6438691G>A	ENST00000162749.2	-	10	1454	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	TNFRSF1A_ENST00000540022.1_Silent_p.I342I	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	385	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CCAGCCGATCGATCTCGTGGT	0.701000													11	9					0	0	0.000219431	0	0
TMEM104	54868	broad.mit.edu	37	17	72791704	72791704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:72791704C>T	ENST00000335464.5	+	8	731	c.569C>T	c.(568-570)aCc>aTc	p.T190I	TMEM104_ENST00000417024.2_Missense_Mutation_p.T203I|TMEM104_ENST00000582773.1_Missense_Mutation_p.T190I|TMEM104_ENST00000582330.1_Missense_Mutation_p.T190I	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	190						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GAAGCAGACACCAAATACAAT	0.637000													7	28					0	0	0.000274275	0	0
ANK2	287	broad.mit.edu	37	4	114275446	114275446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:114275446C>T	ENST00000357077.4	+	38	5725	c.5672C>T	c.(5671-5673)tCt>tTt	p.S1891F	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S1858F|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1858	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAAGGCACTCTCCTGTGTCA	0.473000													45	48					0	0	0.000680045	0	0
MAP2	4133	broad.mit.edu	37	2	210595033	210595033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:210595033C>T	ENST00000360351.4	+	15	5902	c.5396C>T	c.(5395-5397)tCg>tTg	p.S1799L	MAP2_ENST00000199940.6_Missense_Mutation_p.S531L|MAP2_ENST00000447185.1_Missense_Mutation_p.S1795L|MAP2_ENST00000361559.4_Missense_Mutation_p.S443L|MAP2_ENST00000392194.1_Missense_Mutation_p.S443L	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1799					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AATGTCTCCTCGTCTGGAAGC	0.542000													20	25					0	0	0.00188189	0	0
SIN3A	25942	broad.mit.edu	37	15	75692436	75692436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:75692436G>A	ENST00000394947.3	-	12	2113	c.1799C>T	c.(1798-1800)tCc>tTc	p.S600F	SIN3A_ENST00000360439.4_Missense_Mutation_p.S600F|SIN3A_ENST00000394949.4_Missense_Mutation_p.S600F	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	600	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AGTCTTCTTGGAACTCACAAA	0.413000													48	31					0	0	0.000680045	0	0
TBX2	6909	broad.mit.edu	37	17	59485548	59485548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:59485548C>T	ENST00000240328.3	+	7	2101	c.1820C>T	c.(1819-1821)tCc>tTc	p.S607F	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	607					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						gGCTCCCTCTCCCGGAGCCCC	0.706000													8	18					0	0	0.000442599	0	0
PABPC3	5042	broad.mit.edu	37	13	25670872	25670872	+	Missense_Mutation	SNP	G	G	A	rs139042913	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:25670872G>A	ENST00000281589.3	+	1	573	c.536G>A	c.(535-537)cGa>cAa	p.R179Q		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	179					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CGTAAAGAACGAGAAGCTGAA	0.413000													8	36					0	0	0.000274275	0	0
KCNQ4	9132	broad.mit.edu	37	1	41300637	41300637	+	Splice_Site	SNP	A	A	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:41300637A>C	ENST00000347132.5	+	12	1695		c.e12-1		KCNQ4_ENST00000509682.2_Splice_Site|KCNQ4_ENST00000506017.1_Splice_Site	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4						sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CTCCCCCAACAGGATTCTCAA	0.557000													51	26					0	0	0.000781405	0	0
DROSHA	29102	broad.mit.edu	37	5	31422952	31422952	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:31422952C>A	ENST00000511367.2	-	28	3605	c.3361G>T	c.(3361-3363)Gtt>Ttt	p.V1121F	DROSHA_ENST00000344624.3_Missense_Mutation_p.V1121F|DROSHA_ENST00000442743.1_Missense_Mutation_p.V1084F|DROSHA_ENST00000513349.1_Missense_Mutation_p.V1084F	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1121	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGAAGTCGAACATGAGTAAAA	0.388000													26	2					9.04412e-07	4.32083e-06	0.000720815	1	0
IK	3550	broad.mit.edu	37	5	140035472	140035472	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140035472C>T	ENST00000417647.2	+	9	835	c.696C>T	c.(694-696)ttC>ttT	p.F232F		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	232					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGTTGTTCCTGCCGGGCC	0.502000													9	10					0	0	0.000673444	0	0
TP53BP1	7158	broad.mit.edu	37	15	43773106	43773106	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:43773106G>A	ENST00000263801.3	-	5	723	c.471C>T	c.(469-471)tcC>tcT	p.S157S	TP53BP1_ENST00000450115.2_Silent_p.S162S|TP53BP1_ENST00000382044.4_Silent_p.S162S|TP53BP1_ENST00000382039.3_Silent_p.S162S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	157					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CAGCACCAAGGGAATGTGTAG	0.413000								Other conserved DNA damage response genes					42	35					0	0	0.000509022	0	0
BMP5	653	broad.mit.edu	37	6	55659192	55659192	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:55659192C>T	ENST00000370830.3	-	3	1415	c.717G>A	c.(715-717)aaG>aaA	p.K239K	BMP5_ENST00000446683.2_Silent_p.K239K	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	239					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAGCTTGGGCCTTTCTTGTGT	0.373000													57	79					0	0	0.000781405	0	0
SBSPON	157869	broad.mit.edu	37	8	73982117	73982117	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:73982117C>T	ENST00000297354.6	-	4	804	c.600G>A	c.(598-600)acG>acA	p.T200T	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	200					immune response	extracellular region	polysaccharide binding|scavenger receptor activity										CCACACACACCGTGTATCCCT	0.488000													34	22					0	0	0.000692331	0	0
CCDC60	160777	broad.mit.edu	37	12	119909887	119909887	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:119909887C>T	ENST00000327554.2	+	3	724	c.259C>T	c.(259-261)Cag>Tag	p.Q87*	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	87										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ACAACAACTTCAGAAACTGAA	0.428000													50	100					0	0	0.000781405	0	0
IRF7	3665	broad.mit.edu	37	11	615225	615225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:615225G>A	ENST00000397566.1	-	1	503	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F	IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000397570.1_Missense_Mutation_p.L19F|IRF7_ENST00000525445.1_5'UTR|IRF7_ENST00000397574.2_Missense_Mutation_p.L19F|IRF7_ENST00000348655.6_Missense_Mutation_p.L19F|IRF7_ENST00000330243.5_Missense_Mutation_p.L32F	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	19					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCTCTCCAAGGAGCCACTCT	0.697000													6	6					0	0	0.00198382	0	0
REG3G	130120	broad.mit.edu	37	2	79254218	79254218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:79254218G>A	ENST00000272324.5	+	4	438	c.254G>A	c.(253-255)gGa>gAa	p.G85E	REG3G_ENST00000393897.2_Missense_Mutation_p.G85E|REG3G_ENST00000409471.1_Intron	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	85	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGGCTGAGGGATCCTTCGTG	0.552000													60	56					0	0	0.000781405	0	0
OR1M1	125963	broad.mit.edu	37	19	9204520	9204520	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9204520C>T	ENST00000429566.3	+	1	666	c.600C>T	c.(598-600)ctC>ctT	p.L200L		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCTTCATCCTCATTGTGGCAG	0.567000													50	46					0	0	0.000781405	0	0
TYK2	7297	broad.mit.edu	37	19	10461603	10461603	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:10461603G>A	ENST00000525621.1	-	25	3952	c.3471C>T	c.(3469-3471)tcC>tcT	p.S1157S	TYK2_ENST00000529422.1_5'UTR|TYK2_ENST00000524462.1_Silent_p.S972S|TYK2_ENST00000264818.6_Silent_p.S1157S	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1157	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TTGGGCGAAAGGACGCCTCTG	0.552000													40	30					0	0	0.00222228	0	0
MUC16	94025	broad.mit.edu	37	19	9075994	9075994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9075994G>A	ENST00000397910.4	-	3	11655	c.11452C>T	c.(11452-11454)Ccc>Tcc	p.P3818S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3819	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						GTGGTGGTGGGAAGCTGAGTG	0.507000													59	155					0	0	0.000781405	0	0
TCOF1	6949	broad.mit.edu	37	5	149754238	149754238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:149754238C>T	ENST00000451292.1	+	9	1250	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	TCOF1_ENST00000504761.2_Missense_Mutation_p.S381F|TCOF1_ENST00000439160.2_Missense_Mutation_p.S381F|TCOF1_ENST00000394269.3_Missense_Mutation_p.S381F|TCOF1_ENST00000377797.3_Missense_Mutation_p.S381F|TCOF1_ENST00000513346.1_Missense_Mutation_p.S381F|TCOF1_ENST00000445265.2_Missense_Mutation_p.S304F|TCOF1_ENST00000323668.7_Missense_Mutation_p.S304F			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	381					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCAAGGAGTCCCCCAGGAAA	0.657000													14	38					0	0	0.000219431	0	0
ART3	419	broad.mit.edu	37	4	77003040	77003040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:77003040G>A	ENST00000355810.4	+	3	252	c.133G>A	c.(133-135)Gac>Aac	p.D45N	ART3_ENST00000513494.1_3'UTR|ART3_ENST00000349321.3_Missense_Mutation_p.D45N|ART3_ENST00000341029.5_Missense_Mutation_p.D45N	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	45					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAATGTACGGACAGGATGGA	0.388000													49	52					0	0	0.000781405	0	0
TNS3	64759	broad.mit.edu	37	7	47408318	47408318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:47408318G>A	ENST00000398879.1	-	17	2291	c.1925C>T	c.(1924-1926)gCt>gTt	p.A642V	TNS3_ENST00000355730.3_Missense_Mutation_p.A402V|TNS3_ENST00000311160.9_Missense_Mutation_p.A642V			Q68CZ2	TENS3_HUMAN	tensin 3	642						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCTCTGGACAGCCACCCTACT	0.657000													38	63					0	0	0.00111076	0	0
ST18	9705	broad.mit.edu	37	8	53079445	53079445	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:53079445C>G	ENST00000276480.7	-	11	1854	c.1171G>C	c.(1171-1173)Ggg>Cgg	p.G391R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	391						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGGGGCACCCCGAAAGGCTG	0.562000													43	49					0	0	0.000509022	0	0
OR12D2	26529	broad.mit.edu	37	6	29365088	29365088	+	Silent	SNP	T	T	C	rs144790258	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:29365088T>C	ENST00000383555.2	+	1	673	c.612T>C	c.(610-612)atT>atC	p.I204I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CGGGGACAATTGCCATGGGCC	0.443000													5	131					0	0	0.000274275	0	0
NFASC	23114	broad.mit.edu	37	1	204985599	204985599	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:204985599G>A	ENST00000367172.4	+	32	4304	c.3976G>A	c.(3976-3978)Gag>Aag	p.E1326K	NFASC_ENST00000338515.6_Missense_Mutation_p.E1236K|NFASC_ENST00000367170.4_Missense_Mutation_p.E1247K|NFASC_ENST00000338586.6_Missense_Mutation_p.E1203K|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367171.4_Missense_Mutation_p.E1311K|NFASC_ENST00000404907.1_Missense_Mutation_p.E1153K|NFASC_ENST00000360049.4_Missense_Mutation_p.E1148K|NFASC_ENST00000404076.1_Missense_Mutation_p.E1136K|NFASC_ENST00000339876.6_Missense_Mutation_p.E1219K|NFASC_ENST00000401399.1_Missense_Mutation_p.E1219K|NFASC_ENST00000367169.4_Missense_Mutation_p.E1050K|NFASC_ENST00000539706.1_Missense_Mutation_p.E1153K|NFASC_ENST00000513543.1_Missense_Mutation_p.E1148K			O94856	NFASC_HUMAN	neurofascin	1326					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAAGGACAAGGAGGAAACAGA	0.572000													15	39					0	0	0.000566183	0	0
ZFP30	22835	broad.mit.edu	37	19	38127197	38127197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:38127197G>A	ENST00000351218.2	-	6	802	c.245C>T	c.(244-246)tCc>tTc	p.S82F	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Missense_Mutation_p.S82F|ZFP30_ENST00000514101.2_Missense_Mutation_p.S82F	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTCATATCTGGATTCCAAATC	0.294000													14	11					0	0	0.000422831	0	0
PSD4	23550	broad.mit.edu	37	2	113943598	113943598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:113943598C>T	ENST00000245796.6	+	5	1589	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F	PSD4_ENST00000441564.2_Missense_Mutation_p.S437F	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	465					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGCATCGTCCCAGGAGGGC	0.612000													27	35					0	0	0.00106085	0	0
PCBP1	5093	broad.mit.edu	37	2	70314983	70314983	+	Silent	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:70314983T>C	ENST00000303577.5	+	1	399	c.108T>C	c.(106-108)gtT>gtC	p.V36V	PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	36	KH 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GGGAGTCGGTTAAGAGGATCC	0.527000													56	78					0	0	0.000781405	0	0
SCARF1	8578	broad.mit.edu	37	17	1548500	1548500	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:1548500C>T	ENST00000263071.4	-	2	184	c.135G>A	c.(133-135)tgG>tgA	p.W45*	SCARF1_ENST00000348987.3_Nonsense_Mutation_p.W45*|SCARF1_ENST00000571272.1_Nonsense_Mutation_p.W45*	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	45					cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTTCTGCCTCCAGCCTGCGC	0.622000													93	3					0	0	0.000781405	0	0
CACNG3	10368	broad.mit.edu	37	16	24358083	24358083	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:24358083C>T	ENST00000005284.3	+	2	1442	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	80					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCAAGAAAATCGATCACTTCC	0.582000													9	32					0	0	0.000274275	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103026069	103026069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:103026069C>T	ENST00000375735.2	+	25	3727	c.3583C>T	c.(3583-3585)Cct>Tct	p.P1195S	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.P1195S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1195	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATCGTAATTCCTATCTTGAA	0.333000													18	3					0	0	0.000566183	0	0
FMN2	56776	broad.mit.edu	37	1	240370636	240370636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:240370636G>A	ENST00000319653.9	+	5	2754	c.2524G>A	c.(2524-2526)Gaa>Aaa	p.E842K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	842	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.E985K(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AACCAGCCACGAACACTCTGT	0.557000													62	25					0	0	0.000781405	0	0
PDGFRA	5156	broad.mit.edu	37	4	55155000	55155000	+	Silent	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:55155000T>C	ENST00000257290.5	+	20	3040	c.2709T>C	c.(2707-2709)tcT>tcC	p.S903S	FIP1L1_ENST00000507166.1_Silent_p.S663S	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	903	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGGTGGATTCTACTTTCTACA	0.512000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			30	21					0	0	0.00178596	0	0
DUSP26	78986	broad.mit.edu	37	8	33451117	33451117	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:33451117A>T	ENST00000256261.4	-	3	887	c.370T>A	c.(370-372)Ttt>Att	p.F124I	DUSP26_ENST00000523956.1_Missense_Mutation_p.F124I	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	124	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		CTCATGTCAAAGGCTGGCGAG	0.642000													11	65					0	0	0.000673444	0	0
PTTG2	10744	broad.mit.edu	37	4	37962567	37962567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:37962567C>T	ENST00000504686.1	+	1	512	c.512C>T	c.(511-513)tCt>tTt	p.S171F	TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000261439.4_Intron	NM_006607.2	NP_006598.2	Q9NZH5	PTTG2_HUMAN	pituitary tumor-transforming 2	171					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						AAAATGCCCTCTCCACCATGG	0.488000													80	91					0	0	0.000781405	0	0
CARD10	29775	broad.mit.edu	37	22	37888516	37888516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:37888516C>T	ENST00000403299.1	-	19	2893	c.2677G>A	c.(2677-2679)Gga>Aga	p.G893R	CARD10_ENST00000406271.3_Missense_Mutation_p.G607R|CARD10_ENST00000251973.5_Missense_Mutation_p.G893R			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	893					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TTGGGGGCTCCAGGCGCTGAG	0.672000													33	79					0	0	0.00128727	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702640	27702640	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:27702640C>T	ENST00000438700.3	-	1	657	c.540G>A	c.(538-540)gcG>gcA	p.A180A		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	180					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGCGCCGCTCCGCCTTGGCCG	0.632000													111	57					0	0	0.000781405	0	0
ZNF334	55713	broad.mit.edu	37	20	45130524	45130524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:45130524C>T	ENST00000457685.2	-	6	2663	c.1340G>A	c.(1339-1341)gGa>gAa	p.G447E	ZNF334_ENST00000347606.4_Missense_Mutation_p.G485E|ZNF334_ENST00000593880.1_Missense_Mutation_p.G508E			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATGTTTCTCTCCTGTGTGTGT	0.363000													41	158					0	0	0.00170553	0	0
SPON2	10417	broad.mit.edu	37	4	1165760	1165760	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:1165760T>C	ENST00000290902.5	-	2	432	c.100A>G	c.(100-102)Atc>Gtc	p.I34V	SPON2_ENST00000431380.1_Missense_Mutation_p.I34V	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	34	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		GCGGAACAGATGGACTCTCCC	0.687000													19	33					0	0	0.00229938	0	0
INTS7	25896	broad.mit.edu	37	1	212115247	212115247	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:212115247G>A	ENST00000366994.3	-	20	2912	c.2808C>T	c.(2806-2808)tcC>tcT	p.S936S	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Silent_p.S922S|INTS7_ENST00000366992.3_Silent_p.S916S|INTS7_ENST00000440600.2_Silent_p.S887S	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	936					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GAATTTGCTGGGAATAAGGGT	0.453000													75	38					0	0	0.000781405	0	0
OR1F2P	26184	broad.mit.edu	37	16	3265703	3265703	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:3265703C>T	ENST00000576468.1	+	0	418																											TTGTGTTCTTCCTCAGCATGT	0.557000													8	14					0	0	0.000157383	0	0
CHDH	55349	broad.mit.edu	37	3	53852986	53852986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:53852986G>A	ENST00000315251.5	-	8	1782	c.1345C>T	c.(1345-1347)Cag>Tag	p.Q449*		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	449					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TAGTTGGGCTGGATCACAGGG	0.527000													38	7					0	0	0.00170553	0	0
FAM83B	222584	broad.mit.edu	37	6	54805567	54805567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:54805567C>T	ENST00000306858.7	+	5	1914	c.1798C>T	c.(1798-1800)Ccc>Tcc	p.P600S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	600										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGAATCAATCCCCAAGCTCCC	0.468000													29	30					0	0	0.001512	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38655244	38655244	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:38655244C>T	ENST00000222345.6	+	15	4415	c.3906C>T	c.(3904-3906)tcC>tcT	p.S1302S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1302					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACCCCCTCTCCAAGGGTGGCT	0.657000													8	17					0	0	0.000157383	0	0
CDC14B	8555	broad.mit.edu	37	9	99381652	99381652	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:99381652C>T	ENST00000375241.1	-	1	460	c.9G>A	c.(7-9)cgG>cgA	p.R3R	CDC14B_ENST00000265659.2_Silent_p.R3R|CDC14B_ENST00000375240.3_Silent_p.R3R|CDC14B_ENST00000463569.1_Silent_p.R3R|CDC14B_ENST00000375236.1_Silent_p.R3R	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	3					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GCTCGCTTTTCCGCTTCATGG	0.791000													6	1					0	0	0.000157383	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857546	9857546	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:9857546C>T	ENST00000396573.2	-	14	4164	c.3855G>A	c.(3853-3855)agG>agA	p.R1285R	GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Silent_p.R1285R|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000396575.2_Silent_p.R1285R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1285					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GACGGCTAATCCTTAGCTTGT	0.532000													22	57					0	0	0.000375601	0	0
GPR116	221395	broad.mit.edu	37	6	46851850	46851850	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:46851850A>C	ENST00000283296.7	-	5	775	c.487T>G	c.(487-489)Ttt>Gtt	p.F163V	GPR116_ENST00000456426.2_Missense_Mutation_p.F163V|GPR116_ENST00000265417.7_Missense_Mutation_p.F163V|GPR116_ENST00000362015.4_Missense_Mutation_p.F163V	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	163	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGCAGGCAAAAAGGTCCATTG	0.478000													53	98					0	0	0.000781405	0	0
TNNI3K	51086	broad.mit.edu	37	1	74905279	74905279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:74905279G>A	ENST00000370891.2	+	22	2303	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E763K|TNNI3K_ENST00000326637.3_Missense_Mutation_p.E662K|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E763K	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TCTCACTGGCGAAATTCCATT	0.438000													23	80					0	0	0.000878237	0	0
TSPAN17	26262	broad.mit.edu	37	5	176083871	176083871	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:176083871C>T	ENST00000298564.10	+	4	626	c.477C>T	c.(475-477)tcC>tcT	p.S159S	TSPAN17_ENST00000405525.2_Intron|TSPAN17_ENST00000503045.1_Intron|TSPAN17_ENST00000310032.8_Intron|TSPAN17_ENST00000508164.1_Intron|TSPAN17_ENST00000515708.1_Intron			Q96FV3	TSN17_HUMAN	tetraspanin 17	247						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCACTCTCCCCTCACCTGT	0.622000													12	29					0	0	0.00121646	0	0
SPTA1	6708	broad.mit.edu	37	1	158596768	158596768	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:158596768C>T	ENST00000368148.3	-	41	5874	c.5694G>A	c.(5692-5694)gaG>gaA	p.E1898E	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Silent_p.E1895E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1898					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGGAAGAAATCTCTTTGTTCT	0.423000													68	59					0	0	0.000781405	0	0
HOXB8	3218	broad.mit.edu	37	17	46691711	46691711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:46691711C>T	ENST00000239144.4	-	1	590	c.356G>A	c.(355-357)gGc>gAc	p.G119D	HOXB8_ENST00000576562.1_Missense_Mutation_p.G119D|HOXB7_ENST00000567101.1_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	119						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GGCCTCCTCGCCCAGGCCGCT	0.692000													4	11					0	0	0.00024832	0	0
PLXNA4	91584	broad.mit.edu	37	7	131870132	131870132	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:131870132G>A	ENST00000359827.3	-	16	4046	c.3084C>T	c.(3082-3084)atC>atT	p.I1028I	PLXNA4_ENST00000321063.4_Silent_p.I1028I			Q9HCM2	PLXA4_HUMAN	plexin A4	1028	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane		p.I1028M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGTCCTGGTGGATCTTGGCCC	0.557000													24	94					0	0	0.000720815	0	0
SLC4A9	83697	broad.mit.edu	37	5	139748220	139748220	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:139748220C>T	ENST00000230993.6	+	17	2510	c.2475C>T	c.(2473-2475)tcC>tcT	p.S825S	SLC4A9_ENST00000506757.2_Silent_p.S801S|SLC4A9_ENST00000432095.2_Silent_p.S787S|SLC4A9_ENST00000506545.1_Silent_p.S738S|SLC4A9_ENST00000507527.1_Silent_p.S825S	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	825	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGAGCCTCCATCTTCCTGG	0.527000													12	39					0	0	0.000219431	0	0
EPHB1	2047	broad.mit.edu	37	3	134885813	134885813	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:134885813A>T	ENST00000398015.3	+	9	2094	c.1724A>T	c.(1723-1725)tAc>tTc	p.Y575F	EPHB1_ENST00000493838.1_Missense_Mutation_p.Y136F	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	575						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GAGGCTGTGTACAGCGATAAG	0.547000													46	160					0	0	0.000781405	0	0
ZNF423	23090	broad.mit.edu	37	16	49671869	49671869	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:49671869C>T	ENST00000561648.1	-	4	1247	c.1194G>A	c.(1192-1194)cgG>cgA	p.R398R	ZNF423_ENST00000562520.1_Silent_p.R338R|ZNF423_ENST00000535559.1_Silent_p.R281R|ZNF423_ENST00000562871.1_Silent_p.R338R|ZNF423_ENST00000567169.1_Silent_p.R281R|ZNF423_ENST00000262383.2_Silent_p.R398R|ZNF423_ENST00000563137.2_Silent_p.R338R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	398					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCCCGTCATCCCGCATCTTCT	0.632000													10	30					0	0	0.000978159	0	0
MUC16	94025	broad.mit.edu	37	19	9069614	9069614	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9069614G>A	ENST00000397910.4	-	3	18035	c.17832C>T	c.(17830-17832)tcC>tcT	p.S5944S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5946	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						CTGATACTGCGGAATAAAGAG	0.512000													45	20					0	0	0.000509022	0	0
FAAH	2166	broad.mit.edu	37	1	46876082	46876082	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:46876082C>T	ENST00000243167.8	+	10	1272	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F		NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	396					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	p.F396F(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	AAGGTGATTTCGTGGACCCCT	0.572000													67	260					0	0	0.000781405	0	0
CNTN4	152330	broad.mit.edu	37	3	2908625	2908625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:2908625G>A	ENST00000397461.1	+	7	1028	c.644G>A	c.(643-645)aGa>aAa	p.R215K	CNTN4_ENST00000427331.1_Missense_Mutation_p.R215K|CNTN4_ENST00000418658.1_Missense_Mutation_p.R215K|CNTN4_ENST00000358480.3_5'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	215					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTAATATTGAGAAATGATGGT	0.393000													13	31					0	0	0.00185496	0	0
HSCB	150274	broad.mit.edu	37	22	29139940	29139940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:29139940C>T	ENST00000216027.3	+	2	372	c.307C>T	c.(307-309)Cca>Tca	p.P103S	HSCB_ENST00000398941.2_Missense_Mutation_p.P103S|HSCB_ENST00000495977.1_3'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	103	J.				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						TCTTGTCCACCCAGATTTCTT	0.483000													44	104					0	0	0.000781405	0	0
EPHA6	285220	broad.mit.edu	37	3	96706808	96706808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:96706808G>A	ENST00000389672.5	+	3	1123	c.1085G>A	c.(1084-1086)gGa>gAa	p.G362E	EPHA6_ENST00000470610.2_Missense_Mutation_p.G362E|EPHA6_ENST00000542517.1_Missense_Mutation_p.G268E	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	267	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGCAGTACAGGATATGAAGAA	0.348000													31	53					0	0	0.001512	0	0
SRP19	6728	broad.mit.edu	37	5	112198222	112198222	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:112198222C>A	ENST00000505459.1	+	2	214	c.59C>A	c.(58-60)cCt>cAt	p.P20H	CTC-554D6.1_ENST00000520401.1_Silent_p.S91S|SRP19_ENST00000515463.1_Intron|SRP19_ENST00000282999.3_Missense_Mutation_p.P20H|SRP19_ENST00000512790.1_3'UTR	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN	signal recognition particle 19kDa	20					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		TGTATCTATCCTGCTTATTTA	0.473000													13	13					4.3838e-07	2.09523e-06	0.00185496	1	0
IPO5	3843	broad.mit.edu	37	13	98658486	98658486	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:98658486T>A	ENST00000261574.5	+	17	1834	c.1654T>A	c.(1654-1656)Ttt>Att	p.F552I	IPO5_ENST00000490680.1_Missense_Mutation_p.F534I|IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Missense_Mutation_p.F409I	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	534					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CTATGATTTATTTATGCCATC	0.403000													59	64					0	0	0.000781405	0	0
FAM129A	116496	broad.mit.edu	37	1	184792358	184792358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:184792358G>A	ENST00000367511.3	-	8	1121	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	310					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ATGTCAGAACGGATCGTTCCT	0.428000													23	46					0	0	0.00047179	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034212	52034212	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:52034212G>A	ENST00000346477.3	-	3	497	c.427_splice	c.e3-1	p.A143_splice	SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000359982.4_Splice_Site_p.A143_splice|SIGLEC6_ENST00000436458.1_Splice_Site_p.A107_splice|SIGLEC6_ENST00000343300.4_Splice_Site_p.A143_splice|SIGLEC6_ENST00000425629.3_Splice_Site_p.A143_splice	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	143					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGTGGGTCAGGGCTGGTGAGG	0.622000													49	49					0	0	0.000781405	0	0
CACNA1H	8912	broad.mit.edu	37	16	1245497	1245497	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:1245497G>A	ENST00000348261.5	+	4	725	c.477G>A	c.(475-477)ggG>ggA	p.G159G	CACNA1H_ENST00000565831.1_Silent_p.G159G|CACNA1H_ENST00000358590.4_Silent_p.G159G	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	159					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)	TGGCCTTGGGGCTGTTCGGGC	0.607000													6	8					0	0	0.00198382	0	0
TRIM29	23650	broad.mit.edu	37	11	119991312	119991312	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:119991312C>T	ENST00000341846.5	-	6	1918	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	TRIM29_ENST00000525887.1_5'UTR|TRIM29_ENST00000541857.1_Silent_p.Q232Q|TRIM29_ENST00000529044.1_Silent_p.Q238Q|TRIM29_ENST00000528870.1_Silent_p.Q32Q|TRIM29_ENST00000524816.3_Silent_p.Q65Q	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	499					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TGAAATTCTTCTGGGTGGTCT	0.552000													19	3					0	0	0.00121646	0	0
ADAM10	102	broad.mit.edu	37	15	58936118	58936118	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:58936118G>A	ENST00000260408.3	-	7	1238	c.795C>T	c.(793-795)atC>atT	p.I265I	ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	265	Peptidase M12B.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TGATGTTACGGATTCCGGAGA	0.338000													30	81					0	0	0.000692331	0	0
MYH3	4621	broad.mit.edu	37	17	10551946	10551946	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:10551946G>A	ENST00000583535.1	-	8	750	c.663C>T	c.(661-663)atC>atT	p.I221I	MYH3_ENST00000226209.7_Silent_p.I221I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	221	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGGCACTGATGATTTGATCTT	0.463000													100	6					0	0	0.000781405	0	0
TRAF7	84231	broad.mit.edu	37	16	2225900	2225900	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:2225900C>T	ENST00000326181.6	+	18	1824	c.1692C>T	c.(1690-1692)tcC>tcT	p.S564S		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	564					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						GCGTCTACTCCATTGCTGTGA	0.572000													30	16					0	0	0.00178596	0	0
PDE9A	5152	broad.mit.edu	37	21	44188352	44188352	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:44188352G>A	ENST00000291539.6	+	16	1471	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	PDE9A_ENST00000398225.3_Missense_Mutation_p.E430K|PDE9A_ENST00000398227.3_Missense_Mutation_p.E311K|PDE9A_ENST00000398229.3_Missense_Mutation_p.E337K|PDE9A_ENST00000398232.3_Missense_Mutation_p.E404K|PDE9A_ENST00000398234.3_Missense_Mutation_p.E370K|PDE9A_ENST00000398224.3_Missense_Mutation_p.E344K|PDE9A_ENST00000349112.3_Missense_Mutation_p.E343K|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398236.3_Missense_Mutation_p.E385K|PDE9A_ENST00000380328.2_Missense_Mutation_p.E418K|PDE9A_ENST00000335440.6_Missense_Mutation_p.E369K|PDE9A_ENST00000328862.6_Missense_Mutation_p.E445K|PDE9A_ENST00000539837.1_Missense_Mutation_p.E343K|PDE9A_ENST00000335512.4_Missense_Mutation_p.E411K	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	471	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						CCGTCCAATGGAAGTCGCAGA	0.433000													44	33					0	0	0.000781405	0	0
APBA1	320	broad.mit.edu	37	9	72055996	72055996	+	Silent	SNP	G	G	A	rs143924269	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:72055996G>A	ENST00000265381.4	-	11	2439	c.2217C>T	c.(2215-2217)atC>atT	p.I739I		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	739	PDZ 1.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GACATCTCACGATATTCAGCT	0.458000													48	6					0	0	0.000781405	0	0
CYFIP1	23191	broad.mit.edu	37	15	22945107	22945107	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:22945107T>A	ENST00000313077.7	+	12	1303	c.1178T>A	c.(1177-1179)cTg>cAg	p.L393Q	CYFIP1_ENST00000560848.1_Missense_Mutation_p.L393Q	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	393					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CTCTTCGACCTGGCGCTGCAG	0.701000													10	9					0	0	0.000673444	0	0
JPH3	57338	broad.mit.edu	37	16	87677874	87677874	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:87677874G>A	ENST00000284262.2	+	2	635	c.393G>A	c.(391-393)caG>caA	p.Q131Q		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	131	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GGACCTACCAGGGCCAGTGGG	0.667000													41	22					0	0	0.000781405	0	0
NOTCH1	4851	broad.mit.edu	37	9	139390979	139390979	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:139390979C>T	ENST00000277541.6	-	34	7287	c.7212G>A	c.(7210-7212)caG>caA	p.Q2404Q		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2404	Poly-Gln.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCTTTGCTGCTGCTGGATGT	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			42	3					0	0	0.00195071	0	0
CXorf22	170063	broad.mit.edu	37	X	35985752	35985752	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:35985752C>T	ENST00000297866.5	+	10	1683	c.1617C>T	c.(1615-1617)atC>atT	p.I539I		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	539										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TGCCTTCGATCCGTAATCCCA	0.338000													11	2					0	0	0.000978159	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060522	128060522	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:128060522G>A	ENST00000254730.6	+	5	1287	c.1233G>A	c.(1231-1233)tgG>tgA	p.W411*	EEFSEC_ENST00000483457.1_Nonsense_Mutation_p.W356*|EEFSEC_ENST00000483569.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	411						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GGCAGCAGTGGGCCCTGGTGG	0.602000													37	38					0	0	0.00111076	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34839369	34839369	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:34839369C>T	ENST00000192788.5	+	19	4161	c.3990C>T	c.(3988-3990)atC>atT	p.I1330I	UHRF1BP1_ENST00000452449.2_Silent_p.I1330I	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1330										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATGATATCCCCCCCATCT	0.517000													37	26					0	0	0.00170553	0	0
RGPD8	727851	broad.mit.edu	37	2	113127770	113127770	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:113127770G>A	ENST00000302558.3	-	23	5474	c.5283C>T	c.(5281-5283)tcC>tcT	p.S1761S	RGPD8_ENST00000409750.1_Silent_p.S1621S	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CAGAAGAACGGGAAGGATTTT	0.303000													40	61					0	0	0.000781405	0	0
AGRN	375790	broad.mit.edu	37	1	981185	981185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:981185C>T	ENST00000379370.2	+	15	2659	c.2609C>T	c.(2608-2610)cCc>cTc	p.P870L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	870	Laminin EGF-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TCGTGTAAGCCCGGGGTGGCT	0.672000													72	22					0	0	0.000781405	0	0
TNK1	8711	broad.mit.edu	37	17	7287889	7287889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:7287889C>T	ENST00000570896.1	+	8	1399	c.953C>T	c.(952-954)tCc>tTc	p.S318F	TNK1_ENST00000576812.1_Missense_Mutation_p.S318F|TNK1_ENST00000311668.2_Missense_Mutation_p.S318F			Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	318	Protein kinase.				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				GAGATGTTCTCCGGGGGCGAG	0.682000													19	2					0	0	0.00188189	0	0
BRCA1	672	broad.mit.edu	37	17	41246107	41246107	+	Silent	SNP	G	G	A	rs80357778		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:41246107G>A	ENST00000309486.4	-	9	1580	c.553C>T	c.(553-555)Cta>Tta	p.L185L	BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Silent_p.L481L|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000354071.3_Silent_p.L481L|BRCA1_ENST00000493795.1_Silent_p.L434L|BRCA1_ENST00000346315.3_Silent_p.L481L|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000357654.3_Silent_p.L481L	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	481					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTATAATTAGATTTTCAGTT	0.393000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			40	100					0	0	0.000680045	0	0
PMEPA1	56937	broad.mit.edu	37	20	56234731	56234731	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:56234731G>A	ENST00000341744.3	-	2	451	c.132C>T	c.(130-132)atC>atT	p.I44I	PMEPA1_ENST00000472841.1_5'UTR|PMEPA1_ENST00000265626.4_5'UTR|PMEPA1_ENST00000347215.4_Silent_p.I9I|PMEPA1_ENST00000395814.1_5'UTR|PMEPA1_ENST00000395816.3_5'UTR	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	44					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CGATGATGATGATCTGAACAA	0.572000													5	8					0	0	0.000602214	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447658	10447658	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:10447658G>A	ENST00000326756.3	-	3	733	c.295C>T	c.(295-297)Cat>Tat	p.H99Y		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTCACAAAATGAAAATTGGGA	0.418000													33	45					0	0	0.000953801	0	0
KCNB2	9312	broad.mit.edu	37	8	73848625	73848625	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:73848625G>A	ENST00000523207.1	+	3	1623	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	345					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGGCCATGGGGATAATGATAT	0.473000													39	71					0	0	0.000589545	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229475	140229475	+	Silent	SNP	G	G	A	rs17844330		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140229475G>A	ENST00000378122.3	+	1	2119	c.1395G>A	c.(1393-1395)aaG>aaA	p.K465K	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.K465K|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCGTGAAGGAGAACAACC	0.662000													43	2					0	0	0.00195071	0	0
ZNF670	93474	broad.mit.edu	37	1	247201468	247201468	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:247201468G>C	ENST00000366503.2	-	4	611	c.453C>G	c.(451-453)atC>atG	p.I151M		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TGGTGAGAGAGATAAAGGCTT	0.403000													86	47					0	0	0.000781405	0	0
CADPS2	93664	broad.mit.edu	37	7	122091457	122091457	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:122091457G>A	ENST00000334010.7	-	14	2683	c.2262C>T	c.(2260-2262)tcC>tcT	p.S754S	CADPS2_ENST00000412584.2_Silent_p.S750S|CADPS2_ENST00000313070.7_Silent_p.S750S|CADPS2_ENST00000449022.2_Silent_p.S753S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	753					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						TTTCTAAAAGGGAAGAGAGTC	0.303000													13	39					0	0	0.00185496	0	0
GPR123	84435	broad.mit.edu	37	10	134896174	134896174	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:134896174G>A	ENST00000607359.1	+	6	1260	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCCTTGGCCTGAGGTGGGCAT	0.622000													16	4					0	0	0.00074312	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74911427	74911427	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:74911427C>T	ENST00000289575.5	+	11	2153	c.1758C>T	c.(1756-1758)atC>atT	p.I586I	SLCO2B1_ENST00000532236.1_Silent_p.I470I|SLCO2B1_ENST00000428359.2_Silent_p.I564I|SLCO2B1_ENST00000531756.1_Silent_p.I331I|SLCO2B1_ENST00000525650.1_Silent_p.I442I|SLCO2B1_ENST00000341411.4_Silent_p.I359I|SLCO2B1_ENST00000454962.2_Silent_p.I359I	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	586					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TCATGCTCATCCTAAGGTGAA	0.602000													24	75					0	0	0.00047179	0	0
MKRN2	23609	broad.mit.edu	37	3	12616298	12616298	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:12616298T>A	ENST00000170447.7	+	5	787	c.650T>A	c.(649-651)aTg>aAg	p.M217K	MKRN2_ENST00000448482.1_Missense_Mutation_p.M215K|MKRN2_ENST00000411987.1_Missense_Mutation_p.M174K	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	217	Makorin-type Cys-His.					intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						CAGATCTGCATGTTGACGTTC	0.547000													46	39					0	0	0.000781405	0	0
XKR3	150165	broad.mit.edu	37	22	17288923	17288923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:17288923C>T	ENST00000331428.5	-	2	143	c.41G>A	c.(40-42)gGa>gAa	p.G14E		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	14						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGAAACTCCTCCTGTGCTTTC	0.418000													28	80					0	0	0.0024448	0	0
SCAND3	114821	broad.mit.edu	37	6	28542428	28542428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:28542428C>T	ENST00000452236.2	-	3	2671	c.2054G>A	c.(2053-2055)gGa>gAa	p.G685E		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	685					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TACCCAGTCTCCTACTTTGTC	0.398000													63	83					0	0	0.000781405	0	0
STX1B	112755	broad.mit.edu	37	16	31004166	31004166	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:31004166G>A	ENST00000215095.5	-	10	1074	c.843C>T	c.(841-843)tcC>tcT	p.S281S	STX1B_ENST00000565419.1_3'UTR	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	281					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TCCCCCCAATGGATGACGCCA	0.577000													15	42					0	0	0.000958276	0	0
USP37	57695	broad.mit.edu	37	2	219346947	219346947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:219346947G>A	ENST00000258399.3	-	17	2093	c.1681C>T	c.(1681-1683)Ctc>Ttc	p.L561F	USP37_ENST00000418019.1_Missense_Mutation_p.L561F|USP37_ENST00000475553.1_5'UTR|USP37_ENST00000415516.1_Missense_Mutation_p.L489F|USP37_ENST00000454775.1_Missense_Mutation_p.L561F	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	561					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTCAAATGGAGAATGAGGACC	0.383000													19	51					0	0	0.00229938	0	0
PIWIL2	55124	broad.mit.edu	37	8	22147395	22147395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:22147395G>A	ENST00000356766.6	+	9	1170	c.1022G>A	c.(1021-1023)aGa>aAa	p.R341K	PIWIL2_ENST00000521356.1_Missense_Mutation_p.R341K|PIWIL2_ENST00000454009.2_Missense_Mutation_p.R341K	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	341					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CTTGTGGGGAGAAACTTTTAT	0.338000													16	16					0	0	0.000422831	0	0
EPHA4	2043	broad.mit.edu	37	2	222436924	222436924	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:222436924C>T	ENST00000281821.2	-	1	86	c.45G>A	c.(43-45)ggG>ggA	p.G15G	EPHA4_ENST00000409938.1_Silent_p.G15G|EPHA4_ENST00000392071.4_5'UTR|EPHA4_ENST00000409854.1_Silent_p.G15G	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	15						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CGTCGCAAATCCCGAAGAGAC	0.572000													16	36					0	0	0.000566183	0	0
INPPL1	3636	broad.mit.edu	37	11	71948326	71948326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:71948326C>T	ENST00000298229.2	+	26	3242	c.3038C>T	c.(3037-3039)aCc>aTc	p.T1013I	INPPL1_ENST00000538751.1_Missense_Mutation_p.T771I|INPPL1_ENST00000541756.1_Missense_Mutation_p.T771I	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1013	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCATCTGCCACCAAGAACAAA	0.627000													40	91					0	0	0.00195071	0	0
KIFC1	3833	broad.mit.edu	37	6	33372875	33372875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:33372875C>T	ENST00000428849.2	+	7	1453	c.1003C>T	c.(1003-1005)Ccc>Tcc	p.P335S		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	335	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CCTCCTGTTTCCCTCTGGCCC	0.677000													54	72					0	0	0.000781405	0	0
SGK223	157285	broad.mit.edu	37	8	8234162	8234162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:8234162G>A	ENST00000520004.1	-	3	2021	c.1757C>T	c.(1756-1758)cCa>cTa	p.P586L	SGK223_ENST00000330777.4_Missense_Mutation_p.P586L			Q86YV5	SG223_HUMAN		586							ATP binding|non-membrane spanning protein tyrosine kinase activity										ACCTTGGGATGGAGGCTGGGG	0.677000													17	10					0	0	0.00152264	0	0
DGKG	1608	broad.mit.edu	37	3	186024722	186024722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:186024722C>T	ENST00000265022.3	-	3	651	c.112G>A	c.(112-114)Ggt>Agt	p.G38S	DGKG_ENST00000344484.4_Missense_Mutation_p.G38S|DGKG_ENST00000382164.4_Missense_Mutation_p.G38S|DGKG_ENST00000544847.1_Missense_Mutation_p.G38S	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	38					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.G38S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGGCTCCCACCCTCATTAAAT	0.393000													42	52					0	0	0.000781405	0	0
UBASH3A	53347	broad.mit.edu	37	21	43852252	43852252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:43852252G>A	ENST00000319294.6	+	9	1242	c.1211G>A	c.(1210-1212)gGg>gAg	p.G404E	UBASH3A_ENST00000291535.6_Missense_Mutation_p.G366E|UBASH3A_ENST00000398367.1_Missense_Mutation_p.G366E	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	404	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GTTCGCCACGGGGAGAGAGTG	0.572000													6	16					0	0	0.00198382	0	0
MUC1	4582	broad.mit.edu	37	1	155160214	155160214	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:155160214C>T	ENST00000368395.1	-	5	1136	c.1065G>A	c.(1063-1065)acG>acA	p.T355T	MUC1_ENST00000338684.5_Silent_p.T104T|MUC1_ENST00000368390.3_Silent_p.T135T|MUC1_ENST00000438413.1_Silent_p.T109T|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000337604.5_Silent_p.T153T|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368393.3_Silent_p.T153T|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000457295.2_Silent_p.T144T|MUC1_ENST00000368398.3_Silent_p.T110T|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368392.3_Silent_p.T144T	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1135	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGTCTGAGATCGTCAGGTTAT	0.552000			T	IGH@	B-NHL								16	32					0	0	0.000958276	0	0
TMEM199	147007	broad.mit.edu	37	17	26687798	26687798	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:26687798C>T	ENST00000292114.3	+	5	549	c.459C>T	c.(457-459)ttC>ttT	p.F153F	TMEM199_ENST00000395404.3_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Silent_p.F153F	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	153						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCTTCAATTTCATTGTCACGG	0.502000													62	7					0	0	0.000781405	0	0
MAATS1	89876	broad.mit.edu	37	3	119434558	119434558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:119434558C>T	ENST00000273390.5	+	6	727	c.650C>T	c.(649-651)cCt>cTt	p.P217L	MAATS1_ENST00000463700.1_Missense_Mutation_p.P217L	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		GACTCAATCCCTGAGCTCTTG	0.473000													36	29					0	0	0.00111076	0	0
CCND3	896	broad.mit.edu	37	6	41904341	41904341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:41904341C>T	ENST00000511642.1	-	4	1175	c.424G>A	c.(424-426)Gat>Aat	p.D142N	CCND3_ENST00000511686.1_Intron|CCND3_ENST00000372988.4_Missense_Mutation_p.D142N|CCND3_ENST00000414200.2_Missense_Mutation_p.D151N|CCND3_ENST00000510503.1_Intron|CCND3_ENST00000372987.4_Missense_Mutation_p.D173N|CCND3_ENST00000372991.4_Missense_Mutation_p.D223N|CCND3_ENST00000415497.2_Missense_Mutation_p.D27N			P30281	CCND3_HUMAN	cyclin D3	223	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTGAGCTCATCCCCGGACATG	0.582000			T	IGH@	MM						OREG0017437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	36					0	0	0.00121646	0	0
PER2	8864	broad.mit.edu	37	2	239186556	239186556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:239186556G>A	ENST00000254657.3	-	2	301	c.22C>T	c.(22-24)Ccg>Tcg	p.P8S	PER2_ENST00000254658.3_Missense_Mutation_p.P8S|PER2_ENST00000355768.2_Missense_Mutation_p.P8S|PER2_ENST00000440245.1_Missense_Mutation_p.P8S	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	8					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGGCTGGGCGGAAATTCCGCG	0.607000													9	21					0	0	0.000442599	0	0
TK2	7084	broad.mit.edu	37	16	66565283	66565283	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:66565283C>T	ENST00000299697.7	-	5	725	c.501_splice	c.e5+1	p.Q167_splice	TK2_ENST00000527800.1_Splice_Site_p.Q28_splice|TK2_ENST00000564917.1_Splice_Site_p.Q125_splice|TK2_ENST00000525974.1_Splice_Site_p.Q28_splice|TK2_ENST00000563369.2_Splice_Site_p.Q28_splice|TK2_ENST00000545043.2_Splice_Site_p.Q100_splice|TK2_ENST00000417693.3_Splice_Site_p.Q107_splice|TK2_ENST00000544898.1_Splice_Site_p.Q76_splice|TK2_ENST00000451102.2_Splice_Site_p.Q125_splice|TK2_ENST00000527284.1_Splice_Site_p.Q94_splice	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	125					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		TGAAACCTACCTGAGGACGAG	0.512000													5	25					0	0	0.000602214	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50655029	50655029	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:50655029C>T	ENST00000446044.1	+	4	629	c.33C>T	c.(31-33)ggC>ggT	p.G11G	MAPKAPK3_ENST00000357955.2_Silent_p.G11G	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	11					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGCAGGGGGGCCCTGTGCCCC	0.716000													25	8					0	0	0.000586117	0	0
ZNF330	27309	broad.mit.edu	37	4	142150761	142150761	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:142150761C>A	ENST00000262990.4	+	6	556	c.328C>A	c.(328-330)Cat>Aat	p.H110N	ZNF330_ENST00000421169.2_Missense_Mutation_p.H50N	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	110						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					TTGGGTTTGCCATGGTAGGAA	0.463000													52	57					9.72345e-25	4.70219e-24	0.000781405	1	0
LRRN2	10446	broad.mit.edu	37	1	204588132	204588132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:204588132G>A	ENST00000367175.1	-	1	3201	c.989C>T	c.(988-990)gCc>gTc	p.A330V	LRRN2_ENST00000367176.3_Missense_Mutation_p.A330V|LRRN2_ENST00000367177.3_Missense_Mutation_p.A330V			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	330					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTGGTGGAAGGCGCGGGGGTG	0.607000													12	10					0	0	0.00136819	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713516	222713516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:222713516C>T	ENST00000343410.6	-	4	1344	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	429					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GATGGGGTCCCCTCGGTCCAC	0.577000													238	164					0	0	0.000781405	0	0
NBAS	51594	broad.mit.edu	37	2	15307360	15307360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:15307360G>A	ENST00000281513.5	-	52	6953	c.6928C>T	c.(6928-6930)Cca>Tca	p.P2310S	NBAS_ENST00000441750.1_Missense_Mutation_p.P2190S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2310										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACAATACGTGGATAGAAGGGA	0.547000													35	9					0	0	0.00058488	0	0
WSCD2	9671	broad.mit.edu	37	12	108604066	108604066	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:108604066G>A	ENST00000332082.4	+	5	1484	c.666G>A	c.(664-666)caG>caA	p.Q222Q	WSCD2_ENST00000261400.3_Silent_p.Q222Q|WSCD2_ENST00000547525.1_Silent_p.Q222Q|WSCD2_ENST00000549903.1_Silent_p.Q222Q			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	222						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AGCTGGCCCAGGAGTCGGCCC	0.672000													3	4					0	0	0.00024832	0	0
SLC6A13	6540	broad.mit.edu	37	12	335680	335680	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:335680C>T	ENST00000343164.4	-	9	988	c.935_splice	c.e9-1	p.R312_splice	SLC6A13_ENST00000445055.2_Splice_Site_p.R220_splice	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	312				Missing (in Ref. 1; AAF64247).	neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CGATGCAGTCCCTGTGGGGCA	0.637000													16	10					0	0	0.00121646	0	0
ZBTB46	140685	broad.mit.edu	37	20	62407158	62407158	+	Silent	SNP	G	G	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:62407158G>C	ENST00000245663.4	-	3	1245	c.1095C>G	c.(1093-1095)acC>acG	p.T365T	ZBTB46_ENST00000302995.2_Silent_p.T365T|ZBTB46_ENST00000395104.1_Silent_p.T365T	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TGGCCACCGCGGTGGCCTGAT	0.652000													45	86					0	0	0.000781405	0	0
SCN11A	11280	broad.mit.edu	37	3	38888308	38888308	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:38888308C>T	ENST00000450244.1	-	26	5451	c.5253G>A	c.(5251-5253)gtG>gtA	p.V1751V	SCN11A_ENST00000456224.3_Silent_p.V1713V|SCN11A_ENST00000302328.3_Silent_p.V1751V			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1751					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	cacccttggtcaccttCATCA	0.468000													80	40					0	0	0.000781405	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018188	1018188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:1018188G>A	ENST00000398484.2	+	7	1388	c.808G>A	c.(808-810)Gtg>Atg	p.V270M	FGFRL1_ENST00000504138.1_Missense_Mutation_p.V270M|FGFRL1_ENST00000264748.6_Missense_Mutation_p.V270M|FGFRL1_ENST00000510644.1_Missense_Mutation_p.V270M			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	270	Ig-like C2-type 3.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCAGTGCAAGGTGCGCAGCGA	0.662000													17	35					0	0	0.00152264	0	0
ATP13A4	84239	broad.mit.edu	37	3	193175222	193175222	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:193175222G>A	ENST00000342695.4	-	15	2029	c.1707C>T	c.(1705-1707)atC>atT	p.I569I	ATP13A4_ENST00000392443.3_Silent_p.I550I	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	569					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCACTCCCTTGATGTGGAAAT	0.463000													82	88					0	0	0.000781405	0	0
SF3B3	23450	broad.mit.edu	37	16	70588473	70588473	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:70588473C>T	ENST00000302516.5	+	12	1738	c.1527C>T	c.(1525-1527)tcC>tcT	p.S509S		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	509					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGTCCTGCTCCTTATTAGGAG	0.512000													29	21					0	0	0.00209593	0	0
ITFG3	83986	broad.mit.edu	37	16	304607	304607	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:304607C>T	ENST00000399932.3	+	3	646	c.195C>T	c.(193-195)gtC>gtT	p.V65V	ITFG3_ENST00000442458.2_Silent_p.V65V|ITFG3_ENST00000450082.2_Silent_p.V65V|ITFG3_ENST00000301678.3_Silent_p.V65V|ITFG3_ENST00000301679.2_Silent_p.V65V|ITFG3_ENST00000600536.1_Silent_p.V65V			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	65						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TGGTGTTCGTCGTCTCATTCG	0.597000													154	97					0	0	0.000781405	0	0
OR4K5	79317	broad.mit.edu	37	14	20388956	20388956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:20388956G>A	ENST00000315915.4	+	1	216	c.191G>A	c.(190-192)gGa>gAa	p.G64E		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTCTCTTGGGAAACCTTTCC	0.433000													88	139					0	0	0.000781405	0	0
NNT	23530	broad.mit.edu	37	5	43659398	43659398	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:43659398C>T	ENST00000264663.5	+	17	2801	c.2580C>T	c.(2578-2580)atC>atT	p.I860I	NNT_ENST00000344920.4_Silent_p.I860I|NNT_ENST00000512996.2_Silent_p.I729I	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	860					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGCTGACCATCGTGGGTGCAC	0.507000													54	9					0	0	0.000781405	0	0
CA7	766	broad.mit.edu	37	16	66885423	66885423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:66885423G>A	ENST00000394069.3	+	4	678	c.247G>A	c.(247-249)Gca>Aca	p.A83T	CA7_ENST00000338437.2_Missense_Mutation_p.A139T|RP11-61A14.1_ENST00000551187.1_RNA	NM_001014435.1	NP_001014435.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	139					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GGCGGCCTCAGCACCTGATGG	0.587000													123	67					0	0	0.000781405	0	0
PEBP4	157310	broad.mit.edu	37	8	22675180	22675180	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:22675180G>A	ENST00000256404.6	-	4	418	c.327C>T	c.(325-327)ttC>ttT	p.F109F	PEBP4_ENST00000521284.1_5'UTR	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	109						lysosome				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		AATGTCTCCAGAATCTCTGTC	0.483000													57	42					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9075414	9075414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9075414G>A	ENST00000397910.4	-	3	12235	c.12032C>T	c.(12031-12033)tCc>tTc	p.S4011F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4013	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCAAGAAGGAATTAGGCTC	0.478000													14	53					0	0	0.000566183	0	0
TTI1	9675	broad.mit.edu	37	20	36641847	36641847	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:36641847G>A	ENST00000373448.2	-	3	610	c.372C>T	c.(370-372)atC>atT	p.I124I	TTI1_ENST00000449821.1_Silent_p.I124I|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Silent_p.I124I	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	124							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TAAGTCCCTGGATCACAGCCA	0.463000													72	120					0	0	0.000781405	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42833015	42833015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:42833015C>T	ENST00000314073.5	+	13	3247	c.3071C>T	c.(3070-3072)cCc>cTc	p.P1024L	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.P1024L					GLTSCR1-like																		GGACGGCAGCCCCAGAGTGAC	0.512000													38	67					0	0	0.00195071	0	0
TRAK1	22906	broad.mit.edu	37	3	42251704	42251704	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:42251704C>T	ENST00000341421.3	+	13	2209	c.2016C>T	c.(2014-2016)atC>atT	p.I672I	TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000327628.5_Intron	NM_001265608.1|NM_014965.4	NP_001252537.1|NP_055780.2	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	533					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CAGGCACCATCCGTAGTGGTT	0.502000													161	104					0	0	0.000781405	0	0
ROS1	6098	broad.mit.edu	37	6	117658463	117658463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:117658463C>T	ENST00000368508.3	-	31	5318	c.5120G>A	c.(5119-5121)aGc>aAc	p.S1707N	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S1701N	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1707	Fibronectin type-III 8.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGACCTTGGCTGCATGAAGT	0.323000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								39	6					0	0	0.000680045	0	0
MROH5	389690	broad.mit.edu	37	8	142486025	142486025	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:142486025C>T	ENST00000430863.1	-	0	1748					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CACAGCAAACCTGTAGGTGCT	0.577000													6	18					0	0	0.00116845	0	0
LPAL2	80350	broad.mit.edu	37	6	160908435	160908435	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:160908435G>A	ENST00000335388.5	-	0	537					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CGAACAATCCGGATTCCTGCA	0.493000													18	4					0	0	0.000958276	0	0
RGL1	23179	broad.mit.edu	37	1	183857695	183857695	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:183857695T>C	ENST00000304685.3	+	9	1605	c.1144T>C	c.(1144-1146)Tgg>Cgg	p.W382R	RGL1_ENST00000360851.3_Missense_Mutation_p.W347R|RGL1_ENST00000367531.1_Missense_Mutation_p.W382R|RGL1_ENST00000539189.1_Missense_Mutation_p.W347R|RGL1_ENST00000536277.1_Missense_Mutation_p.W345R	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	347	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AAAAAAGACTTGGGCTGCCGT	0.468000													30	83					0	0	0.00106085	0	0
DOCK2	1794	broad.mit.edu	37	5	169116293	169116293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:169116293C>T	ENST00000256935.8	+	9	879	c.799C>T	c.(799-801)Cct>Tct	p.P267S		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	267					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGGGGCTTCCCTAAGGAGAT	0.522000													26	21					0	0	0.00058488	0	0
PAPSS1	9061	broad.mit.edu	37	4	108552847	108552847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:108552847G>A	ENST00000265174.4	-	11	1948	c.1676C>T	c.(1675-1677)cCc>cTc	p.P559L		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	559					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		AACTCGAAAGGGAACTATTTC	0.428000													18	33					0	0	0.000958276	0	0
NME8	51314	broad.mit.edu	37	7	37916593	37916593	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:37916593C>T	ENST00000199447.4	+	12	1350	c.978C>T	c.(976-978)ctC>ctT	p.L326L	NME8_ENST00000440017.1_Silent_p.L326L|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	326	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GACCAAATCTCTTTCATGAAA	0.303000													24	30					0	0	0.00127121	0	0
IL17RC	84818	broad.mit.edu	37	3	9962213	9962213	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:9962213G>A	ENST00000295981.3	+	6	935	c.717G>A	c.(715-717)ggG>ggA	p.G239G	IL17RC_ENST00000416074.2_Silent_p.G39G|IL17RC_ENST00000403601.3_Silent_p.G168G|IL17RC_ENST00000455057.1_Silent_p.G168G|IL17RC_ENST00000413608.1_Silent_p.G168G|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000383812.4_Silent_p.G168G	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	239						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGCCCTAGGGAGTGAGGTAC	0.597000													6	3					0	0	0.000157383	0	0
GPR139	124274	broad.mit.edu	37	16	20043243	20043243	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:20043243G>A	ENST00000570682.1	-	2	1176	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	292						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CCATGGTGCGGAACCGCTTGC	0.507000													67	54					0	0	0.000781405	0	0
IGLV2-33	28811	broad.mit.edu	37	22	22931119	22931119	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:22931119C>T	ENST00000390302.2	+	0	372																											GAGGTTGAGGCTAATTATCAC	0.507000													49	146					0	0	0.000781405	0	0
SSFA2	6744	broad.mit.edu	37	2	182783380	182783380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:182783380C>T	ENST00000431877.2	+	12	3022	c.2843C>T	c.(2842-2844)tCa>tTa	p.S948L	SSFA2_ENST00000320370.7_Missense_Mutation_p.S948L|SSFA2_ENST00000428267.2_Missense_Mutation_p.S795L|SSFA2_ENST00000409001.1_Missense_Mutation_p.S948L|SSFA2_ENST00000409136.1_Missense_Mutation_p.S457L	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	948						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)			ACTCAGAAATCATCTGTTCTA	0.313000													30	62					0	0	0.000692331	0	0
FAM135B	51059	broad.mit.edu	37	8	139323149	139323149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:139323149C>T	ENST00000395297.1	-	3	262	c.92G>A	c.(91-93)cGa>cAa	p.R31Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	31								p.R31L(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAAGGTCACTCGGATCTGGTA	0.493000										HNSCC(54;0.14)			31	60					0	0	0.00178596	0	0
UPK1A	11045	broad.mit.edu	37	19	36168744	36168744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:36168744G>A	ENST00000222275.2	+	6	679	c.679G>A	c.(679-681)Gac>Aac	p.D227N	UPK1A_ENST00000379013.2_Silent_p.S259S	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	227					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCACGCCATCGACAGCTACAC	0.637000													6	16					0	0	0.00198382	0	0
LIG1	3978	broad.mit.edu	37	19	48620929	48620929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:48620929G>A	ENST00000263274.7	-	26	2968	c.2549C>T	c.(2548-2550)tCc>tTc	p.S850F	LIG1_ENST00000536218.1_Missense_Mutation_p.S782F|LIG1_ENST00000427526.2_Missense_Mutation_p.S819F	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	850					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GGGAGAGAGGGAGAGGTCAGC	0.662000								Nucleotide excision repair (NER)					5	16					0	0	0.000602214	0	0
ATP2A3	489	broad.mit.edu	37	17	3853997	3853997	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:3853997G>A	ENST00000309890.7	-	6	684	c.534C>T	c.(532-534)tcC>tcT	p.S178S	ATP2A3_ENST00000397043.3_Silent_p.S178S|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Silent_p.S178S|ATP2A3_ENST00000397041.3_Silent_p.S178S|ATP2A3_ENST00000359983.3_Silent_p.S178S|ATP2A3_ENST00000397035.3_Silent_p.S178S	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	178					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCGTCAGGATGGACTGGTCCA	0.627000													17	96					0	0	0.00188189	0	0
PLEKHB2	55041	broad.mit.edu	37	2	131897829	131897829	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:131897829C>T	ENST00000439822.2	+	5	485	c.380C>T	c.(379-381)cCt>cTt	p.P127L	PLEKHB2_ENST00000409612.1_Silent_p.P171P|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000234115.6_Silent_p.P170P|PLEKHB2_ENST00000403716.1_Silent_p.P171P|PLEKHB2_ENST00000538982.1_Silent_p.P123P|PLEKHB2_ENST00000409158.1_Silent_p.P179P|PLEKHB2_ENST00000409279.1_Silent_p.P171P|PLEKHB2_ENST00000438882.2_Intron	NM_001267068.1	NP_001253997.1	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	0						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		ATGCCGTGCCCTACCAGTACC	0.502000													18	15					0	0	0.00121646	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713214	142713214	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:142713214G>A	ENST00000369381.2	-	0	1391																											CTTTCCAGTGGAATTATTCAC	0.388000													40	26					0	0	0.00148497	0	0
CHTF18	63922	broad.mit.edu	37	16	846795	846795	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:846795C>T	ENST00000317063.6	+	21	3162	c.3162C>T	c.(3160-3162)gcC>gcT	p.A1054A	CHTF18_ENST00000455171.2_Silent_p.A873A|CHTF18_ENST00000262315.9_Silent_p.A845A			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	845					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				AGCTCATCGCCCGCGAGATCG	0.662000													12	16					0	0	0.00229938	0	0
GGPS1	9453	broad.mit.edu	37	1	235505825	235505825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:235505825C>T	ENST00000282841.5	+	4	873	c.641C>T	c.(640-642)tCa>tTa	p.S214L	GGPS1_ENST00000488594.1_Missense_Mutation_p.S214L|GGPS1_ENST00000358966.2_Missense_Mutation_p.S214L|GGPS1_ENST00000391855.2_Missense_Mutation_p.S160L|GGPS1_ENST00000476121.1_Missense_Mutation_p.S214L			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	214					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)			GGAAAGTTCTCATTTCCTACT	0.368000													17	51					0	0	0.00152264	0	0
OVGP1	5016	broad.mit.edu	37	1	111957394	111957394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:111957394G>A	ENST00000369732.3	-	11	1784	c.1729C>T	c.(1729-1731)Ccc>Tcc	p.P577S		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	577					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTTCTGGAGGGGACAGTCACC	0.517000													88	49					0	0	0.000781405	0	0
CACNA1A	773	broad.mit.edu	37	19	13476261	13476261	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:13476261C>T	ENST00000360228.5	-	5	653	c.654G>A	c.(652-654)tcG>tcA	p.S218S	CACNA1A_ENST00000573710.2_Silent_p.S218S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	218			S -> L (in FHM1; dbSNP:rs121908225).		cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCTTCATGATCGACTTCAGGA	0.493000													16	29					0	0	0.000958276	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673474	141673474	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141673474G>A	ENST00000547270.1	-	1	99	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	6					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GTGCGGATGCGAGTTAGAGTC	0.448000													18	99					0	0	0.00074312	0	0
OBSCN	84033	broad.mit.edu	37	1	228475871	228475871	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:228475871G>A	ENST00000570156.2	+	42	11282	c.11208G>A	c.(11206-11208)aaG>aaA	p.K3736K	OBSCN_ENST00000284548.11_Silent_p.K3307K|OBSCN_ENST00000359599.6_Silent_p.K2154K|OBSCN_ENST00000422127.1_Silent_p.K3307K|OBSCN_ENST00000366707.4_Silent_p.K426K|OBSCN_ENST00000366709.4_Silent_p.K426K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2772	Ig-like 38.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGTGGAGAAAGGGGTCCGAGA	0.632000													30	71					0	0	0.000491102	0	0
ECT2	1894	broad.mit.edu	37	3	172482202	172482202	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:172482202C>T	ENST00000417960.1	+	12	1584	c.1107C>T	c.(1105-1107)ccC>ccT	p.P369P	ECT2_ENST00000540509.1_Silent_p.P401P|ECT2_ENST00000392692.3_Silent_p.P401P|ECT2_ENST00000441497.2_Silent_p.P370P|ECT2_ENST00000232458.5_Silent_p.P370P|ECT2_ENST00000427830.1_Silent_p.P370P	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	370					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CATTTCCACCCCGTAAGCGCC	0.453000													33	53					0	0	0.000491102	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8657694	8657694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:8657694G>A	ENST00000270328.4	-	12	1806	c.1540C>T	c.(1540-1542)Ccg>Tcg	p.P514S	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.P514S			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	514	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCGGCGGCCGGGATGCTGTTG	0.716000													31	39					0	0	0.00058488	0	0
TLR4	7099	broad.mit.edu	37	9	120475851	120475851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:120475851C>T	ENST00000355622.6	+	3	1546	c.1445C>T	c.(1444-1446)tCt>tTt	p.S482F	TLR4_ENST00000394487.4_Missense_Mutation_p.S442F|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	482					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GCTGGCAATTCTTTCCAGGAA	0.448000													49	6					0	0	0.000781405	0	0
PLBD2	196463	broad.mit.edu	37	12	113824828	113824828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:113824828G>A	ENST00000280800.3	+	10	1404	c.1373G>A	c.(1372-1374)cGg>cAg	p.R458Q	PLBD2_ENST00000545182.2_Missense_Mutation_p.R426Q	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	458					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GGGAGCCCCCGGGCCCAGATC	0.607000													39	41					0	0	0.00222228	0	0
EPHA1	2041	broad.mit.edu	37	7	143095808	143095808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:143095808C>T	ENST00000275815.3	-	6	1308	c.1222G>A	c.(1222-1224)Ggc>Agc	p.G408S		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	408	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGTTCAAGGCCATTGACATGC	0.632000													35	61					0	0	0.000953801	0	0
FCGBP	8857	broad.mit.edu	37	19	40392521	40392521	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:40392521G>A	ENST00000221347.6	-	16	7990	c.7983C>T	c.(7981-7983)ttC>ttT	p.F2661F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2661	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGAGCCCACAGAACTCCTCCT	0.632000													5	20					0	0	0.00116845	0	0
ZIM3	114026	broad.mit.edu	37	19	57646552	57646552	+	Missense_Mutation	SNP	G	G	A	rs150510557		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:57646552G>A	ENST00000269834.1	-	5	1538	c.1153C>T	c.(1153-1155)Cat>Tat	p.H385Y		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H385Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCCCAGTATGGATTTTTTTA	0.393000													25	149					0	0	0.00047179	0	0
WFDC10B	280664	broad.mit.edu	37	20	44313538	44313538	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:44313538G>A	ENST00000330523.5	-	4	383	c.153C>T	c.(151-153)ttC>ttT	p.F51F	WFDC10B_ENST00000335769.2_Silent_p.F67F	NM_172006.2	NP_742003.1	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B	51	WAP.					extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				CACACTTTTGGAAATATGAAC	0.463000													82	54					0	0	0.000781405	0	0
EPG5	57724	broad.mit.edu	37	18	43535255	43535255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:43535255G>A	ENST00000282041.5	-	2	147	c.113C>T	c.(112-114)tCc>tTc	p.S38F		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	38					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TTTTGGAAGGGAGACTTCACT	0.398000													42	29					0	0	0.000680045	0	0
CHIA	27159	broad.mit.edu	37	1	111861282	111861282	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:111861282G>A	ENST00000369740.1	+	9	1000	c.897G>A	c.(895-897)ggG>ggA	p.G299G	RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000353665.6_Silent_p.G138G|CHIA_ENST00000430615.1_Silent_p.G191G|CHIA_ENST00000343320.6_Silent_p.G299G|CHIA_ENST00000451398.2_Silent_p.G138G|CHIA_ENST00000483391.1_Silent_p.G138G	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	299					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		AGGAGTCTGGGATCTGGGCTT	0.517000													23	117					0	0	0.000375601	0	0
DESI1	27351	broad.mit.edu	37	22	42003275	42003275	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:42003275G>A	ENST00000263256.6	-	3	427	c.171C>T	c.(169-171)agC>agT	p.S57S		NM_015704.2	NP_056519.1	Q6ICB0	PPDE2_HUMAN	desumoylating isopeptidase 1	57	PPPDE peptidase.																CCGGGGGGCAGCTGGAGATAC	0.527000													32	22					0	0	0.000491102	0	0
OR2A2	442361	broad.mit.edu	37	7	143807053	143807053	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:143807053C>T	ENST00000408979.2	+	1	447	c.378C>T	c.(376-378)tgC>tgT	p.C126C		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGGCCATCTGCCACCCTTTCC	0.473000													34	120					0	0	0.0024448	0	0
DNAH3	55567	broad.mit.edu	37	16	21008666	21008666	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:21008666G>A	ENST00000261383.3	-	44	6539	c.6540C>T	c.(6538-6540)atC>atT	p.I2180I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2180	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCATGTCCACGATGTCCAGCC	0.552000													21	55					0	0	0.00152264	0	0
NLRP8	126205	broad.mit.edu	37	19	56466362	56466362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:56466362C>T	ENST00000291971.3	+	3	1009	c.938C>T	c.(937-939)tCt>tTt	p.S313F	NLRP8_ENST00000590542.1_Missense_Mutation_p.S313F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	313	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGCCTGGGTCTGTCCTACTG	0.507000													94	47					0	0	0.000781405	0	0
CCDC91	55297	broad.mit.edu	37	12	28412319	28412319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:28412319G>A	ENST00000545336.1	+	6	472	c.53G>A	c.(52-54)gGa>gAa	p.G18E	CCDC91_ENST00000381256.1_Missense_Mutation_p.G18E|CCDC91_ENST00000539107.1_Missense_Mutation_p.G18E|CCDC91_ENST00000381259.1_Missense_Mutation_p.G18E			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	18					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TTTGATGGTGGAAGTGGTGAA	0.398000													26	53					0	0	0.0024448	0	0
RSU1P2	100133308	broad.mit.edu	37	10	45602574	45602574	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:45602574C>T	ENST00000423875.1	-	0	862																											GGCATGGAACCCAACCATTTG	0.433000													6	7					0	0	0.00116845	0	0
ARRDC4	91947	broad.mit.edu	37	15	98512549	98512549	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:98512549C>T	ENST00000268042.6	+	5	986	c.822C>T	c.(820-822)atC>atT	p.I274I	ARRDC4_ENST00000538249.1_Silent_p.I187I	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	274					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CGCTAAAAATCCCACCTGTTA	0.433000													37	24					0	0	0.00128727	0	0
RP11-44F14.1	0	broad.mit.edu	37	16	53404789	53404789	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:53404789C>T	ENST00000565421.1	-	0	252																											TTCCAATTTGCTGATATCAAA	0.413000													9	33					0	0	0.000442599	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287225	29287225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:29287225G>A	ENST00000266943.6	-	3	1021	c.652C>T	c.(652-654)Ctc>Ttc	p.L218F	SLC46A3_ENST00000380814.4_Missense_Mutation_p.L218F	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	218					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GGATCTCCGAGAAAAAATAAA	0.338000													24	20					0	0	0.00047179	0	0
MTCH2	23788	broad.mit.edu	37	11	47656245	47656245	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:47656245G>A	ENST00000302503.3	-	5	505	c.348C>T	c.(346-348)tcC>tcT	p.S116S	MTCH2_ENST00000542981.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	116					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CGTGGTCAAAGGAAGATGAGA	0.363000													8	29					0	0	0.000978159	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921509	12921509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:12921509C>T	ENST00000240189.2	+	4	1387	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	434										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCCACTTCGGGCTGAGCT	0.557000													86	18					0	0	0.000781405	0	0
CPAMD8	27151	broad.mit.edu	37	19	17039796	17039796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:17039796C>T	ENST00000443236.1	-	24	3272	c.3241G>A	c.(3241-3243)Gaa>Aaa	p.E1081K		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1034						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						GTTCTGAATTCATCCCAGGAG	0.562000													17	39					0	0	0.00121646	0	0
TMEM230	29058	broad.mit.edu	37	20	5081503	5081503	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:5081503G>A	ENST00000379286.2	-	5	717	c.297C>T	c.(295-297)atC>atT	p.I99I	TMEM230_ENST00000379283.2_Silent_p.I99I|TMEM230_ENST00000342308.5_Silent_p.I162I|TMEM230_ENST00000379277.2_Silent_p.I99I|TMEM230_ENST00000379279.2_Silent_p.I99I|TMEM230_ENST00000492419.1_5'UTR|TMEM230_ENST00000202834.7_Silent_p.I99I	NM_001009924.1	NP_001009924.1	Q96A57	CT030_HUMAN	transmembrane protein 230	99						integral to membrane											CATAGTAAGCGATGCGCAGGT	0.537000											OREG0025754	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	88					0	0	0.00198382	0	0
NPAP1	23742	broad.mit.edu	37	15	24923694	24923694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:24923694G>A	ENST00000329468.2	+	1	3154	c.2680G>A	c.(2680-2682)Gga>Aga	p.G894R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTTAAATACAGGATCCATCTC	0.502000													87	84					0	0	0.000781405	0	0
STAB2	55576	broad.mit.edu	37	12	104099426	104099426	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:104099426G>T	ENST00000388887.2	+	37	4121	c.3917G>T	c.(3916-3918)aGa>aTa	p.R1306I		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1306					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						GAGAAGAGGAGATGCATCTAT	0.413000													18	17					1.33834e-09	6.41261e-09	0.000958276	1	0
OR2M3	127062	broad.mit.edu	37	1	248366863	248366863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:248366863C>T	ENST00000456743.1	+	1	532	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCAACATTTTCCTTCTCCTAC	0.433000													90	61					0	0	0.000781405	0	0
CYP4F12	66002	broad.mit.edu	37	19	15784509	15784509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:15784509G>A	ENST00000550308.1	+	2	550	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	CYP4F12_ENST00000324632.9_Missense_Mutation_p.R57Q	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCCCCAAAACGGAACTGGTTT	0.587000													73	40					0	0	0.000781405	0	0
CASC5	57082	broad.mit.edu	37	15	40902456	40902456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:40902456G>A	ENST00000346991.5	+	6	601	c.211G>A	c.(211-213)Gag>Aag	p.E71K	CASC5_ENST00000527044.1_Missense_Mutation_p.E71K|CASC5_ENST00000399668.2_Missense_Mutation_p.E71K			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	71	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ATTCCAGACGGAGTCTCATAT	0.308000													45	57					0	0	0.000781405	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050499	110050499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:110050499C>T	ENST00000369864.4	-	2	1385	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	AMIGO1_ENST00000369862.1_Missense_Mutation_p.E346K			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	346	Ig-like C2-type.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTGAAAGTCTCTCCCATGGCA	0.512000													53	28					0	0	0.000781405	0	0
TRAV13-2	28670	broad.mit.edu	37	14	22386477	22386477	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:22386477G>A	ENST00000390439.2	+	0	115																											GGCTGCAGCTGGACTGTAAGT	0.408000													68	45					0	0	0.000781405	0	0
TJP3	27134	broad.mit.edu	37	19	3733819	3733819	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:3733819G>A	ENST00000541714.2	+	7	1248	c.786G>A	c.(784-786)ggG>ggA	p.G262G	TJP3_ENST00000262968.9_Silent_p.G281G|TJP3_ENST00000539908.2_Silent_p.G226G|TJP3_ENST00000589378.1_Silent_p.G271G|TJP3_ENST00000382008.3_Silent_p.G262G|TJP3_ENST00000587686.1_Silent_p.G281G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	262	PDZ 2.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCAGAAGGGAAGCTAAGCC	0.562000													44	77					0	0	0.00170553	0	0
CHRM5	1133	broad.mit.edu	37	15	34356068	34356068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:34356068G>A	ENST00000383263.5	+	3	1820	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	CHRM5_ENST00000557872.1_Missense_Mutation_p.V384M	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	384					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	GTTCCGATTGGTGGTAAAAGC	0.493000													46	49					0	0	0.000680045	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489581	133489581	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:133489581G>A	ENST00000409261.1	-	17	5545	c.5172C>T	c.(5170-5172)acC>acT	p.T1724T	NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000317721.6_Silent_p.T1724T|NCKAP5_ENST00000409213.1_Silent_p.T405T|NCKAP5_ENST00000405974.3_Silent_p.T405T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1724							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGAGTGGAAAGGTTCCGATCC	0.532000													18	21					0	0	0.00074312	0	0
MKL2	57496	broad.mit.edu	37	16	14334138	14334138	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:14334138G>A	ENST00000571589.1	+	10	1048	c.876G>A	c.(874-876)aaG>aaA	p.K292K	MKL2_ENST00000341243.5_Silent_p.K281K|MKL2_ENST00000574045.1_Silent_p.K292K|MKL2_ENST00000318282.5_Silent_p.K292K|MKL2_ENST00000573051.1_Silent_p.K241K|MKL2_ENST00000572567.1_Silent_p.K281K	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	281					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTAGCAAAAAGTGCAAAGATC	0.383000													50	20					0	0	0.000781405	0	0
TIAM1	7074	broad.mit.edu	37	21	32582379	32582379	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:32582379G>A	ENST00000286827.3	-	12	2841	c.2370C>T	c.(2368-2370)acC>acT	p.T790T	TIAM1_ENST00000541036.1_Silent_p.T765T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	790	RBD.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCAGCTCCAGGGTGTCCCGTG	0.532000													28	24					0	0	0.001512	0	0
NLRC3	197358	broad.mit.edu	37	16	3613900	3613900	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:3613900C>T	ENST00000301749.7	-	0	1443				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGGCCCCGTCCTGCTGCGCC	0.662000													33	13					0	0	0.000814825	0	0
APOB	338	broad.mit.edu	37	2	21233797	21233797	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:21233797C>T	ENST00000233242.1	-	26	6070	c.5943G>A	c.(5941-5943)tgG>tgA	p.W1981*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1981					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTTGAGTTTCCAGGTGCCTG	0.468000													386	241					0	0	0.000781405	0	0
ABCC6	368	broad.mit.edu	37	16	16284023	16284023	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:16284023G>A	ENST00000205557.7	-	12	1662	c.1633C>T	c.(1633-1635)Ctg>Ttg	p.L545L	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	545	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GACGTCACCAGAAATGTAGAC	0.632000													19	31					0	0	0.00229938	0	0
DCP2	167227	broad.mit.edu	37	5	112339742	112339742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:112339742C>T	ENST00000389063.2	+	8	1108	c.910C>T	c.(910-912)Cat>Tat	p.H304Y	DCP2_ENST00000515408.1_Missense_Mutation_p.H304Y|DCP2_ENST00000543319.1_Missense_Mutation_p.H93Y	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN	decapping mRNA 2	304					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		ATATAATAATCATTCTGAAAT	0.388000													12	27					0	0	0.00185496	0	0
SUPT6H	6830	broad.mit.edu	37	17	27015132	27015132	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:27015132G>A	ENST00000314616.6	+	24	3313	c.3030G>A	c.(3028-3030)cgG>cgA	p.R1010R	SUPT6H_ENST00000347486.4_Silent_p.R1010R	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1010					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACAACACCCGGCTCGAGAGCC	0.592000													48	3					0	0	0.000781405	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97397094	97397094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:97397094G>A	ENST00000371224.2	-	4	540	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	ALDH18A1_ENST00000371221.3_Nonsense_Mutation_p.Q135*|ALDH18A1_ENST00000483788.1_5'UTR	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	135	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	CGCACGCTCTGAGACAGAAGG	0.552000													6	45					0	0	0.00198382	0	0
RNF103	7844	broad.mit.edu	37	2	86831597	86831597	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:86831597A>T	ENST00000237455.4	-	4	2395	c.1427T>A	c.(1426-1428)tTt>tAt	p.F476Y	AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	476					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TTCTACAGGAAAGTTCTGAAA	0.433000													36	40					0	0	0.000491102	0	0
C2	717	broad.mit.edu	37	6	31902149	31902149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:31902149C>T	ENST00000418949.2	+	6	972	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F	C2_ENST00000452323.2_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000469372.1_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000442278.2_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000299367.5_Intron					complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CCTTCCCCTCCTCAGAACCCC	0.493000													36	52					0	0	0.000692331	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657351	46657351	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:46657351C>A	ENST00000253255.5	-	1	1868	c.1869G>T	c.(1867-1869)ttG>ttT	p.L623F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	623	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACTGAGGCCCCAAGTACAGGA	0.448000													7	132					0.00198382	0.00936454	0.00198382	1	0
ADAMDEC1	27299	broad.mit.edu	37	8	24251634	24251634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:24251634G>A	ENST00000538205.1	+	5	647	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.E113K|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.E34K	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	113					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CAGAGGAGAGGAAATTACCAC	0.453000													8	14					0	0	0.000157383	0	0
C20orf112	140688	broad.mit.edu	37	20	31044121	31044121	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:31044121C>A	ENST00000359676.5	-	3	329	c.187G>T	c.(187-189)Gac>Tac	p.D63Y	C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN	chromosome 20 open reading frame 112	63										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						AAGGCAGGGTCGCCCTGCGTG	0.642000													20	50					9.7654e-05	0.000464029	0.000958276	1	0
LHFP	10186	broad.mit.edu	37	13	39918104	39918104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:39918104G>A	ENST00000379589.3	-	4	1034	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	191						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		TTTCTTGCCCGAAAAGCAAGC	0.557000			T	HMGA2	lipoma								25	63					0	0	0.000720815	0	0
EHD1	10938	broad.mit.edu	37	11	64645688	64645688	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:64645688G>A	ENST00000320631.3	-	1	503	c.249C>T	c.(247-249)ttC>ttT	p.F83F	EHD1_ENST00000359393.2_Silent_p.F83F	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	83					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GCATCCCCGGGAAGTCCTGCT	0.657000													34	22					0	0	0.000692331	0	0
PLCH2	9651	broad.mit.edu	37	1	2421304	2421304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:2421304G>A	ENST00000449969.1	+	10	1593	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N	PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.D505N|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.D505N|PLCH2_ENST00000378486.3_Missense_Mutation_p.D505N			O75038	PLCH2_HUMAN	phospholipase C, eta 2	505					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CCTCAATGGGGATGTGAGTCG	0.592000													50	26					0	0	0.000781405	0	0
RIMS2	9699	broad.mit.edu	37	8	105257214	105257214	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:105257214G>A	ENST00000507740.1	+	18	3083	c.2847G>A	c.(2845-2847)agG>agA	p.R949R	RIMS2_ENST00000436393.2_Silent_p.R1153R|RIMS2_ENST00000406091.3_Silent_p.R1135R|RIMS2_ENST00000262231.10_Silent_p.R974R|RIMS2_ENST00000339750.2_Silent_p.R71R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1197					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGAAATGAGGAACTGGATGA	0.473000										HNSCC(12;0.0054)			113	86					0	0	0.000781405	0	0
COL7A1	1294	broad.mit.edu	37	3	48614144	48614144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:48614144G>A	ENST00000328333.8	-	67	5772	c.5665C>T	c.(5665-5667)Cca>Tca	p.P1889S	COL7A1_ENST00000454817.1_Intron	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1889	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGAGGCCTGGAGGCCCCTGG	0.612000													16	0					0	0	0.00074312	0	0
SORBS1	10580	broad.mit.edu	37	10	97111052	97111052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:97111052G>A	ENST00000371247.2	-	25	2485	c.2296C>T	c.(2296-2298)Ccg>Tcg	p.P766S	SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371239.1_Missense_Mutation_p.P543S|SORBS1_ENST00000306402.6_Missense_Mutation_p.P513S|SORBS1_ENST00000353505.5_Missense_Mutation_p.P617S|SORBS1_ENST00000277982.5_Missense_Mutation_p.P788S|SORBS1_ENST00000354106.3_Missense_Mutation_p.P736S|SORBS1_ENST00000371245.3_Missense_Mutation_p.P617S|SORBS1_ENST00000607232.1_Missense_Mutation_p.P1026S|SORBS1_ENST00000371227.4_Missense_Mutation_p.P720S|SORBS1_ENST00000347291.4_Missense_Mutation_p.P578S|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.P766S|SORBS1_ENST00000371246.2_Missense_Mutation_p.P788S|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000393949.1_Missense_Mutation_p.P736S			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	766					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TGGTGCGTCGGAATGACGCCT	0.468000													43	7					0	0	0.000680045	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786742	121786742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:121786742C>T	ENST00000261367.7	+	12	3769	c.2341C>T	c.(2341-2343)Cct>Tct	p.P781S	SNCAIP_ENST00000379536.2_Missense_Mutation_p.P674S|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P336S|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P292S|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P734S|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P368S|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P781S			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	734					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ACGCAGGTTTCCTTTCAGCAT	0.547000													34	14					0	0	0.000491102	0	0
BZRAP1	9256	broad.mit.edu	37	17	56405038	56405038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:56405038C>T	ENST00000355701.3	-	1	1114	c.244G>A	c.(244-246)Gct>Act	p.A82T	BZRAP1_ENST00000268893.6_Missense_Mutation_p.A82T|BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1_ENST00000343736.4_Missense_Mutation_p.A82T	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	82						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCAGACAAGCCTCTGCTCCT	0.607000													32	24					0	0	0.001512	0	0
SETDB2	83852	broad.mit.edu	37	13	50062521	50062521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:50062521C>T	ENST00000354234.4	+	12	2578	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S	SETDB2_ENST00000317257.8_Missense_Mutation_p.P570S	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	570	SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AGAAACTCCACCAAGGAGCAG	0.378000													37	66					0	0	0.00148497	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711711	155711711	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:155711711C>T	ENST00000295101.2	+	3	1869	c.1392C>T	c.(1390-1392)agC>agT	p.S464S		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	464					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ATCCCATGAGCCAGTCTGTGG	0.448000													36	30					0	0	0.00111076	0	0
TSIX	9383	broad.mit.edu	37	X	73046552	73046552	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:73046552C>T	ENST00000604411.1	+	0	34513				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CTCCAGATTCCGGCCGTTAGT	0.507000													49	8					0	0	0.000781405	0	0
BRMS1	25855	broad.mit.edu	37	11	66105737	66105737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:66105737G>A	ENST00000359957.3	-	9	870	c.710C>T	c.(709-711)tCc>tTc	p.S237F	BRMS1_ENST00000425825.2_Missense_Mutation_p.S237F|RP11-867G23.12_ENST00000526655.1_RNA	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	237					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CTTCTGAGGGGACACAGCTGC	0.592000													6	5					0	0	0.00116845	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486500	76486500	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:76486500G>A	ENST00000307431.8	+	9	1549	c.1164G>A	c.(1162-1164)gaG>gaA	p.E388E	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.E340E|CNTNAP4_ENST00000478060.1_Silent_p.E316E|CNTNAP4_ENST00000476707.1_Silent_p.E392E	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	389					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCTCTGGAGAGGAGGAGGTTT	0.463000													16	74					0	0	0.000422831	0	0
SAMD7	344658	broad.mit.edu	37	3	169644765	169644765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:169644765G>A	ENST00000428432.2	+	6	1104	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	SAMD7_ENST00000335556.3_Missense_Mutation_p.E239K	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	239										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GAAGTCAAGTGAAACGAATGA	0.493000													22	51					0	0	0.000375601	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676170	37676170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:37676170G>A	ENST00000532828.2	-	5	2520	c.2269C>T	c.(2269-2271)Cag>Tag	p.Q757*	ZNF585B_ENST00000531805.1_Nonsense_Mutation_p.Q702*|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Nonsense_Mutation_p.Q345*	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTGATTTCTGAACGAAGCCT	0.483000													25	38					0	0	0.00178596	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455191	187455191	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:187455191C>T	ENST00000307161.5	-	2	906	c.705G>A	c.(703-705)agG>agA	p.R235R	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	235					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TGACAAAATTCCTGAAGTCCT	0.502000													29	14					0	0	0.00178596	0	0
IGLC7	28834	broad.mit.edu	37	22	23264834	23264834	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:23264834G>A	ENST00000390331.1	+	0	69																											AGCCAACAAGGCCACACTGGT	0.632000													26	47					0	0	0.00106085	0	0
VSIG1	340547	broad.mit.edu	37	X	107310195	107310195	+	Silent	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:107310195A>G	ENST00000415430.3	+	4	512	c.351A>G	c.(349-351)gtA>gtG	p.V117V	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Silent_p.V81V	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	81	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GACAAGCTGTAGCCATCGGGC	0.428000													22	2					0	0	0.000375601	0	0
GJA8	2703	broad.mit.edu	37	1	147380211	147380211	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:147380211C>T	ENST00000240986.4	+	2	182	c.129C>T	c.(127-129)ttC>ttT	p.F43F	GJA8_ENST00000369235.1_Silent_p.F43F	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	43					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGCAGAGTTCGTGTGGGGGG	0.592000													15	38					0	0	0.000566183	0	0
PEX26	55670	broad.mit.edu	37	22	18561251	18561251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:18561251C>T	ENST00000329627.6	+	2	315	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	PEX26_ENST00000399744.3_Missense_Mutation_p.L37F|PEX26_ENST00000428061.2_Missense_Mutation_p.L37F	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	37					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ggccgTGGACCTTCTGGAGGA	0.751000													3	5					0	0	6.4e-05	0	0
FGFR1	2260	broad.mit.edu	37	8	38275752	38275752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:38275752C>T	ENST00000341462.5	-	10	2365	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	FGFR1_ENST00000397108.4_Missense_Mutation_p.R473Q|FGFR1_ENST00000397103.1_Missense_Mutation_p.R386Q|FGFR1_ENST00000397113.2_Missense_Mutation_p.R473Q|FGFR1_ENST00000335922.5_Missense_Mutation_p.R465Q|FGFR1_ENST00000356207.5_Missense_Mutation_p.R386Q|FGFR1_ENST00000397091.5_Missense_Mutation_p.R473Q|FGFR1_ENST00000326324.6_Missense_Mutation_p.R384Q|FGFR1_ENST00000447712.2_Missense_Mutation_p.R475Q|FGFR1_ENST00000532791.1_Missense_Mutation_p.R473Q|FGFR1_ENST00000425967.3_Missense_Mutation_p.R506Q			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	475					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TTACCTGTCCCGAGGCAGCTC	0.532000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						85	81					0	0	0.000781405	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590624	140590624	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140590624G>A	ENST00000239450.2	+	1	2334	c.2145G>A	c.(2143-2145)agG>agA	p.R715R	PCDHB12_ENST00000541609.1_Silent_p.R378R	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		715					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)			GGCTGTGCAGGAGGAGCAGGG	0.672000													36	106					0	0	0.00195071	0	0
OR6C65	403282	broad.mit.edu	37	12	55794521	55794521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:55794521C>T	ENST00000379665.2	+	1	308	c.209C>T	c.(208-210)tCa>tTa	p.S70L		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTAGAAATTTCATTTACGACA	0.318000													17	35					0	0	0.000422831	0	0
C5AR1	728	broad.mit.edu	37	19	47823206	47823206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:47823206G>A	ENST00000355085.3	+	2	194	c.172G>A	c.(172-174)Gtg>Atg	p.V58M		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	58					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CAATGCCCTGGTGGTCTGGGT	0.582000													24	33					0	0	0.00127121	0	0
GPR174	84636	broad.mit.edu	37	X	78426883	78426883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:78426883C>T	ENST00000276077.1	+	1	415	c.379C>T	c.(379-381)Cat>Tat	p.H127Y		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	127						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTTTCGCTTCCATGACTGCAA	0.458000										HNSCC(63;0.18)			70	16					0	0	0.000781405	0	0
VRK3	51231	broad.mit.edu	37	19	50492947	50492947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:50492947G>A	ENST00000599538.1	-	11	1709	c.1045C>T	c.(1045-1047)Cct>Tct	p.P349S	VRK3_ENST00000594092.1_Missense_Mutation_p.P349S|VRK3_ENST00000377011.2_Missense_Mutation_p.P299S|VRK3_ENST00000443401.2_Missense_Mutation_p.P118S|VRK3_ENST00000593919.1_Missense_Mutation_p.P349S|VRK3_ENST00000601912.1_Missense_Mutation_p.P299S|VRK3_ENST00000316763.3_Missense_Mutation_p.P349S|VRK3_ENST00000601341.1_Missense_Mutation_p.P299S|VRK3_ENST00000594948.1_Missense_Mutation_p.P349S			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	349	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CCCTCGTGAGGGCTCCTGCTG	0.572000													13	48					0	0	0.00185496	0	0
FAM131B	9715	broad.mit.edu	37	7	143054043	143054043	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:143054043G>A	ENST00000409408.1	-	6	2307	c.599C>T	c.(598-600)tCg>tTg	p.S200L	FAM131B_ENST00000443739.2_Missense_Mutation_p.S228L|FAM131B_ENST00000409578.1_Missense_Mutation_p.S216L|FAM131B_ENST00000409346.1_Missense_Mutation_p.S200L|FAM131B_ENST00000409222.3_Missense_Mutation_p.S200L			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	200										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GGCATCTGACGACCCCAGACA	0.552000													15	54					0	0	0.000422831	0	0
MCAM	4162	broad.mit.edu	37	11	119181572	119181572	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:119181572C>G	ENST00000264036.4	-	14	1701	c.1687G>C	c.(1687-1689)Gtg>Ctg	p.V563L	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	563					anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ATCACAGCCACGATGACCACG	0.617000													24	70					0	0	0.000720815	0	0
CYP4B1	1580	broad.mit.edu	37	1	47280910	47280910	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:47280910C>T	ENST00000271153.4	+	8	1080	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	CYP4B1_ENST00000371919.4_Silent_p.I334I|CYP4B1_ENST00000371923.4_Silent_p.I349I|CYP4B1_ENST00000452782.2_Silent_p.I186I			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	348					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TCCGCGAGATCCTAGGGGACC	0.582000													27	19					0	0	0.00178596	0	0
DEPDC4	120863	broad.mit.edu	37	12	100657659	100657659	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:100657659G>A	ENST00000416321.1	-	2	172	c.170C>T	c.(169-171)cCt>cTt	p.P57L		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	57					intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						AGCTTGAAAAGGACCAGAGCA	0.338000													27	23					0	0	0.00178596	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2901655	2901655	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:2901655G>A	ENST00000254695.8	+	14	1275	c.1185G>A	c.(1183-1185)gaG>gaA	p.E395E	RAP1GAP2_ENST00000540393.2_Silent_p.E376E|RAP1GAP2_ENST00000366401.4_Silent_p.E380E|RAP1GAP2_ENST00000542807.1_Silent_p.E395E	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	395	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						CAGGCACAGAGACCCCATCCT	0.537000													133	9					0	0	0.000781405	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51650538	51650538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:51650538G>A	ENST00000317643.6	+	6	1254	c.1185G>A	c.(1183-1185)atG>atA	p.M395I	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.M302I	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	395					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ACATAGGCATGAAGGATGCAA	0.572000													24	27					0	0	0.000878237	0	0
CROCC	9696	broad.mit.edu	37	1	17265513	17265513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:17265513C>T	ENST00000375541.5	+	12	1553	c.1484C>T	c.(1483-1485)cCa>cTa	p.P495L	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	495					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACCCCGTCCCCACCGCGGCGC	0.746000													17	1					0	0	0.000566183	0	0
C2orf40	84417	broad.mit.edu	37	2	106690397	106690397	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:106690397C>T	ENST00000409944.1	+	4	306	c.75C>T	c.(73-75)ttC>ttT	p.F25F	C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000238044.3_Silent_p.F61F			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	61						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						CCAAAGAATTCCTTGGCAGCC	0.517000													92	109					0	0	0.000781405	0	0
CNBD1	168975	broad.mit.edu	37	8	87917317	87917317	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:87917317T>A	ENST00000518476.1	+	3	218	c.167T>A	c.(166-168)aTg>aAg	p.M56K		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	56										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AGCCGGAGTATGAGCAATATC	0.333000													8	22					0	0	0.000157383	0	0
AQP12B	653437	broad.mit.edu	37	2	241621907	241621907	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:241621907C>T	ENST00000407834.3	-	1	410	c.348G>A	c.(346-348)gcG>gcA	p.A116A		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	104						integral to membrane	transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GCCCCTGTGCCGCCAGCTTCA	0.692000													19	7					0	0	0.00121646	0	0
AGO1	26523	broad.mit.edu	37	1	36360796	36360796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:36360796C>T	ENST00000373204.4	+	8	1159	c.946C>T	c.(946-948)Ctt>Ttt	p.L316F	AGO1_ENST00000373206.1_Missense_Mutation_p.L241F	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		GAAATATAACCTTCAGCTCAA	0.507000													17	50					0	0	0.000566183	0	0
PYCRL	65263	broad.mit.edu	37	8	144687954	144687954	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:144687954G>A	ENST00000220966.6	-	6	806	c.777C>T	c.(775-777)gcC>gcT	p.A259A	PYCRL_ENST00000495276.1_5'UTR|PYCRL_ENST00000377579.3_Silent_p.A110A	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	247					proline biosynthetic process		pyrroline-5-carboxylate reductase activity			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CCTGCTCCAGGGCGTGGAGTC	0.682000													29	71					0	0	0.0024448	0	0
BATF2	116071	broad.mit.edu	37	11	64756792	64756792	+	Missense_Mutation	SNP	C	C	T	rs139572037		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:64756792C>T	ENST00000301887.4	-	3	764	c.634G>A	c.(634-636)Gag>Aag	p.E212K	BATF2_ENST00000527716.1_Missense_Mutation_p.E188K|BATF2_ENST00000435842.2_Missense_Mutation_p.E127K	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	212						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						GTGGGATGCTCCAGCTCGAGG	0.647000													20	21					0	0	0.000958276	0	0
UNKL	64718	broad.mit.edu	37	16	1453339	1453339	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:1453339G>A	ENST00000389221.4	-	3	293	c.294C>T	c.(292-294)ccC>ccT	p.P98P	UNKL_ENST00000301712.5_Silent_p.P98P|UNKL_ENST00000508903.2_Silent_p.P98P|UNKL_ENST00000397462.1_Silent_p.P185P|UNKL_ENST00000503648.1_5'UTR	NM_001193388.1	NP_001180317.1	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	98						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GGTGCAGGTAGGGACACCTGG	0.617000													9	16					0	0	0.000673444	0	0
TPP2	7174	broad.mit.edu	37	13	103295587	103295587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:103295587C>T	ENST00000376052.3	+	17	2052	c.2036C>T	c.(2035-2037)tCg>tTg	p.S679L	TPP2_ENST00000376065.4_Missense_Mutation_p.S679L			P29144	TPP2_HUMAN	tripeptidyl peptidase II	679					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACAGTGTGTTCGTGTTCTTCT	0.363000													19	43					0	0	0.00229938	0	0
TAT	6898	broad.mit.edu	37	16	71604251	71604251	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:71604251G>A	ENST00000355962.4	-	9	1095	c.962C>T	c.(961-963)aCc>aTc	p.T321I	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	321					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CTGGACAATGGTACAGGGTCC	0.502000													38	21					0	0	0.00128727	0	0
SLC6A12	6539	broad.mit.edu	37	12	305415	305415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:305415C>T	ENST00000428720.1	-	12	1944	c.1201G>A	c.(1201-1203)Gag>Aag	p.E401K	SLC6A12_ENST00000536824.1_Missense_Mutation_p.E401K|SLC6A12_ENST00000359674.4_Missense_Mutation_p.E401K|SLC6A12_ENST00000424061.2_Missense_Mutation_p.E401K|SLC6A12_ENST00000397296.2_Missense_Mutation_p.E401K	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	401					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ACCAGGCACTCCACACAGACA	0.642000													18	6					0	0	0.000958276	0	0
SLC39A5	283375	broad.mit.edu	37	12	56631453	56631453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:56631453G>A	ENST00000266980.4	+	11	1854	c.1561G>A	c.(1561-1563)Ggc>Agc	p.G521S	SLC39A5_ENST00000419232.1_3'UTR|SLC39A5_ENST00000454355.2_Missense_Mutation_p.G521S	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	521					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGGGGGGCGGCCTCATGCT	0.652000													6	28					0	0	0.00116845	0	0
ZNF525	170958	broad.mit.edu	37	19	53884139	53884139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:53884139G>A	ENST00000467003.1	+	4	400	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.E103K|ZNF525_ENST00000600148.1_3'UTR					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						TCAGTGGCAAGAAGATGAAAG	0.393000													77	89					0	0	0.000781405	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140794330	140794330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140794330C>T	ENST00000398610.2	+	1	1588	c.1588C>T	c.(1588-1590)Cat>Tat	p.H530Y	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCAGTTTCATGAGCTACA	0.532000													85	72					0	0	0.000781405	0	0
PPY	5539	broad.mit.edu	37	17	42018914	42018914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:42018914G>A	ENST00000591228.1	-	2	196	c.109C>T	c.(109-111)Cca>Tca	p.P37S	PPY_ENST00000225992.3_Missense_Mutation_p.P37S|PPY_ENST00000587006.1_Missense_Mutation_p.P37S			P01298	PAHO_HUMAN	pancreatic polypeptide	37					digestion|protein secretion	extracellular region	hormone activity			large_intestine(2)|lung(1)|skin(1)	4		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TTGTCCCCTGGGTACACTGGC	0.612000													17	51					0	0	0.000566183	0	0
DCST2	127579	broad.mit.edu	37	1	155002639	155002639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:155002639C>T	ENST00000368424.3	-	7	1156	c.1098G>A	c.(1096-1098)atG>atA	p.M366I	DCST2_ENST00000295536.5_Missense_Mutation_p.M366I	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	366						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCACAGCCTCCATGCGCAGGA	0.597000													62	40					0	0	0.000781405	0	0
MGAM	8972	broad.mit.edu	37	7	141763352	141763352	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141763352G>A	ENST00000475668.2	+	36	4365	c.4311G>A	c.(4309-4311)agG>agA	p.R1437R	MGAM_ENST00000549489.2_Silent_p.R1437R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1437	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)	CAGGCTGCAGGGACGCCTCTC	0.502000													6	26					0	0	0.000157383	0	0
APOM	55937	broad.mit.edu	37	6	31625002	31625002	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:31625002G>A	ENST00000375916.3	+	3	766	c.269_splice	c.e3-1	p.M90_splice	APOM_ENST00000375920.4_Splice_Site_p.M18_splice|APOM_ENST00000375918.2_Splice_Site_p.M18_splice	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	90					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						ACCTCTGCAGGAAAGATGGGC	0.507000													115	181					0	0	0.000781405	0	0
KANSL1L	151050	broad.mit.edu	37	2	210962892	210962892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:210962892G>A	ENST00000281772.9	-	5	1731	c.1468C>T	c.(1468-1470)Cct>Tct	p.P490S	KANSL1L_ENST00000418791.1_Missense_Mutation_p.P490S|KANSL1L_ENST00000452086.1_Missense_Mutation_p.P490S|KANSL1L_ENST00000457374.1_Missense_Mutation_p.P490S	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	490																	AAGTTGAGAGGGGCAATCAAA	0.428000													8	34					0	0	0.000274275	0	0
OR10C1	442194	broad.mit.edu	37	6	29407875	29407875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:29407875C>T	ENST00000444197.2	+	1	793	c.83C>T	c.(82-84)tCt>tTt	p.S28F	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCTCTTCTCTGTCTTTCTC	0.537000													46	64					0	0	0.000680045	0	0
GNB1L	54584	broad.mit.edu	37	22	19789715	19789715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:19789715G>A	ENST00000329517.6	-	7	777	c.541C>T	c.(541-543)Ctt>Ttt	p.L181F	GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Missense_Mutation_p.L181F|GNB1L_ENST00000403325.1_Missense_Mutation_p.L181F	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	181					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CCGGCCAGAAGGAGTGGGCGG	0.642000													17	37					0	0	0.000958276	0	0
TTC13	79573	broad.mit.edu	37	1	231044507	231044507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:231044507C>T	ENST00000366661.4	-	22	2426	c.2419G>A	c.(2419-2421)Ggt>Agt	p.G807S	TTC13_ENST00000366662.4_Missense_Mutation_p.G753S|TTC13_ENST00000414259.1_Missense_Mutation_p.G754S	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	807							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GCCTCTGAACCAGGGGCTGTC	0.448000													16	32					0	0	0.000958276	0	0
ADCY1	107	broad.mit.edu	37	7	45632475	45632475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:45632475C>T	ENST00000297323.7	+	2	779	c.757C>T	c.(757-759)Cga>Tga	p.R253*	ADCY1_ENST00000432715.1_Nonsense_Mutation_p.R28*	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	253					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CATTGAGGACCGACTGAGGCT	0.597000													40	35					0	0	0.000953801	0	0
THEM5	284486	broad.mit.edu	37	1	151820666	151820666	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:151820666C>G	ENST00000368817.5	-	4	698	c.567G>C	c.(565-567)agG>agC	p.R189S	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	189							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACTTTTTGAACCTGATGTTGA	0.557000													48	33					0	0	0.000781405	0	0
FLT3	2322	broad.mit.edu	37	13	28589333	28589333	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:28589333C>A	ENST00000380982.4	-	22	2804	c.2723G>T	c.(2722-2724)gGa>gTa	p.G908V	FLT3_ENST00000537084.1_Missense_Mutation_p.G864V|FLT3_ENST00000241453.7_Missense_Mutation_p.G905V			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	905	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.G885fs*4(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CATTTTAAATCCATTTTGAAT	0.373000			"""Mis, O"""		"""AML, ALL"""								7	4					8.12818e-05	0.000386552	0.00198382	1	0
MAP3K15	389840	broad.mit.edu	37	X	19410163	19410163	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:19410163C>T	ENST00000338883.4	-	18	2387	c.2388G>A	c.(2386-2388)tcG>tcA	p.S796S	MAP3K15_ENST00000469203.2_Silent_p.S628S|MAP3K15_ENST00000359173.3_Silent_p.S231S|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	796	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding	p.S843S(1)|p.S271S(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAAGACGTTTCGAGGTTCCAA	0.488000													22	0					0	0	0.000375601	0	0
SHROOM1	134549	broad.mit.edu	37	5	132161783	132161783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:132161783G>A	ENST00000378679.3	-	4	854	c.50C>T	c.(49-51)aCt>aTt	p.T17I	SHROOM1_ENST00000378676.1_Missense_Mutation_p.T17I|SHROOM1_ENST00000319854.3_Missense_Mutation_p.T17I	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	17					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGGCTGCTAGTGGACGAGGC	0.711000													16	6					0	0	0.00121646	0	0
BVES	11149	broad.mit.edu	37	6	105563648	105563648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:105563648C>T	ENST00000314641.5	-	7	1087	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	BVES_ENST00000336775.5_Missense_Mutation_p.E291K|BVES_ENST00000446408.2_Missense_Mutation_p.E291K	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	291					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TTCCTCATTTCCAACATGGAG	0.463000													42	8					0	0	0.00170553	0	0
RGS19	10287	broad.mit.edu	37	20	62705292	62705292	+	Silent	SNP	G	G	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:62705292G>T	ENST00000395042.1	-	6	834	c.568C>A	c.(568-570)Cgg>Agg	p.R190R	RGS19_ENST00000332298.5_Silent_p.R190R	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	190	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TAGGAGTCCCGGTGCATGAGC	0.662000													6	132					1.12685e-05	5.37234e-05	0.000274275	1	0
TEX13A	56157	broad.mit.edu	37	X	104464876	104464876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:104464876C>T	ENST00000372578.3	-	2	317	c.206G>A	c.(205-207)tGg>tAg	p.W69*	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Nonsense_Mutation_p.W69*|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Nonsense_Mutation_p.W69*	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	69						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CAGGCTGCCCCAGGTGCAGGC	0.587000													12	4					0	0	0.000978159	0	0
CACNA1C	775	broad.mit.edu	37	12	2162765	2162765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:2162765G>A	ENST00000399655.1	+	1	302	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	CACNA1C_ENST00000335762.5_Missense_Mutation_p.E13K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E13K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E13K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000480911.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E13K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E13K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E13K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E13K	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	13					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CATTCCAGAGGAAAACCACCA	0.597000													4	7					0	0	0.00116845	0	0
SNORD114-26	767606	broad.mit.edu	37	14	101453423	101453423	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:101453423G>A	ENST00000363543.1	+	0	41					NR_003219.1																						AGTCACATACGATGAATACGT	0.378000													31	72					0	0	0.000953801	0	0
SPEG	10290	broad.mit.edu	37	2	220354580	220354580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:220354580G>A	ENST00000312358.7	+	36	8972	c.8840G>A	c.(8839-8841)cGa>cAa	p.R2947Q	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2947	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCAGTCCCCGAAGCTCTCCC	0.657000													21	14					0	0	0.000375601	0	0
DSC1	1823	broad.mit.edu	37	18	28725576	28725576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:28725576C>T	ENST00000257197.3	-	7	1198	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	DSC1_ENST00000257198.5_Missense_Mutation_p.E313K|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	313	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATCATTACTTCTCTATCCAGA	0.383000													23	34					0	0	0.000375601	0	0
LTBP1	4052	broad.mit.edu	37	2	33468816	33468816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:33468816G>A	ENST00000404816.2	+	10	2317	c.1964G>A	c.(1963-1965)gGa>gAa	p.G655E	LTBP1_ENST00000354476.3_Missense_Mutation_p.G655E|LTBP1_ENST00000418533.2_Missense_Mutation_p.G329E|LTBP1_ENST00000390003.4_Missense_Mutation_p.G329E|LTBP1_ENST00000402934.1_Missense_Mutation_p.G329E|LTBP1_ENST00000404525.1_Missense_Mutation_p.G329E|LTBP1_ENST00000407925.1_Missense_Mutation_p.G329E			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	655	EGF-like 3; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGCAAAATAGGATTTGGGCCG	0.383000													57	32					0	0	0.000781405	0	0
CHRM3	1131	broad.mit.edu	37	1	240071798	240071798	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:240071798C>T	ENST00000255380.4	+	5	1826	c.1047C>T	c.(1045-1047)tcC>tcT	p.S349S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	349					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGAGAACTCCGCCTCCTCCG	0.572000													9	6					0	0	0.000274275	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20876032	20876032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:20876032C>T	ENST00000381552.1	+	9	1398	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	SLCO1C1_ENST00000266509.2_Missense_Mutation_p.P344S|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.P226S|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.P295S|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.P344S			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	344					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.P344S(2)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AGATTTTCTTCCATCACTGAA	0.413000													30	33					0	0	0.00209593	0	0
SDK1	221935	broad.mit.edu	37	7	4051763	4051763	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:4051763G>A	ENST00000404826.2	+	16	2455	c.2316G>A	c.(2314-2316)ccG>ccA	p.P772P	SDK1_ENST00000389531.3_Silent_p.P772P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	772	Fibronectin type-III 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTGCTCCCCCGAAAAATATAG	0.522000													103	115					0	0	0.000781405	0	0
AOX1	316	broad.mit.edu	37	2	201507454	201507454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:201507454C>T	ENST00000374700.2	+	25	3018	c.2777C>T	c.(2776-2778)cCt>cTt	p.P926L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	926					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTTGGCTTTCCTCAGGCAGCG	0.483000													62	46					0	0	0.000781405	0	0
RYR2	6262	broad.mit.edu	37	1	237972271	237972271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:237972271G>A	ENST00000366574.2	+	100	14686	c.14369G>A	c.(14368-14370)cGa>cAa	p.R4790Q	RYR2_ENST00000360064.6_Missense_Mutation_p.R4796Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R4774Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4790					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R4788Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATTTTTTCCGAAAATTCTAC	0.353000													74	192					0	0	0.000781405	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769639	112769639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:112769639G>A	ENST00000390666.3	-	1	1089	c.898C>T	c.(898-900)Ccc>Tcc	p.P300S	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	300					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CCAGGTTCGGGGGTCCACAAG	0.622000													11	23					0	0	0.000673444	0	0
AP3M2	10947	broad.mit.edu	37	8	42024823	42024823	+	Silent	SNP	C	C	T	rs146759837		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:42024823C>T	ENST00000518421.1	+	8	1236	c.945C>T	c.(943-945)ccC>ccT	p.P315P	AP3M2_ENST00000396926.3_Silent_p.P315P|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Silent_p.P315P	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	315	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GCCAGATGCCCAAGGGGGTCC	0.537000													18	41					0	0	0.00074312	0	0
ZNF711	7552	broad.mit.edu	37	X	84526691	84526691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:84526691G>A	ENST00000360700.4	+	10	3167	c.2281G>A	c.(2281-2283)Gat>Aat	p.D761N	ZNF711_ENST00000542798.1_Missense_Mutation_p.D557N|ZNF711_ENST00000395402.1_Missense_Mutation_p.D723N|ZNF711_ENST00000373165.3_Missense_Mutation_p.D715N|ZNF711_ENST00000276123.3_Missense_Mutation_p.D715N			Q9Y462	ZN711_HUMAN	zinc finger protein 711	715					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CAGCACTACAGATGCATCTGG	0.378000													25	3					0	0	0.000586117	0	0
CRTAC1	55118	broad.mit.edu	37	10	99771025	99771025	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:99771025C>A	ENST00000370597.3	-	2	449	c.94G>T	c.(94-96)Gaa>Taa	p.E32*	CRTAC1_ENST00000370591.2_Nonsense_Mutation_p.E32*|CRTAC1_ENST00000298819.4_Nonsense_Mutation_p.E32*	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	32						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		AACATGGGTTCAGCCCGCTGG	0.512000													37	41					6.70999e-13	3.22451e-12	0.000814825	1	0
OR4A47	403253	broad.mit.edu	37	11	48510455	48510455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:48510455G>A	ENST00000446524.1	+	1	187	c.111G>A	c.(109-111)atG>atA	p.M37I		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTTTGACCATGGTGGGCAACC	0.418000													15	8					0	0	0.000422831	0	0
CASZ1	54897	broad.mit.edu	37	1	10714564	10714564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:10714564C>T	ENST00000377022.3	-	10	2067	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	CASZ1_ENST00000344008.5_Missense_Mutation_p.D584N	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGGAAGCCGTCGTTAATGAGC	0.572000													147	12					0	0	0.000781405	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642816	1642816	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:1642816A>C	ENST00000399682.1	-	1	552	c.508T>G	c.(508-510)Tgt>Ggt	p.C170G		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	230	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GATGACCCACAACCTGAGGAG	0.612000													36	56					0	0	0.00111076	0	0
VWA2	340706	broad.mit.edu	37	10	116049157	116049157	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:116049157G>A	ENST00000603594.1	+	12	2352	c.2031G>A	c.(2029-2031)agG>agA	p.R677R	VWA2_ENST00000392982.3_Silent_p.R677R	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	677	VWFA 3.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GTCTGCGGAGGCTTGCAGGTC	0.627000													31	4					0	0	0.000814825	0	0
AKAP9	10142	broad.mit.edu	37	7	91714954	91714954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:91714954C>T	ENST00000359028.2	+	36	9215	c.8990C>T	c.(8989-8991)tCt>tTt	p.S2997F	AKAP9_ENST00000358100.2_Missense_Mutation_p.S2943F|AKAP9_ENST00000356239.3_Missense_Mutation_p.S2993F			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2997					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAATCTCATCTCTAAAGGAT	0.353000			T	BRAF	papillary thyroid								23	41					0	0	0.00047179	0	0
TTN	7273	broad.mit.edu	37	2	179615186	179615186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:179615186C>T	ENST00000360870.5	-	46	12163	c.11941G>A	c.(11941-11943)Gac>Aac	p.D3981N	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9797							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)			ATTGGCATGTCATTGTTATAC	0.328000													30	50					0	0	0.00178596	0	0
KIF4B	285643	broad.mit.edu	37	5	154395457	154395457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:154395457C>T	ENST00000435029.4	+	1	2198	c.2038C>T	c.(2038-2040)Cgt>Tgt	p.R680C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	680	Interaction with PRC1 (By similarity).		R -> H (in dbSNP:rs17116710).		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)			AGAACGAGACCGTAAGAGGCA	0.433000													75	43					0	0	0.000781405	0	0
KCNH7	90134	broad.mit.edu	37	2	163374525	163374525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:163374525G>A	ENST00000332142.5	-	4	706	c.607C>T	c.(607-609)Cct>Tct	p.P203S	KCNH7_ENST00000328032.4_Missense_Mutation_p.P203S|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	203					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCTTTTGTAGGAGACTTAAAA	0.443000													43	71					0	0	0.000680045	0	0
OR9G1	390174	broad.mit.edu	37	11	56468464	56468464	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:56468464C>T	ENST00000312153.1	+	1	601	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GATGTACTTCCTGCTGGCCTC	0.512000													17	102					0	0	0.00127121	0	0
KLKB1	3818	broad.mit.edu	37	4	187172454	187172454	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:187172454C>T	ENST00000264690.6	+	8	1027	c.840C>T	c.(838-840)agC>agT	p.S280S	KLKB1_ENST00000513864.1_Silent_p.S280S	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	280	Apple 3.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CTGGATATAGCCTTTTAACCT	0.299000													35	15					0	0	0.00222228	0	0
SNHG14	104472715	broad.mit.edu	37	15	25451265	25451265	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:25451265G>A	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CGTGGCTCTGGGCCAGTGTGC	0.632000													11	6					0	0	0.000673444	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401168	11401168	+	Silent	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:11401168T>C	ENST00000002596.5	-	2	1636	c.462A>G	c.(460-462)ctA>ctG	p.L154L		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	154						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						TGTAGTCAGATAGCACGCGCT	0.587000													15	23					0	0	0.000308642	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8645836	8645836	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:8645836G>A	ENST00000270328.4	-	25	3519	c.3253C>T	c.(3253-3255)Cag>Tag	p.Q1085*	ADAMTS10_ENST00000597188.1_Nonsense_Mutation_p.Q1085*|ADAMTS10_ENST00000595838.1_Nonsense_Mutation_p.Q572*			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	1085	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTGCAGAACTGAAATTTGAGC	0.627000											OREG0025220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	12					0	0	0.000602214	0	0
GANC	2595	broad.mit.edu	37	15	42566701	42566701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:42566701G>A	ENST00000318010.8	+	1	262	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	GANC_ENST00000440615.2_Missense_Mutation_p.E8K|GANC_ENST00000566442.1_Missense_Mutation_p.E8K	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	8					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		AGTGAAAGAGGAAATAAGGTA	0.483000													15	13					0	0	0.000958276	0	0
EGR4	1961	broad.mit.edu	37	2	73518712	73518712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:73518712C>T	ENST00000436467.2	-	2	1721	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	EGR4_ENST00000545030.1_Missense_Mutation_p.R548H			B7ZKU3	B7ZKU3_HUMAN	early growth response 4	444						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGCGAAGCGGCGGCCGCACAC	0.662000													20	29					0	0	0.00229938	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793566	65793566	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:65793566G>A	ENST00000312106.5	-	1	422	c.285C>T	c.(283-285)ggC>ggT	p.G95G		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	95	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CCAGACCAAAGCCTGTGGGGC	0.597000													66	53					0	0	0.000781405	0	0
FAM83B	222584	broad.mit.edu	37	6	54806498	54806498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:54806498G>A	ENST00000306858.7	+	5	2845	c.2729G>A	c.(2728-2730)aGa>aAa	p.R910K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	910										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACCCCTGAAAGAAGACCTACT	0.453000													39	47					0	0	0.00128727	0	0
CREB5	9586	broad.mit.edu	37	7	28452443	28452443	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:28452443G>A	ENST00000357727.2	+	0	300				CREB5_ENST00000396299.2_Intron	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5						positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TAATCTTGCTGGTGAAACAGA	0.358000													122	132					0	0	0.000781405	0	0
NLRP13	126204	broad.mit.edu	37	19	56424369	56424369	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:56424369T>A	ENST00000588751.1	-	5	838	c.814A>T	c.(814-816)Aaa>Taa	p.K272*	NLRP13_ENST00000342929.3_Nonsense_Mutation_p.K272*			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	272	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TACCTTATTTTATGGCAGCTG	0.443000													19	117					0	0	0.00074312	0	0
DNAH5	1767	broad.mit.edu	37	5	13737588	13737588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:13737588C>T	ENST00000265104.4	-	66	11332	c.11228G>A	c.(11227-11229)aGa>aAa	p.R3743K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3743	AAA 5 (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)					CAGATGAGTTCTTTCTTTCTC	0.378000									Kartagener syndrome				36	7					0	0	0.00128727	0	0
MRO	83876	broad.mit.edu	37	18	48333088	48333088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:48333088C>T	ENST00000428869.2	-	5	490	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	MRO_ENST00000256425.2_Missense_Mutation_p.E78K|MRO_ENST00000436348.2_Missense_Mutation_p.E92K|MRO_ENST00000431965.2_Missense_Mutation_p.E92K|MRO_ENST00000587291.1_Intron|MRO_ENST00000588444.1_Missense_Mutation_p.E78K|MRO_ENST00000398439.3_Missense_Mutation_p.E78K			Q9BYG7	MSTRO_HUMAN	maestro	78						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		TCAGGGGCTTCATAGGCCATG	0.547000													61	60					0	0	0.000781405	0	0
UBN1	29855	broad.mit.edu	37	16	4910869	4910869	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:4910869C>T	ENST00000396658.4	+	6	1579	c.876C>T	c.(874-876)ctC>ctT	p.L292L	UBN1_ENST00000590769.1_Silent_p.L292L|UBN1_ENST00000262376.6_Silent_p.L292L|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000545171.1_Silent_p.L292L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	292					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGCTCTCACTCTTTGGCTCTA	0.572000													61	37					0	0	0.000781405	0	0
ZNF831	128611	broad.mit.edu	37	20	57829282	57829282	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:57829282G>A	ENST00000371030.2	+	5	4518	c.4518G>A	c.(4516-4518)caG>caA	p.Q1506Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1506						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACATAGCCCAGGAAATTCACA	0.517000													40	58					0	0	0.00170553	0	0
RP1	6101	broad.mit.edu	37	8	55540655	55540655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:55540655G>A	ENST00000220676.1	+	4	4361	c.4213G>A	c.(4213-4215)Gaa>Aaa	p.E1405K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1405					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)			TTGCCTAAGTGAAAAAGAAGC	0.318000													27	61					0	0	0.000720815	0	0
GUCY2C	2984	broad.mit.edu	37	12	14839148	14839148	+	Silent	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:14839148C>A	ENST00000261170.3	-	3	478	c.342G>T	c.(340-342)cgG>cgT	p.R114R	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	114			R -> Q (in dbSNP:rs56275235).		intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CACAGCCCATCCGTTGTGCAT	0.438000													17	6					3.41278e-10	1.63591e-09	0.000566183	1	0
ZNF480	147657	broad.mit.edu	37	19	52825827	52825827	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:52825827C>T	ENST00000595962.1	+	5	1390	c.1324C>T	c.(1324-1326)Ctt>Ttt	p.L442F	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.L365F|ZNF480_ENST00000334564.7_Missense_Mutation_p.L399F	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GTATTCAGGCCTTTCAGCCCA	0.393000													35	157					0	0	0.00128727	0	0
TOP1	7150	broad.mit.edu	37	20	39741563	39741563	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:39741563A>T	ENST00000361337.2	+	14	1700	c.1450A>T	c.(1450-1452)Aag>Tag	p.K484*	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	484					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	CTTCATCGACAAGGTGAGAGC	0.488000			T	NUP98	AML*								32	24					0	0	0.000491102	0	0
MVB12B	89853	broad.mit.edu	37	9	129154430	129154430	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:129154430C>T	ENST00000361171.3	+	5	576	c.495C>T	c.(493-495)atC>atT	p.I165I	MVB12B_ENST00000535766.1_Silent_p.I158I|MVB12B_ENST00000436593.3_Silent_p.I150I|MVB12B_ENST00000545391.1_Silent_p.I165I	NM_033446.2	NP_258257.1			multivesicular body subunit 12B																		ACATTCGGATCATGGGCCGGA	0.502000													72	10					0	0	0.000781405	0	0
KLHL13	90293	broad.mit.edu	37	X	117043651	117043651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:117043651C>T	ENST00000371876.1	-	4	3247	c.826G>A	c.(826-828)Gtt>Att	p.V276I	KLHL13_ENST00000545703.1_Missense_Mutation_p.V285I|KLHL13_ENST00000540167.1_Missense_Mutation_p.V311I|KLHL13_ENST00000469946.1_Missense_Mutation_p.V276I|KLHL13_ENST00000371878.1_Missense_Mutation_p.V276I|KLHL13_ENST00000371882.1_Missense_Mutation_p.V276I|KLHL13_ENST00000539496.1_Missense_Mutation_p.V330I|KLHL13_ENST00000541812.1_Missense_Mutation_p.V311I|KLHL13_ENST00000262820.3_Missense_Mutation_p.V327I			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	327	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GACTGCATAACTGGCTGCATA	0.453000													38	4					0	0	0.00170553	0	0
HPSE	10855	broad.mit.edu	37	4	84240599	84240599	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:84240599G>A	ENST00000405413.2	-	4	533	c.397C>T	c.(397-399)Cct>Tct	p.P133S	HPSE_ENST00000513463.1_Missense_Mutation_p.P133S|HPSE_ENST00000512196.1_Missense_Mutation_p.P133S|HPSE_ENST00000311412.5_Missense_Mutation_p.P133S	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	133					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	ACATCAGGAGGGATGGATCCA	0.423000													18	36					0	0	0.000958276	0	0
SESTD1	91404	broad.mit.edu	37	2	180041227	180041227	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:180041227T>G	ENST00000428443.3	-	4	519	c.203A>C	c.(202-204)gAt>gCt	p.D68A	SESTD1_ENST00000486468.1_5'UTR	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	68	CRAL-TRIO.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTTCTGCCATCCACAATCAC	0.348000													16	26					0	0	0.000566183	0	0
MUC16	94025	broad.mit.edu	37	19	9076487	9076487	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9076487C>T	ENST00000397910.4	-	3	11162	c.10959G>A	c.(10957-10959)aaG>aaA	p.K3653K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3654	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						TGGTCTCTGTCTTTACAGCTG	0.473000													17	41					0	0	0.000422831	0	0
LPP	4026	broad.mit.edu	37	3	188584049	188584049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:188584049C>T	ENST00000312675.4	+	9	1718	c.1472C>T	c.(1471-1473)aCc>aTc	p.T491I	LPP_ENST00000543006.1_Missense_Mutation_p.T491I	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	491	LIM zinc-binding 2.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CTCCGAGCCACCGGGAAGGCC	0.562000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								43	62					0	0	0.000680045	0	0
PCLO	27445	broad.mit.edu	37	7	82584101	82584101	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:82584101C>T	ENST00000423517.2	-	5	6505	c.6168G>A	c.(6166-6168)agG>agA	p.R2056R	PCLO_ENST00000333891.8_Silent_p.R2056R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1987					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTAGTAGTTTCCTTTCTTCTT	0.448000													15	84					0	0	0.000219431	0	0
ARID5A	10865	broad.mit.edu	37	2	97217808	97217808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:97217808C>T	ENST00000454558.2	+	7	2516	c.1339C>T	c.(1339-1341)Ccg>Tcg	p.P447S	ARID5A_ENST00000357485.3_Missense_Mutation_p.P515S			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	515					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CACTGGCACCCCGGGCCCCTT	0.721000													29	19					0	0	0.00127121	0	0
ZNF528	84436	broad.mit.edu	37	19	52918976	52918976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:52918976C>T	ENST00000360465.3	+	7	1297	c.871C>T	c.(871-873)Cat>Tat	p.H291Y	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCAAAGAATTCATACTGGAGA	0.378000													90	88					0	0	0.000781405	0	0
FZD2	2535	broad.mit.edu	37	17	42636136	42636136	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:42636136G>A	ENST00000315323.3	+	1	1212	c.1080G>A	c.(1078-1080)tgG>tgA	p.W360*		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	360					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCATGAAGTGGGGCCACGAGG	0.622000													50	34					0	0	0.000781405	0	0
ANO3	63982	broad.mit.edu	37	11	26569067	26569067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:26569067G>A	ENST00000256737.3	+	12	2111	c.1259G>A	c.(1258-1260)gGa>gAa	p.G420E	ANO3_ENST00000531568.1_Missense_Mutation_p.G274E|ANO3_ENST00000525139.1_Missense_Mutation_p.G404E|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000537978.1_Missense_Mutation_p.G404E	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	420						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTCTTCTATGGATTATTTACA	0.348000													63	69					0	0	0.000781405	0	0
TSPAN17	26262	broad.mit.edu	37	5	176084625	176084625	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:176084625C>T	ENST00000310032.8	+	9	1154	c.925C>T	c.(925-927)Ccg>Tcg	p.P309S	TSPAN17_ENST00000405525.2_3'UTR|TSPAN17_ENST00000298564.10_3'UTR|TSPAN17_ENST00000503045.1_Missense_Mutation_p.P286S|TSPAN17_ENST00000508164.1_Missense_Mutation_p.P306S|TSPAN17_ENST00000515708.1_3'UTR	NM_012171.2|NM_130465.4	NP_036303.1|NP_569732.2	Q96FV3	TSN17_HUMAN	tetraspanin 17	161						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ggcccctggcccggccccacc	0.532000													6	20					0	0	0.000157383	0	0
SP100	6672	broad.mit.edu	37	2	231314285	231314285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:231314285C>T	ENST00000264052.5	+	7	951	c.596C>T	c.(595-597)cCa>cTa	p.P199L	SP100_ENST00000340126.4_Missense_Mutation_p.P199L|SP100_ENST00000409112.1_Missense_Mutation_p.P199L|SP100_ENST00000341950.4_Missense_Mutation_p.P199L|SP100_ENST00000427101.2_Missense_Mutation_p.P174L|SP100_ENST00000409341.1_Missense_Mutation_p.P199L|SP100_ENST00000409897.1_Missense_Mutation_p.P164L|SP100_ENST00000409824.1_Missense_Mutation_p.P174L	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	199					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGTACAACCCCACCTGAAAAT	0.473000													21	36					0	0	0.000720815	0	0
CDR1	1038	broad.mit.edu	37	X	139865906	139865906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:139865906G>A	ENST00000370532.2	-	1	817	c.626C>T	c.(625-627)tCc>tTc	p.S209F		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	209										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				ACATCTTCCGGAAAAAATCCA	0.443000													51	7					0	0	0.000781405	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77191241	77191241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:77191241C>T	ENST00000426126.2	+	2	770	c.121C>T	c.(121-123)Cat>Tat	p.H41Y	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.H41Y|ZDHHC17_ENST00000359019.4_Intron	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	41					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						CCATTATAACCATGGATATGG	0.343000													17	10					0	0	0.000958276	0	0
TRPM4	54795	broad.mit.edu	37	19	49671183	49671183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:49671183C>T	ENST00000252826.5	+	4	403	c.277C>T	c.(277-279)Ctc>Ttc	p.L93F	TRPM4_ENST00000427978.2_Missense_Mutation_p.L93F|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	93					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GTTCCTCCGGCTCTCTGACCG	0.637000													83	76					0	0	0.000781405	0	0
CUL9	23113	broad.mit.edu	37	6	43166404	43166404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:43166404C>T	ENST00000252050.4	+	12	2945	c.2861C>T	c.(2860-2862)tCc>tTc	p.S954F	CUL9_ENST00000354495.3_Missense_Mutation_p.S844F|CUL9_ENST00000372647.2_Missense_Mutation_p.S954F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	954					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTGATTCGATCCCTGGTTGGG	0.612000													75	88					0	0	0.000781405	0	0
NLRP10	338322	broad.mit.edu	37	11	7981867	7981867	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:7981867G>A	ENST00000328600.2	-	2	1453	c.1292C>T	c.(1291-1293)gCt>gTt	p.A431V		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	431	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTGAGCTCAGCTTCTTCAAA	0.527000													30	38					0	0	0.000491102	0	0
MYOM3	127294	broad.mit.edu	37	1	24426247	24426247	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:24426247C>T	ENST00000330966.7	-	6	744	c.582G>A	c.(580-582)cgG>cgA	p.R194R	MYOM3_ENST00000329601.7_Silent_p.R193R|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Silent_p.R193R			Q5VTT5	MYOM3_HUMAN	myomesin 3	193	Ig-like C2-type 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGGGATCAATCCGTGTGTCAT	0.567000													14	50					0	0	0.00074312	0	0
CSF1R	1436	broad.mit.edu	37	5	149435634	149435634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:149435634C>T	ENST00000286301.3	-	19	2800	c.2509G>A	c.(2509-2511)Gac>Aac	p.D837N		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	837	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GACCAGACGTCGCTCTGAACC	0.612000													10	33					0	0	0.000442599	0	0
APLNR	187	broad.mit.edu	37	11	57004301	57004301	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:57004301T>C	ENST00000606794.1	-	1	374	c.178A>G	c.(178-180)Aag>Gag	p.K60E		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	60						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GAGCGCCTCTTCTCCCGGCTG	0.622000													25	14					0	0	0.000720815	0	0
PLCXD1	55344	broad.mit.edu	37	X	205506	205506	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:205506C>T	ENST00000381657.2	+	3	748	c.234C>T	c.(232-234)cgC>cgT	p.R78R	PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000399012.1_Silent_p.R78R|PLCXD1_ENST00000381663.3_Silent_p.R78R	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	78	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCATCACGCGCCCTGTCGTGC	0.632000													32	8					0	0	0.000491102	0	0
PKNOX2	63876	broad.mit.edu	37	11	125221269	125221269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:125221269C>T	ENST00000298282.9	+	4	339	c.68C>T	c.(67-69)cCc>cTc	p.P23L	PKNOX2_ENST00000530517.1_Intron|PKNOX2_ENST00000542175.1_Missense_Mutation_p.P6S	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	23	Poly-Pro.					nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCGCCCCCACCCTACCAGGAC	0.657000													8	0					0	0	0.000442599	0	0
TSIX	9383	broad.mit.edu	37	X	73046495	73046495	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:73046495C>T	ENST00000604411.1	+	0	34456				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CTTGGGATTTCCCCAGGTCTT	0.443000													53	6					0	0	0.000781405	0	0
A2M	2	broad.mit.edu	37	12	9248273	9248273	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:9248273C>T	ENST00000318602.7	-	16	2182	c.1875G>A	c.(1873-1875)aaG>aaA	p.K625K		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	625					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CAGTGAGGTCCTTTTCTGGTA	0.353000													35	76					0	0	0.00128727	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19713846	19713846	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:19713846C>T	ENST00000397821.3	-	5	694	c.404G>A	c.(403-405)tGg>tAg	p.W135*	SH3KBP1_ENST00000379697.3_Nonsense_Mutation_p.W135*|SH3KBP1_ENST00000379698.4_Nonsense_Mutation_p.W98*	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	135	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						ACCTTCCCACCATCCTTCCTC	0.473000													36	2					0	0	0.000692331	0	0
FN1	2335	broad.mit.edu	37	2	216251457	216251457	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:216251457T>A	ENST00000354785.4	-	28	4936	c.4567A>T	c.(4567-4569)Aat>Tat	p.N1523Y	FN1_ENST00000357867.4_Missense_Mutation_p.N1432Y|FN1_ENST00000359671.1_Missense_Mutation_p.N1432Y|FN1_ENST00000346544.3_Missense_Mutation_p.N1432Y|FN1_ENST00000345488.5_Missense_Mutation_p.N1432Y|FN1_ENST00000336916.4_Missense_Mutation_p.N1432Y|FN1_ENST00000323926.6_Missense_Mutation_p.N1523Y|FN1_ENST00000421182.1_Missense_Mutation_p.N1432Y|FN1_ENST00000446046.1_Missense_Mutation_p.N1432Y|FN1_ENST00000443816.1_Missense_Mutation_p.N1432Y|FN1_ENST00000357009.2_Missense_Mutation_p.N1432Y|FN1_ENST00000432072.2_Missense_Mutation_p.N1523Y|FN1_ENST00000356005.4_Missense_Mutation_p.N1432Y			P02751	FINC_HUMAN	fibronectin 1	1522	Cell-attachment.|Fibronectin type-III 10.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTCTGCCATTAAGAGCAACG	0.488000													16	36					0	0	0.000566183	0	0
KCND2	3751	broad.mit.edu	37	7	119915781	119915781	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:119915781C>T	ENST00000331113.4	+	1	2060	c.1095C>T	c.(1093-1095)atC>atT	p.I365I		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	365					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGTATACCATCGTCACCATGA	0.507000													12	79					0	0	0.000219431	0	0
KCNA3	3738	broad.mit.edu	37	1	111216889	111216889	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:111216889G>A	ENST00000369769.2	-	1	766	c.543C>T	c.(541-543)tcC>tcT	p.S181S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	181						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGATCTCCTCGGAGAAAATGT	0.667000													24	108					0	0	0.000878237	0	0
MTF1	4520	broad.mit.edu	37	1	38323218	38323218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:38323218G>A	ENST00000373036.4	-	2	253	c.113C>T	c.(112-114)tCc>tTc	p.S38F	MTF1_ENST00000468190.1_5'UTR	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	38						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCAGATGAGGAAGGCACCAG	0.478000													26	72					0	0	0.00127121	0	0
CATSPER1	117144	broad.mit.edu	37	11	65790384	65790384	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:65790384G>A	ENST00000312106.5	-	2	1502	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	455					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGCAGACAACGAAGAAGATGA	0.552000											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	61					0	0	0.00152264	0	0
CUL3	8452	broad.mit.edu	37	2	225360606	225360606	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:225360606G>A	ENST00000264414.4	-	13	2123	c.1785C>T	c.(1783-1785)tcC>tcT	p.S595S	CUL3_ENST00000409777.1_Silent_p.S571S|CUL3_ENST00000344951.4_Silent_p.S529S|CUL3_ENST00000409096.1_Silent_p.S571S	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	595					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCTGGAAAGTGGAAACTTGCA	0.328000													59	47					0	0	0.000781405	0	0
DNAH7	56171	broad.mit.edu	37	2	196822153	196822153	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:196822153G>A	ENST00000312428.6	-	19	3010	c.2910C>T	c.(2908-2910)ctC>ctT	p.L970L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	970	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAAGCAGTAGGAGCTTGCCCT	0.458000													23	22					0	0	0.000586117	0	0
NPAT	4863	broad.mit.edu	37	11	108031638	108031638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:108031638G>A	ENST00000278612.8	-	17	4280	c.4175C>T	c.(4174-4176)tCa>tTa	p.S1392L		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1392					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGTATTGATGAATTTGTAAG	0.338000													24	0					0	0	0.000586117	0	0
HTR3A	3359	broad.mit.edu	37	11	113857256	113857256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:113857256G>A	ENST00000504030.2	+	7	1167	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	HTR3A_ENST00000506841.2_Missense_Mutation_p.R241Q|HTR3A_ENST00000299961.5_Missense_Mutation_p.R226Q|HTR3A_ENST00000375498.2_Missense_Mutation_p.R247Q|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000355556.2_Missense_Mutation_p.R247Q			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	241					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	ATCCGCCGGCGGCCCCTCTTC	0.612000													46	8					0	0	0.000781405	0	0
CACNA1G	8913	broad.mit.edu	37	17	48703397	48703397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:48703397C>T	ENST00000352832.5	+	34	6410	c.6038C>T	c.(6037-6039)tCc>tTc	p.S2013F	CACNA1G_ENST00000514079.1_Missense_Mutation_p.S2054F|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S2024F|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S2040F|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S2029F|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S2106F|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S2006F|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S2095F|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S2084F|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S2129F|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S2077F|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S2061F|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S2013F|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S2013F|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1990F|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S2047F|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S2002F|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S2036F|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S1995F|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S2069F|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S2140F|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S2022F|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S2036F|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S2047F|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S2050F	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2140					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGACTGACTCCTTGGACGTT	0.652000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	31					0	0	0.000589545	0	0
TJP3	27134	broad.mit.edu	37	19	3733818	3733818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:3733818G>A	ENST00000541714.2	+	7	1247	c.785G>A	c.(784-786)gGg>gAg	p.G262E	TJP3_ENST00000262968.9_Missense_Mutation_p.G281E|TJP3_ENST00000539908.2_Missense_Mutation_p.G226E|TJP3_ENST00000589378.1_Missense_Mutation_p.G271E|TJP3_ENST00000382008.3_Missense_Mutation_p.G262E|TJP3_ENST00000587686.1_Missense_Mutation_p.G281E	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	262	PDZ 2.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGTCAGAAGGGAAGCTAAGC	0.562000													44	81					0	0	0.00170553	0	0
IBSP	3381	broad.mit.edu	37	4	88731890	88731890	+	Silent	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:88731890T>C	ENST00000226284.5	+	6	446	c.379T>C	c.(379-381)Tta>Cta	p.L127L		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	127	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GTATACAGGGTTAGCTGCAAT	0.403000													25	26					0	0	0.000878237	0	0
EPPK1	83481	broad.mit.edu	37	8	144942631	144942631	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:144942631C>T	ENST00000525985.1	-	2	4862	c.4791G>A	c.(4789-4791)cgG>cgA	p.R1597R				P58107	EPIPL_HUMAN	epiplakin 1	1597						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)			CTGTGCCAGGCCGCAGGATGT	0.642000													25	19					0	0	0.000586117	0	0
SFRP2	6423	broad.mit.edu	37	4	154709599	154709599	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:154709599G>A	ENST00000274063.4	-	1	673	c.389C>T	c.(388-390)tCc>tTc	p.S130F		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	130	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GCCGAAGGCGGACATGACCGG	0.652000													26	9					0	0	0.000878237	0	0
FLT1	2321	broad.mit.edu	37	13	28919595	28919595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:28919595C>T	ENST00000282397.4	-	16	2593	c.2342G>A	c.(2341-2343)cGa>cAa	p.R781Q	FLT1_ENST00000540678.1_5'UTR	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	781			R -> Q (in a glioma low grade oligodendroglioma sample; somatic mutation).		cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.R781Q(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTTCATTTTTCGGATAAAGAG	0.423000													4	15					0	0	0.00024832	0	0
RGPD4	285190	broad.mit.edu	37	2	108507182	108507182	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:108507182G>A	ENST00000408999.3	+	23	5349	c.5272G>A	c.(5272-5274)Gaa>Aaa	p.E1758K		NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1758					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAAAGGTGAGGAATAAAATGC	0.303000													21	26					0	0	0.00106085	0	0
ADCY3	109	broad.mit.edu	37	2	25141596	25141596	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:25141596G>A	ENST00000260600.5	-	1	1112	c.261C>T	c.(259-261)ctC>ctT	p.L87L		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	87					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGCAGTCAAAGAGGGCTGCAA	0.577000													55	27					0	0	0.000781405	0	0
SFSWAP	6433	broad.mit.edu	37	12	132209997	132209997	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:132209997C>T	ENST00000261674.4	+	5	795	c.654C>T	c.(652-654)ttC>ttT	p.F218F	SFSWAP_ENST00000541286.1_Silent_p.F218F	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	218					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CGGCCAGCTTCGTGTGCAGGC	0.562000													15	46					0	0	0.00121646	0	0
FAM83E	54854	broad.mit.edu	37	19	49107042	49107042	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:49107042G>A	ENST00000263266.3	-	4	1074	c.885C>T	c.(883-885)ccC>ccT	p.P295P		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	295										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GTTTCTGGGGGGGCGCAGGTG	0.721000													7	5					0	0	0.00198382	0	0
NCALD	83988	broad.mit.edu	37	8	102701627	102701627	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:102701627G>A	ENST00000395923.1	-	6	951	c.492C>T	c.(490-492)ctC>ctT	p.L164L	NCALD_ENST00000311028.3_Silent_p.L164L|NCALD_ENST00000522951.1_Intron|NCALD_ENST00000220931.6_Silent_p.L164L|NCALD_ENST00000519508.2_Silent_p.L164L|NCALD_ENST00000521599.1_Silent_p.L164L	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	164	EF-hand 4.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CTTCCAGGGAGAGTTTTCCTA	0.607000													9	10					0	0	0.000274275	0	0
TXNRD1	7296	broad.mit.edu	37	12	104713318	104713318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:104713318C>T	ENST00000526691.1	+	7	1106	c.650C>T	c.(649-651)cCa>cTa	p.P217L	TXNRD1_ENST00000525566.1_Missense_Mutation_p.P315L|TXNRD1_ENST00000503506.2_Missense_Mutation_p.P165L|TXNRD1_ENST00000429002.2_Missense_Mutation_p.P315L|TXNRD1_ENST00000427956.1_Missense_Mutation_p.P280L|TXNRD1_ENST00000397736.2_Missense_Mutation_p.P209L|TXNRD1_ENST00000388854.3_Missense_Mutation_p.P217L|TXNRD1_ENST00000378070.4_Missense_Mutation_p.P264L|TXNRD1_ENST00000524698.1_Missense_Mutation_p.P165L|TXNRD1_ENST00000354940.6_Missense_Mutation_p.P165L|TXNRD1_ENST00000542918.1_Missense_Mutation_p.P215L|TXNRD1_ENST00000540716.1_Missense_Mutation_p.P127L|TXNRD1_ENST00000529546.1_Missense_Mutation_p.P127L|TXNRD1_ENST00000526950.1_Missense_Mutation_p.P234L|TXNRD1_ENST00000526390.1_Missense_Mutation_p.P209L	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	315					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GGTGAAAGACCACGTTACTTG	0.388000													8	7					0	0	0.000673444	0	0
OR13C5	138799	broad.mit.edu	37	9	107361416	107361416	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:107361416G>A	ENST00000374779.2	-	1	372	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AGCCAGAAAGGGAAATGGTCT	0.517000													14	2					0	0	0.000422831	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29907160	29907160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:29907160G>A	ENST00000308713.5	-	4	1060	c.533C>T	c.(532-534)tCc>tTc	p.S178F	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.S108F|SEZ6L2_ENST00000562159.1_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.S134F|SEZ6L2_ENST00000346932.5_Intron	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	178	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCGCCCTCGGAGATGTTGTT	0.562000													36	27					0	0	0.000509022	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32974859	32974859	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:32974859G>A	ENST00000229829.5	-	4	822	c.747C>T	c.(745-747)ccC>ccT	p.P249P	HLA-DOA_ENST00000450833.2_Intron	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	249					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CTCTGCACCTGGGGACACTGG	0.612000													62	61					0	0	0.000781405	0	0
SCNN1A	6337	broad.mit.edu	37	12	6463683	6463683	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:6463683C>T	ENST00000358945.3	-	7	1721	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K	SCNN1A_ENST00000360168.3_Silent_p.K486K|SCNN1A_ENST00000396966.2_Silent_p.K427K|SCNN1A_ENST00000543768.1_Silent_p.K450K|SCNN1A_ENST00000538979.1_5'UTR|SCNN1A_ENST00000540037.1_Silent_p.K127K|SCNN1A_ENST00000228916.2_Silent_p.K427K			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	427					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	AGCCACACTCCTTGATCATGC	0.577000													24	11					0	0	0.000375601	0	0
FPR3	2359	broad.mit.edu	37	19	52327322	52327322	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:52327322C>T	ENST00000339223.4	+	2	500	c.321C>T	c.(319-321)atC>atT	p.I107I	FPR3_ENST00000595991.1_Silent_p.I107I	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	107					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TGATAGACATCAACCTGTTTG	0.478000													11	88					0	0	0.00136819	0	0
EDARADD	128178	broad.mit.edu	37	1	236645630	236645630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:236645630C>T	ENST00000359362.5	+	6	513	c.299C>T	c.(298-300)cCc>cTc	p.P100L	EDARADD_ENST00000334232.4_Missense_Mutation_p.P110L	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	110					cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTCCGGGCCCCCACCATAAGT	0.478000													41	20					0	0	0.00222228	0	0
POU5F1	5460	broad.mit.edu	37	6	31138066	31138066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:31138066G>A	ENST00000259915.8	-	1	404	c.332C>T	c.(331-333)tCc>tTc	p.S111F	POU5F1_ENST00000441888.3_Intron	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	111					anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						GGGCTCCGGGGAGGCCCCATC	0.662000			T	EWSR1	sarcoma								21	25					0	0	0.00152264	0	0
TPD52	7163	broad.mit.edu	37	8	80962685	80962685	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:80962685G>A	ENST00000518937.1	-	5	623	c.408C>T	c.(406-408)tcC>tcT	p.S136S	TPD52_ENST00000520527.1_Silent_p.S176S|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000537855.1_Intron|TPD52_ENST00000523395.1_Intron|TPD52_ENST00000379096.5_Intron|TPD52_ENST00000448733.2_Intron|TPD52_ENST00000379097.3_Intron|TPD52_ENST00000517427.1_Silent_p.S176S	NM_001025253.1	NP_001020424.1	P55327	TPD52_HUMAN	tumor protein D52	169					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			CTTACCTAAAGGAATGTGAAA	0.348000													15	11					0	0	0.00074312	0	0
DMD	1756	broad.mit.edu	37	X	31222096	31222096	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:31222096G>A	ENST00000357033.4	-	67	9995	c.9789C>T	c.(9787-9789)gtC>gtT	p.V3263V	DMD_ENST00000541735.1_Silent_p.V803V|DMD_ENST00000378677.2_Silent_p.V3259V|DMD_ENST00000378707.3_Silent_p.V803V|DMD_ENST00000378702.4_Silent_p.V195V|DMD_ENST00000343523.2_Silent_p.V803V|DMD_ENST00000378723.3_Silent_p.V195V|DMD_ENST00000474231.1_Silent_p.V803V|DMD_ENST00000378680.2_Silent_p.V195V|DMD_ENST00000361471.4_Silent_p.V195V|DMD_ENST00000359836.1_Silent_p.V803V	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3263	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGCAGCTCCGGACACTTGGCT	0.413000													30	1					0	0	0.000692331	0	0
ZNF385C	201181	broad.mit.edu	37	17	40180127	40180127	+	Missense_Mutation	SNP	G	G	A	rs147945853		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:40180127G>A	ENST00000436535.3	-	6	1108	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	ZNF385C_ENST00000461831.1_5'UTR					zinc finger protein 385C											lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	3		all_cancers(22;0.00127)|Breast(137;0.00104)|all_epithelial(22;0.0126)				TGGAAGGCAGGGCTGGGCCCC	0.682000													53	3					0	0	0.000781405	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40259920	40259920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:40259920C>T	ENST00000263791.5	+	9	1436	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.R465C|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.R465C	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	465	Protein kinase 1.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	p.R465C(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AACCCGAGTTCGTTTTAGTGA	0.498000													44	52					0	0	0.000781405	0	0
SLC9C2	284525	broad.mit.edu	37	1	173523904	173523904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:173523904G>A	ENST00000367714.3	-	11	1687	c.1265C>T	c.(1264-1266)tCa>tTa	p.S422L	SLC9C2_ENST00000536496.1_Missense_Mutation_p.S320L|SLC9C2_ENST00000466087.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	422					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CATCACGTATGAATTTATTCC	0.323000													40	121					0	0	0.000781405	0	0
KIAA1033	23325	broad.mit.edu	37	12	105514922	105514922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:105514922C>T	ENST00000332180.5	+	9	692	c.605C>T	c.(604-606)aCc>aTc	p.T202I		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	202					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GTTTTGCTCACCCTGGATGAA	0.328000													7	41					0	0	0.000442599	0	0
PXDN	7837	broad.mit.edu	37	2	1652195	1652195	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:1652195C>T	ENST00000252804.4	-	17	3407	c.3357G>A	c.(3355-3357)agG>agA	p.R1119R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1119					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGAACAGCCCCCTGAGAAGCG	0.597000													13	25					0	0	0.00185496	0	0
ADH4	127	broad.mit.edu	37	4	100063877	100063877	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:100063877C>T	ENST00000508393.1	-	3	295	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	ADH4_ENST00000265512.7_Missense_Mutation_p.E25K|ADH4_ENST00000423445.1_Missense_Mutation_p.E44K|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000505590.1_Missense_Mutation_p.E44K			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	25					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	TCAACCTCTTCAATGCAAAGG	0.493000													23	27					0	0	0.00106085	0	0
FAM83B	222584	broad.mit.edu	37	6	54805566	54805566	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:54805566C>T	ENST00000306858.7	+	5	1913	c.1797C>T	c.(1795-1797)atC>atT	p.I599I		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	599										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CAGAATCAATCCCCAAGCTCC	0.473000													29	30					0	0	0.00178596	0	0
SUCLG2	8801	broad.mit.edu	37	3	67426209	67426209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:67426209C>T	ENST00000307227.5	-	11	1285	c.1258G>A	c.(1258-1260)Gat>Aat	p.D420N	SUCLG2_ENST00000493112.1_Intron	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	420					succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TTGGCTGCATCCTCCAGGTCA	0.502000													17	6					0	0	0.00152264	0	0
RBP2	5948	broad.mit.edu	37	3	139181108	139181108	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:139181108A>G	ENST00000232217.2	-	2	154	c.98T>C	c.(97-99)aTt>aCt	p.I33T	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	33					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	ACGTACTGCAATCTTGCGGGT	0.418000													50	51					0	0	0.000781405	0	0
ATP1A3	478	broad.mit.edu	37	19	42474558	42474558	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:42474558G>A	ENST00000545399.1	-	17	2592	c.2439C>T	c.(2437-2439)atC>atT	p.I813I	ATP1A3_ENST00000543770.1_Silent_p.I811I|ATP1A3_ENST00000602133.1_Silent_p.I770I|ATP1A3_ENST00000302102.5_Silent_p.I800I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	800					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGCCCAGATCGATGCAGAGGA	0.647000													15	14					0	0	0.000422831	0	0
MYO5B	4645	broad.mit.edu	37	18	47463690	47463690	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:47463690C>T	ENST00000285039.7	-	15	2129	c.1830G>A	c.(1828-1830)tcG>tcA	p.S610S		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	610	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CGCTGATCTTCGAAGATGACC	0.532000													33	61					0	0	0.000692331	0	0
FLNC	2318	broad.mit.edu	37	7	128483517	128483517	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:128483517G>A	ENST00000325888.8	+	18	2958	c.2697G>A	c.(2695-2697)aaG>aaA	p.K899K	FLNC_ENST00000346177.6_Silent_p.K899K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	899					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGCCGGCAAGGCCAAGCTGG	0.582000													17	37					0	0	0.00074312	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171024	207171024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:207171024C>T	ENST00000374423.3	+	5	2158	c.1772C>T	c.(1771-1773)tCa>tTa	p.S591L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	591							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCTCTTGAGTCAGTAGTTGAT	0.403000													15	22					0	0	0.000308642	0	0
TTI1	9675	broad.mit.edu	37	20	36624820	36624820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:36624820G>A	ENST00000373448.2	-	8	3281	c.3043C>T	c.(3043-3045)Ctc>Ttc	p.L1015F	TTI1_ENST00000449821.1_Missense_Mutation_p.L1015F|TTI1_ENST00000373447.3_Missense_Mutation_p.L1015F	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	1015							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TTGACACTGAGGTAAATCAAG	0.453000													31	87					0	0	0.00170553	0	0
IFNB1	3456	broad.mit.edu	37	9	21077570	21077570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:21077570C>T	ENST00000380232.2	-	1	373	c.299G>A	c.(298-300)tGg>tAg	p.W100*		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	100					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	AGTCTCATTCCAGCCAGTGCT	0.443000													71	9					0	0	0.000781405	0	0
MYRF	745	broad.mit.edu	37	11	61543821	61543821	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:61543821G>A	ENST00000278836.5	+	10	1512	c.1416G>A	c.(1414-1416)acG>acA	p.T472T	MYRF_ENST00000327797.1_Silent_p.T97T|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.T463T	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		AGCAGGTCACGAAGGTGACTG	0.657000											OREG0021012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	6					0	0	0.000442599	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656542	40656542	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:40656542C>T	ENST00000406785.1	-	2	1068	c.879G>A	c.(877-879)ggG>ggA	p.G293G	SLC8A1_ENST00000405269.1_Silent_p.G293G|SLC8A1_ENST00000542756.1_Silent_p.G293G|SLC8A1_ENST00000542024.1_Silent_p.G293G|SLC8A1_ENST00000405901.3_Silent_p.G293G|SLC8A1_ENST00000403092.1_Silent_p.G293G|SLC8A1_ENST00000402441.1_Silent_p.G293G|SLC8A1_ENST00000408028.2_Silent_p.G293G|SLC8A1_ENST00000332839.4_Silent_p.G293G|SLC8A1_ENST00000406391.2_Silent_p.G293G			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	293					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGACCACTTTCCCGTCCATTT	0.448000													101	84					0	0	0.000781405	0	0
THSD7B	80731	broad.mit.edu	37	2	137814319	137814319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:137814319G>A	ENST00000409968.1	+	3	647	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	THSD7B_ENST00000543459.1_Missense_Mutation_p.E16K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E157K|THSD7B_ENST00000413152.2_Missense_Mutation_p.E126K					thrombospondin, type I, domain containing 7B											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)		GGTTGCAAATGAAATATGCGA	0.522000													57	76					0	0	0.000781405	0	0
OR9A4	130075	broad.mit.edu	37	7	141619558	141619558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141619558G>A	ENST00000548136.1	+	1	942	c.883G>A	c.(883-885)Gat>Aat	p.D295N	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CCTCCGGAATGATAAAGTCAT	0.458000													84	33					0	0	0.000781405	0	0
TEX15	56154	broad.mit.edu	37	8	30705720	30705720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:30705720G>A	ENST00000256246.2	-	1	888	c.814C>T	c.(814-816)Cca>Tca	p.P272S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	272										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTATCTATTGGACTGATTTTT	0.313000													17	63					0	0	0.00121646	0	0
CYTIP	9595	broad.mit.edu	37	2	158283904	158283904	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:158283904G>A	ENST00000264192.3	-	6	626	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	CYTIP_ENST00000540637.1_Silent_p.L63L	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	169	Interaction with CYTH1.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GTTCTTTTCAGAATCATTGTT	0.353000													20	22					0	0	0.00229938	0	0
MUC16	94025	broad.mit.edu	37	19	9056795	9056795	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9056795G>A	ENST00000397910.4	-	3	30854	c.30651C>T	c.(30649-30651)gcC>gcT	p.A10217A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10219	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATACTGTGAGGCTGGAGGCC	0.468000													21	44					0	0	0.00188189	0	0
TDRP	157695	broad.mit.edu	37	8	442449	442449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:442449G>A	ENST00000324079.6	-	3	748	c.508C>T	c.(508-510)Cga>Tga	p.R170*	TDRP_ENST00000523656.1_Intron|TDRP_ENST00000427263.2_Intron					testis development related protein																		CTCTGCCGTCGGATGCTCACC	0.642000													14	7					0	0	0.000422831	0	0
CKAP5	9793	broad.mit.edu	37	11	46766034	46766034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:46766034G>A	ENST00000529230.1	-	43	5844	c.5798C>T	c.(5797-5799)tCt>tTt	p.S1933F	CKAP5_ENST00000354558.3_Missense_Mutation_p.S1873F|CKAP5_ENST00000415402.1_Missense_Mutation_p.S1940F|CKAP5_ENST00000312055.5_Missense_Mutation_p.S1873F			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1933					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CAAGTAGACAGATGGCCCCAC	0.522000													28	67					0	0	0.000720815	0	0
LAMA1	284217	broad.mit.edu	37	18	6956713	6956713	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:6956713G>A	ENST00000389658.3	-	56	8109	c.8016C>T	c.(8014-8016)acC>acT	p.T2672T	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2672	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACAGCCAGCAGGTGTCCAGGT	0.502000													52	9					0	0	0.000781405	0	0
AMZ1	155185	broad.mit.edu	37	7	2749363	2749363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:2749363G>A	ENST00000407112.1	+	5	1004	c.691G>A	c.(691-693)Ggc>Agc	p.G231S	AMZ1_ENST00000312371.4_Silent_p.E287E|AMZ1_ENST00000489665.1_3'UTR			Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	227							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GCCTGGACGAGGCCCTGCGGC	0.667000											OREG0017838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	27					0	0	0.000375601	0	0
NWD1	284434	broad.mit.edu	37	19	16870130	16870130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:16870130G>A	ENST00000524140.2	+	7	2282	c.1864G>A	c.(1864-1866)Gag>Aag	p.E622K	NWD1_ENST00000552788.1_Missense_Mutation_p.E622K|NWD1_ENST00000549814.1_Missense_Mutation_p.E622K|NWD1_ENST00000523826.1_Missense_Mutation_p.E416K|NWD1_ENST00000339803.6_Missense_Mutation_p.E487K|NWD1_ENST00000379808.3_Missense_Mutation_p.E622K	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	622	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCCAGCAAGGAGCTGCTGCG	0.642000													7	25					0	0	0.000157383	0	0
GRIK1	2897	broad.mit.edu	37	21	30949459	30949459	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:30949459C>A	ENST00000399914.1	-	13	2431	c.1910G>T	c.(1909-1911)gGa>gTa	p.G637V	GRIK1_ENST00000399913.1_Missense_Mutation_p.G652V|GRIK1_ENST00000535441.1_Missense_Mutation_p.G654V|GRIK1_ENST00000389125.3_Missense_Mutation_p.G637V|GRIK1_ENST00000389124.2_Missense_Mutation_p.G652V|GRIK1_ENST00000309434.7_Missense_Mutation_p.G654V|GRIK1_ENST00000399907.1_Missense_Mutation_p.G652V|GRIK1_ENST00000399909.1_Missense_Mutation_p.G637V|GRIK1_ENST00000327783.4_Missense_Mutation_p.G652V			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	652					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CCATATCCCTCCAACTATTCT	0.458000													24	72					7.92952e-12	3.80737e-11	0.000586117	1	0
PRR12	57479	broad.mit.edu	37	19	50098089	50098089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:50098089C>T	ENST00000418929.2	+	4	509	c.497C>T	c.(496-498)tCg>tTg	p.S166L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	579	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCAGTGCCCTCGTCCCTCAGC	0.672000													7	31					0	0	0.00198382	0	0
TTF1	7270	broad.mit.edu	37	9	135266135	135266135	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:135266135G>A	ENST00000334270.2	-	7	2110	c.2071C>T	c.(2071-2073)Ccc>Tcc	p.P691S		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	691	Myb-like 2.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		AACTCCTGGGGAGACATCTTC	0.408000													97	19					0	0	0.000781405	0	0
SOGA1	140710	broad.mit.edu	37	20	35422902	35422902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:35422902G>A	ENST00000237536.4	-	14	3924	c.3583C>T	c.(3583-3585)Cct>Tct	p.P1195S	SOGA1_ENST00000357779.3_Missense_Mutation_p.P957S|SOGA1_ENST00000279034.5_Missense_Mutation_p.P957S|SOGA1_ENST00000456801.2_Missense_Mutation_p.P798S	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	957										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCAAAGGCAGGGTTGTTAGGC	0.557000													50	157					0	0	0.000781405	0	0
SLC12A8	84561	broad.mit.edu	37	3	124906251	124906251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:124906251C>T	ENST00000423114.2	-	4	306	c.307G>A	c.(307-309)Ggc>Agc	p.G103S	SLC12A8_ENST00000393469.4_Missense_Mutation_p.G74S|SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.G74S			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	74					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						AGGAACATGCCCAGGAGCACT	0.627000													17	20					0	0	0.000375601	0	0
OSBP2	23762	broad.mit.edu	37	22	31091280	31091280	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:31091280C>T	ENST00000332585.6	+	1	488	c.384C>T	c.(382-384)tcC>tcT	p.S128S	OSBP2_ENST00000382310.3_Silent_p.S128S|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000446658.2_Silent_p.S128S|OSBP2_ENST00000407373.1_Intron	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	128					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGCCGCTCTCCCGGGCGGTGG	0.667000													38	41					0	0	0.00128727	0	0
PDE4B	5142	broad.mit.edu	37	1	66713166	66713166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:66713166C>T	ENST00000423207.2	+	2	745	c.260C>T	c.(259-261)tCc>tTc	p.S87F	PDE4B_ENST00000371049.3_Missense_Mutation_p.S102F|PDE4B_ENST00000329654.4_Missense_Mutation_p.S102F	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	102					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	AATGGCCCTTCCCCAGGTCGG	0.532000													175	89					0	0	0.000781405	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1148074	1148074	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:1148074G>A	ENST00000379236.3	-	4	385	c.381C>T	c.(379-381)ccC>ccT	p.P127P	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	127					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGGAGGGCAGGGGGCACAGT	0.706000													7	0					0	0	0.000274275	0	0
TGM6	343641	broad.mit.edu	37	20	2375099	2375099	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:2375099G>A	ENST00000202625.2	+	2	70	c.7_splice	c.e2-1	p.G3_splice	TGM6_ENST00000381423.1_Splice_Site_p.G3_splice|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	3					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCCACCCAGGGATCAGAGTCA	0.612000													11	29					0	0	0.00136819	0	0
ZNF808	388558	broad.mit.edu	37	19	53056970	53056970	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:53056970C>T	ENST00000359798.4	+	5	981	c.801C>T	c.(799-801)ctC>ctT	p.L267L		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GTGGCAAGCTCTTTAATCACA	0.398000													34	194					0	0	0.00058488	0	0
MPL	4352	broad.mit.edu	37	1	43805060	43805060	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:43805060C>T	ENST00000372470.3	+	4	552	c.510C>T	c.(508-510)cgC>cgT	p.R170R	MPL_ENST00000413998.2_Silent_p.R170R	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	170	Fibronectin type-III 1.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACGAACTCCGCTATGGCCCCA	0.572000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						57	21					0	0	0.000781405	0	0
OGDH	4967	broad.mit.edu	37	7	44714019	44714019	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:44714019G>A	ENST00000222673.5	+	7	840	c.798G>A	c.(796-798)gaG>gaA	p.E266E	OGDH_ENST00000543843.1_Silent_p.E217E|OGDH_ENST00000439616.2_Silent_p.E116E|OGDH_ENST00000459672.1_3'UTR|OGDH_ENST00000443864.2_Silent_p.E266E|OGDH_ENST00000449767.1_Silent_p.E262E|OGDH_ENST00000447398.1_Silent_p.E277E|OGDH_ENST00000444676.1_Silent_p.E281E	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	266					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GGTTTGAGGAGTTCCTACAGC	0.537000													54	51					0	0	0.000781405	0	0
GPR158	57512	broad.mit.edu	37	10	25887866	25887866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:25887866G>A	ENST00000376351.3	+	11	3670	c.3311G>A	c.(3310-3312)gGa>gAa	p.G1104E	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1104						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAGGAGAACGGAGGTCAGCCT	0.493000													26	68					0	0	0.000720815	0	0
SGOL2	151246	broad.mit.edu	37	2	201436643	201436643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:201436643C>T	ENST00000357799.4	+	7	1672	c.1574C>T	c.(1573-1575)tCc>tTc	p.S525F		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	525					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GGTCAGAATTCCCTAACTTGT	0.323000													101	81					0	0	0.000781405	0	0
ABCB11	8647	broad.mit.edu	37	2	169780212	169780212	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:169780212C>T	ENST00000263817.6	-	28	4010	c.3886G>A	c.(3886-3888)Gaa>Aaa	p.E1296K		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1296	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GTCCCCTTTTCAATCACCACC	0.517000													27	20					0	0	0.000878237	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186880420	186880420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:186880420C>T	ENST00000367466.3	+	7	609	c.457C>T	c.(457-459)Cag>Tag	p.Q153*	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Intron	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	153	PLA2c.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TCTGTGTGATCAGGAGAAGAC	0.448000													55	46					0	0	0.000781405	0	0
MYO18B	84700	broad.mit.edu	37	22	26423593	26423593	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:26423593G>A	ENST00000335473.7	+	43	7903	c.7653G>A	c.(7651-7653)ggG>ggA	p.G2551G	MYO18B_ENST00000407587.2_Silent_p.G2552G|MYO18B_ENST00000536101.1_Silent_p.G2551G	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2551						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGGGACGGGGAGGAAAGACG	0.547000													19	22					0	0	0.00121646	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612670	96612670	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:96612670G>A	ENST00000371321.3	+	9	1554	c.1472G>A	c.(1471-1473)tGa>tAa	p.*491*	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	0					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ATTCCTGTCTGAAGAAGCACA	0.493000													50	4					0	0	0.000781405	0	0
BCL11B	64919	broad.mit.edu	37	14	99723935	99723935	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:99723935G>A	ENST00000345514.2	-	2	566	c.300C>T	c.(298-300)ccC>ccT	p.P100P	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000357195.3_Silent_p.P100P	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	499						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		AGCGTGAGGAGGGTGGCGGGC	0.597000			T	TLX3	T-ALL								10	45					0	0	0.00136819	0	0
PIDD	55367	broad.mit.edu	37	11	804258	804258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:804258G>A	ENST00000347755.5	-	2	272	c.131C>T	c.(130-132)cCc>cTc	p.P44L	PIDD_ENST00000411829.2_Missense_Mutation_p.P44L|PIDD_ENST00000534649.1_5'UTR	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	44					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GCAGCCCCCGGGGTACAGGTC	0.652000													4	13					0	0	0.000602214	0	0
MORN1	79906	broad.mit.edu	37	1	2268200	2268200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:2268200G>A	ENST00000378531.3	-	11	1299	c.1126C>T	c.(1126-1128)Ccg>Tcg	p.P376S	MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	376										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TACCCAGGCGGGGGCGGCCCC	0.682000													8	32					0	0	0.000673444	0	0
ZNF251	90987	broad.mit.edu	37	8	145947718	145947718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:145947718G>A	ENST00000292562.7	-	5	1602	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GAACTCCGACGAAAGGCTTTG	0.488000													47	85					0	0	0.000589545	0	0
MAPK11	5600	broad.mit.edu	37	22	50705058	50705058	+	Silent	SNP	G	G	A	rs68010686		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:50705058G>A	ENST00000449719.2	-	6	927	c.591C>T	c.(589-591)gtC>gtT	p.V197V	MAPK11_ENST00000330651.6_Intron			Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	0	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGGCGAGGGGACCTCCATCA	0.637000													16	17					0	0	0.000308642	0	0
C2orf16	84226	broad.mit.edu	37	2	27803388	27803388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:27803388G>A	ENST00000408964.2	+	1	4000	c.3949G>A	c.(3949-3951)Gaa>Aaa	p.E1317K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1317										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCCTTCTAGGGAATTAGCAGC	0.398000													19	41					0	0	0.00121646	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75376333	75376333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:75376333C>T	ENST00000555647.1	-	8	1470	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	RPS6KL1_ENST00000358328.4_Missense_Mutation_p.E395K|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.E364K|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.E395K			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	395	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		ACCAGCATCTCTGCCGCCCAC	0.687000													21	50					0	0	0.00047179	0	0
CD226	10666	broad.mit.edu	37	18	67614097	67614097	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:67614097C>T	ENST00000280200.4	-	3	523	c.255G>A	c.(253-255)acG>acA	p.T85T	CD226_ENST00000577287.1_Intron|CD226_ENST00000581982.1_Intron|CD226_ENST00000582621.1_Silent_p.T85T	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	85	Ig-like C2-type 1.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TGGAAGCCATCGTTGAATTCA	0.458000													29	27					0	0	0.001512	0	0
CHD9	80205	broad.mit.edu	37	16	53352166	53352166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:53352166C>T	ENST00000566029.1	+	37	7788	c.7579C>T	c.(7579-7581)Cgt>Tgt	p.R2527C	CHD9_ENST00000447540.1_Missense_Mutation_p.R2528C|CHD9_ENST00000398510.3_Missense_Mutation_p.R2543C|CHD9_ENST00000564845.1_Missense_Mutation_p.R2527C			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2543					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAAAAGACACCGTTGCAGAAA	0.333000													15	27					0	0	0.000422831	0	0
SPATA9	83890	broad.mit.edu	37	5	95011280	95011280	+	Nonsense_Mutation	SNP	G	G	A	rs114848300	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:95011280G>A	ENST00000274432.8	-	3	355	c.214C>T	c.(214-216)Cga>Tga	p.R72*	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Nonsense_Mutation_p.R72*	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	72					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		AATGTTGCTCGATTAATCTTA	0.393000													42	30					0	0	0.000680045	0	0
SYCP1	6847	broad.mit.edu	37	1	115523998	115523998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:115523998G>A	ENST00000369522.3	+	29	2664	c.2424G>A	c.(2422-2424)tgG>tgA	p.W808*	SYCP1_ENST00000369518.1_Nonsense_Mutation_p.W808*|SYCP1_ENST00000477590.1_3'UTR	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	808					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATTTATTGGAAATTGGATT	0.303000													75	50					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9088106	9088106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9088106G>A	ENST00000397910.4	-	1	3912	c.3709C>T	c.(3709-3711)Cca>Tca	p.P1237S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1237	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						CTGAGGGTTGGAAGTCCCCCT	0.507000													83	204					0	0	0.000781405	0	0
OPLAH	26873	broad.mit.edu	37	8	145111949	145111949	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:145111949G>A	ENST00000426825.1	-	12	1689	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	536							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CGTAGAGCAGGGAGCAGGGTT	0.672000													4	13					0	0	0.000602214	0	0
ZNF74	7625	broad.mit.edu	37	22	20760622	20760622	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:20760622C>T	ENST00000400451.2	+	5	1813	c.1299C>T	c.(1297-1299)ctC>ctT	p.L433L	ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Silent_p.L433L|ZNF74_ENST00000405993.1_Silent_p.L401L	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	433					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCTCACCCTCCACCAGAGGA	0.642000													22	39					0	0	0.00152264	0	0
SLC29A1	2030	broad.mit.edu	37	6	44199741	44199741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:44199741G>A	ENST00000393841.1	+	11	1362	c.871G>A	c.(871-873)Gtc>Atc	p.V291I	SLC29A1_ENST00000313248.7_Missense_Mutation_p.V370I|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371724.1_Missense_Mutation_p.V291I|SLC29A1_ENST00000371755.3_Missense_Mutation_p.V291I|SLC29A1_ENST00000393844.1_Missense_Mutation_p.V291I|SLC29A1_ENST00000371713.1_Missense_Mutation_p.V291I|SLC29A1_ENST00000371731.1_Missense_Mutation_p.V291I|SLC29A1_ENST00000371740.5_Missense_Mutation_p.V291I|SLC29A1_ENST00000371708.1_Missense_Mutation_p.V291I|SLC29A1_ENST00000427851.2_Missense_Mutation_p.V291I	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	291					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	CTAGATCTCAGTCCTGGCTTT	0.527000													24	33					0	0	0.00047179	0	0
MIIP	60672	broad.mit.edu	37	1	12082369	12082369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:12082369C>T	ENST00000235332.4	+	3	501	c.332C>T	c.(331-333)cCc>cTc	p.P111L	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Missense_Mutation_p.P111L	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	111										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CGACCGAGACCCCACTCAGCA	0.682000													47	4					0	0	0.000781405	0	0
NEDD4L	23327	broad.mit.edu	37	18	56008369	56008369	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:56008369C>T	ENST00000456986.1	+	14	1462	c.862C>T	c.(862-864)Cga>Tga	p.R288*	NEDD4L_ENST00000256832.7_Nonsense_Mutation_p.R268*|NEDD4L_ENST00000435432.2_Nonsense_Mutation_p.R268*|NEDD4L_ENST00000431212.2_Nonsense_Mutation_p.R288*|NEDD4L_ENST00000357895.5_Nonsense_Mutation_p.R401*|NEDD4L_ENST00000382850.4_Nonsense_Mutation_p.R389*|NEDD4L_ENST00000400345.3_Nonsense_Mutation_p.R409*|NEDD4L_ENST00000356462.6_Intron|NEDD4L_ENST00000586263.1_Nonsense_Mutation_p.R381*|NEDD4L_ENST00000456173.2_Nonsense_Mutation_p.R268*|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256830.9_Intron	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	409					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TCATAACAATCGAACCACAAC	0.488000													14	8					0	0	0.000308642	0	0
LPA	4018	broad.mit.edu	37	6	161006193	161006193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:161006193C>T	ENST00000447678.1	-	27	4294	c.4174G>A	c.(4174-4176)Gat>Aat	p.D1392N	LPA_ENST00000316300.5_Missense_Mutation_p.D1392N	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3900	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTCTGTCCATCACCTCGGTAG	0.463000													106	10					0	0	0.000781405	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65811014	65811014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:65811014G>A	ENST00000312006.4	-	3	541	c.260C>T	c.(259-261)gCc>gTc	p.A87V	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.A87V	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	87					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GTGGCGCTCGGCAAAGCGAAA	0.657000													9	24					0	0	0.000274275	0	0
HIVEP1	3096	broad.mit.edu	37	6	12124382	12124382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:12124382C>T	ENST00000379388.2	+	4	4686	c.4354C>T	c.(4354-4356)Caa>Taa	p.Q1452*		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1452					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			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)				AACATCTTTCCAAAATACTGC	0.453000													18	110					0	0	0.00152264	0	0
BRPF3	27154	broad.mit.edu	37	6	36198362	36198362	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:36198362C>T	ENST00000357641.6	+	13	3847	c.3594C>T	c.(3592-3594)tcC>tcT	p.S1198S	BRPF3_ENST00000543502.1_Silent_p.S928S|BRPF3_ENST00000534400.1_3'UTR|BRPF3_ENST00000443324.2_Silent_p.S864S|BRPF3_ENST00000534694.1_Silent_p.S864S|BRPF3_ENST00000339717.7_Silent_p.S928S	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1198					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GGCCCCACTCCTTCGTCACTT	0.632000													20	25					0	0	0.000375601	0	0
CSMD3	114788	broad.mit.edu	37	8	114326957	114326957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:114326957G>A	ENST00000297405.5	-	2	488	c.244C>T	c.(244-246)Cca>Tca	p.P82S	CSMD3_ENST00000352409.3_Missense_Mutation_p.P82S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P42S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P82S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	82	CUB 1.					integral to membrane|plasma membrane		p.P82S(1)		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						TATCCATATGGAAAACCAGGG	0.328000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			82	178					0	0	0.000781405	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37485790	37485790	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:37485790G>A	ENST00000381792.2	-	7	804	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	TMPRSS6_ENST00000442782.2_Nonsense_Mutation_p.Q231*|TMPRSS6_ENST00000406725.1_Nonsense_Mutation_p.Q222*|TMPRSS6_ENST00000406856.1_Nonsense_Mutation_p.Q222*|TMPRSS6_ENST00000346753.3_Nonsense_Mutation_p.Q231*			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	231	CUB 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CGGAGGACCTGGCCCTGGCCC	0.672000													18	16					0	0	0.000958276	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315884	30315884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:30315884C>T	ENST00000375377.1	-	3	3294	c.3193G>A	c.(3193-3195)Gag>Aag	p.E1065K		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1065										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AAAGACCCCTCTAGCTCACTG	0.592000													43	120					0	0	0.000781405	0	0
SIK3	23387	broad.mit.edu	37	11	116824823	116824823	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:116824823C>T	ENST00000375300.1	-	3	396	c.390_splice	c.e3-1	p.V131_splice	SIK3_ENST00000542607.1_Splice_Site_p.V73_splice|SIK3_ENST00000446921.2_Splice_Site_p.V131_splice|SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000292055.4_Splice_Site_p.V73_splice			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	73	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GTCTCCATAACCTGGTGCAAA	0.368000													161	23					0	0	0.000781405	0	0
MAGEC3	139081	broad.mit.edu	37	X	140953310	140953310	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:140953310G>A	ENST00000298296.1	+	2	177	c.177G>A	c.(175-177)ctG>ctA	p.L59L		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	59										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGGCATCTGAGGGAGGTGA	0.507000													32	8					0	0	0.000953801	0	0
SIX4	51804	broad.mit.edu	37	14	61180337	61180337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:61180337G>A	ENST00000216513.4	-	3	2193	c.2134C>T	c.(2134-2136)Cgt>Tgt	p.R712C		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	712						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		AGAACCAAACGATGTTCTTGG	0.443000													15	30					0	0	0.000308642	0	0
SLC12A8	84561	broad.mit.edu	37	3	124906250	124906250	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:124906250C>A	ENST00000423114.2	-	4	307	c.308G>T	c.(307-309)gGc>gTc	p.G103V	SLC12A8_ENST00000393469.4_Missense_Mutation_p.G74V|SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.G74V			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	74					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						CAGGAACATGCCCAGGAGCAC	0.632000													17	20					3.83957e-06	1.83283e-05	0.000375601	1	0
CR1L	1379	broad.mit.edu	37	1	207851592	207851592	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:207851592G>A	ENST00000508064.2	+	3	387	c.327G>A	c.(325-327)gtG>gtA	p.V109V	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	109	Sushi 2.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGCACATGTGATCAAAGACA	0.388000													54	40					0	0	0.000781405	0	0
KIAA0355	9710	broad.mit.edu	37	19	34838929	34838929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:34838929C>T	ENST00000299505.6	+	11	3542	c.2669C>T	c.(2668-2670)cCc>cTc	p.P890L		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	890										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TGGCCCTTCCCCGAGTTCTTC	0.657000													10	13					0	0	0.000673444	0	0
ZNF578	147660	broad.mit.edu	37	19	53014273	53014273	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:53014273C>T	ENST00000421239.2	+	6	883	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATAATTTTTTCCATTCATCAT	0.358000													30	110					0	0	0.00106085	0	0
MYO15A	51168	broad.mit.edu	37	17	18023906	18023906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:18023906G>A	ENST00000205890.5	+	2	2130	c.1792G>A	c.(1792-1794)Ggc>Agc	p.G598S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	598	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGCCCGGGCGGGCGGCCCTGC	0.697000													7	3					0	0	0.000673444	0	0
FAM65C	140876	broad.mit.edu	37	20	49219013	49219013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:49219013C>T	ENST00000327979.2	-	13	1654	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	FAM65C_ENST00000045083.2_Missense_Mutation_p.E415K|FAM65C_ENST00000535356.1_Missense_Mutation_p.E419K			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	415										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						GTGCTGGTCTCCGTGTCTCGG	0.642000													72	53					0	0	0.000781405	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800709	70800709	+	Missense_Mutation	SNP	C	C	T	rs146773920	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:70800709C>T	ENST00000333538.5	+	2	1046	c.412C>T	c.(412-414)Cgt>Tgt	p.R138C	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	138						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCCGGATTATCGTCCCACCAA	0.463000													29	59					0	0	0.001512	0	0
PPARA	5465	broad.mit.edu	37	22	46594462	46594462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:46594462C>T	ENST00000396000.2	+	3	447	c.182C>T	c.(181-183)cCt>cTt	p.P61L	PPARA_ENST00000434345.2_Missense_Mutation_p.P61L|PPARA_ENST00000407236.1_Missense_Mutation_p.P61L|PPARA_ENST00000262735.5_Missense_Mutation_p.P61L|PPARA_ENST00000402126.1_Missense_Mutation_p.P61L			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	61					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	GGAAGCTGTCCTGGCTCAGAT	0.428000													62	61					0	0	0.000781405	0	0
RILP	83547	broad.mit.edu	37	17	1551726	1551726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:1551726C>T	ENST00000301336.6	-	5	1011	c.739G>A	c.(739-741)Gag>Aag	p.E247K		NM_031430.2	NP_113618.2	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	247	RILP-like.				endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGCTCAAACTCCTCCCGACTG	0.632000													111	7					0	0	0.000781405	0	0
GCN1L1	10985	broad.mit.edu	37	12	120586048	120586048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:120586048G>A	ENST00000300648.6	-	37	4661	c.4649C>T	c.(4648-4650)tCc>tTc	p.S1550F		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1550					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTGACATGGGAGTCGGTCAG	0.582000													34	21					0	0	0.00128727	0	0
TRIM67	440730	broad.mit.edu	37	1	231333210	231333210	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:231333210C>T	ENST00000444294.3	+	2	1996	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*	TRIM67_ENST00000366652.2_Nonsense_Mutation_p.Q380*|TRIM67_ENST00000449018.3_Nonsense_Mutation_p.Q318*|TRIM67_ENST00000366653.5_Nonsense_Mutation_p.Q380*	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	380						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GCAGCAGATCCAGGTGAGCAC	0.468000													23	48					0	0	0.00047179	0	0
OR4X2	119764	broad.mit.edu	37	11	48266881	48266881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:48266881G>A	ENST00000302329.3	+	1	274	c.226G>A	c.(226-228)Gat>Aat	p.D76N		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ACTCATCTCAGATCTGCTGGC	0.512000													67	46					0	0	0.000781405	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566726	45566726	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:45566726G>A	ENST00000588982.1	-	3	1254	c.753C>T	c.(751-753)ttC>ttT	p.F251F	ZBTB7C_ENST00000535628.2_Silent_p.F251F|ZBTB7C_ENST00000590800.1_Silent_p.F251F|ZBTB7C_ENST00000586438.1_Silent_p.F251F|ZBTB7C_ENST00000332053.2_Silent_p.F251F			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	251						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						AGTCCGGGGCGAATGGAGACA	0.597000													22	30					0	0	0.00047179	0	0
ZNF233	353355	broad.mit.edu	37	19	44778806	44778806	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:44778806G>A	ENST00000391958.2	+	5	2120	c.1993G>A	c.(1993-1995)Gat>Aat	p.D665N	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.D647N|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GTTGTCTTCAGATTCATCAGA	0.408000													16	12					0	0	0.000422831	0	0
TATDN2	9797	broad.mit.edu	37	3	10311961	10311961	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:10311961C>T	ENST00000287652.4	+	4	2146	c.1095C>T	c.(1093-1095)acC>acT	p.T365T	TATDN2_ENST00000448281.2_Silent_p.T365T|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	365						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CCTTCACCACCGACTATGTCA	0.532000													67	58					0	0	0.000781405	0	0
GZMB	3002	broad.mit.edu	37	14	25102253	25102253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:25102253C>T	ENST00000216341.4	-	2	177	c.71G>A	c.(70-72)gGa>gAa	p.G24E	GZMB_ENST00000382542.1_Missense_Mutation_p.G58E|GZMB_ENST00000382540.1_Missense_Mutation_p.G24E|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000415355.3_Missense_Mutation_p.G12E|GZMB_ENST00000526004.1_Missense_Mutation_p.G24E|RP11-104E19.1_ENST00000555300.1_RNA			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	24	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	p.G58E(1)|p.G24E(1)		endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		GGCCTCATGTCCCCCGATGAT	0.567000													70	88					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9072421	9072421	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:9072421C>T	ENST00000397910.4	-	3	15228	c.15025G>A	c.(15025-15027)Gga>Aga	p.G5009R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5011	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						TGTGAAAATCCATGAGTCATA	0.488000													23	68					0	0	0.000586117	0	0
H6PD	9563	broad.mit.edu	37	1	9324630	9324630	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:9324630T>C	ENST00000377403.2	+	5	2380	c.2078T>C	c.(2077-2079)aTg>aCg	p.M693T	H6PD_ENST00000602477.1_Missense_Mutation_p.M704T	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	693	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CTGCTGGGCATGGGTGCCGAC	0.677000													84	8					0	0	0.000781405	0	0
HMCN1	83872	broad.mit.edu	37	1	185934984	185934984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:185934984G>A	ENST00000271588.4	+	14	2378	c.2149G>A	c.(2149-2151)Gat>Aat	p.D717N	HMCN1_ENST00000367492.2_Missense_Mutation_p.D717N|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	717	Ig-like C2-type 4.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.D717N(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGCCCTTGGGGATATAACCGT	0.398000													28	73					0	0	0.000491102	0	0
AMPD2	271	broad.mit.edu	37	1	110163645	110163645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:110163645C>T	ENST00000256578.3	+	1	370	c.10C>T	c.(10-12)Cgt>Tgt	p.R4C	AMPD2_ENST00000528667.1_Missense_Mutation_p.R4C|AMPD2_ENST00000526301.1_Intron|AMPD2_ENST00000342115.4_Intron	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	4					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.R4S(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CATGAGAAATCGTGGCCAGGG	0.652000													21	5					0	0	0.000720815	0	0
TMEM18	129787	broad.mit.edu	37	2	669593	669593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:669593C>T	ENST00000281017.3	-	5	503	c.410G>A	c.(409-411)aGg>aAg	p.R137K	TMEM18_ENST00000405941.3_Missense_Mutation_p.R140K|TMEM18_ENST00000355654.2_Missense_Mutation_p.R124K	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	137					cell migration	integral to membrane|nuclear membrane				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		GTCttctttccttctcctttt	0.498000													29	8					0	0	0.000878237	0	0
DMWD	1762	broad.mit.edu	37	19	46289281	46289281	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:46289281G>A	ENST00000270223.6	-	3	1518	c.1473C>T	c.(1471-1473)tcC>tcT	p.S491S	DMWD_ENST00000377735.3_Silent_p.S491S	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	491					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		TGTTGGAGCGGGACAGCGAGC	0.746000													5	5					0	0	0.00116845	0	0
RNF123	63891	broad.mit.edu	37	3	49753851	49753851	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:49753851C>T	ENST00000327697.6	+	35	3585	c.3441C>T	c.(3439-3441)ccC>ccT	p.P1147P	RNF123_ENST00000433785.1_Silent_p.P259P	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1147						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ACCACTATCCCATTCTGGTGG	0.642000													127	20					0	0	0.000781405	0	0
CLGN	1047	broad.mit.edu	37	4	141315165	141315165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:141315165G>A	ENST00000325617.5	-	11	1620	c.1180C>T	c.(1180-1182)Cca>Tca	p.P394S	CLGN_ENST00000414773.1_Missense_Mutation_p.P394S|CLGN_ENST00000537281.1_Missense_Mutation_p.P394S	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	394					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					AAATAATCTGGATTAGGAATT	0.328000													13	21					0	0	0.00185496	0	0
CHD6	84181	broad.mit.edu	37	20	40042110	40042110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:40042110G>A	ENST00000373233.3	-	35	7162	c.6985C>T	c.(6985-6987)Cct>Tct	p.P2329S	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2329					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGCCCCTCAGGGTGTGTGGTG	0.547000													13	12					0	0	0.00185496	0	0
CTAGE5	4253	broad.mit.edu	37	14	39818153	39818153	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:39818153C>T	ENST00000553728.1	+	27	4038	c.3825C>T	c.(3823-3825)ttC>ttT	p.F1275F	CTAGE5_ENST00000341749.3_Silent_p.F728F|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000556148.1_Silent_p.F665F|CTAGE5_ENST00000396165.4_Silent_p.F711F|CTAGE5_ENST00000341502.5_Silent_p.F740F|CTAGE5_ENST00000280083.3_Silent_p.F740F|CTAGE5_ENST00000348007.3_Silent_p.F697F|CTAGE5_ENST00000557038.1_Silent_p.F660F|CTAGE5_ENST00000396158.2_Silent_p.F745F|CTAGE5_ENST00000553352.1_Silent_p.F711F|RP11-407N17.3_ENST00000603904.1_Silent_p.F711F																							CAGGGGATTTCCCAGGTCCAC	0.423000													25	74					0	0	0.000720815	0	0
OR12D3	81797	broad.mit.edu	37	6	29342848	29342848	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:29342848A>C	ENST00000396806.3	-	1	220	c.217T>G	c.(217-219)Tca>Gca	p.S73A	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						AGTGTCACTGAAGAATAAGAA	0.433000													19	20					0	0	0.00152264	0	0
LRRC49	54839	broad.mit.edu	37	15	71256254	71256254	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:71256254G>C	ENST00000260382.5	+	9	1164	c.904G>C	c.(904-906)Gat>Cat	p.D302H	LRRC49_ENST00000560158.2_Intron|LRRC49_ENST00000544974.2_Missense_Mutation_p.D292H|LRRC49_ENST00000560369.1_Missense_Mutation_p.D307H|LRRC49_ENST00000560691.1_Missense_Mutation_p.D8H|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.D258H	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	302	LRRCT.					cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GCGCCAGCTAGATATGAAGAG	0.438000													27	48					0	0	0.00127121	0	0
ABCA2	20	broad.mit.edu	37	9	139905466	139905466	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:139905466G>A	ENST00000265662.5	-	39	6162	c.6015C>T	c.(6013-6015)ctC>ctT	p.L2005L	ABCA2_ENST00000341511.6_Silent_p.L2005L|ABCA2_ENST00000371605.3_Silent_p.L2004L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2004					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGATGGTCAGGAGGAAGCCCA	0.677000													13	3					0	0	0.00185496	0	0
OR51S1	119692	broad.mit.edu	37	11	4869782	4869782	+	Silent	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:4869782C>A	ENST00000322101.2	-	1	732	c.657G>T	c.(655-657)ctG>ctT	p.L219L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		AGAAAATAAGCAGGGGGTCCA	0.542000													26	27					0.00047179	0.00223905	0.00047179	1	0
HS1BP3	64342	broad.mit.edu	37	2	20840835	20840835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:20840835C>T	ENST00000402541.1	-	3	318	c.304G>A	c.(304-306)Gag>Aag	p.E102K	HS1BP3_ENST00000304031.3_Missense_Mutation_p.E102K|HS1BP3_ENST00000406618.3_Missense_Mutation_p.E102K			Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	102	PX.				cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGTCAGACTCCCCAACAAAC	0.547000													48	101					0	0	0.000781405	0	0
RNF17	56163	broad.mit.edu	37	13	25370433	25370433	+	Splice_Site	SNP	G	G	A	rs9581180		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:25370433G>A	ENST00000255324.5	+	11	1451	c.1399_splice	c.e11+1	p.G467_splice	RNF17_ENST00000381921.1_Splice_Site_p.G467_splice|RNF17_ENST00000255325.5_Splice_Site_p.G468_splice	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	467			G -> S (in dbSNP:rs9581180).		multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTGGAACTAGGTAATGAAAT	0.303000													46	26					0	0	0.000781405	0	0
TRPC4	7223	broad.mit.edu	37	13	38237701	38237701	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:38237701G>A	ENST00000379705.3	-	6	2397	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L	TRPC4_ENST00000379681.3_Silent_p.L514L|TRPC4_ENST00000379679.1_Silent_p.L341L|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000355779.2_Silent_p.L514L|TRPC4_ENST00000379673.2_Silent_p.L514L|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000358477.2_Silent_p.L514L|TRPC4_ENST00000447043.1_Silent_p.L514L|TRPC4_ENST00000338947.5_Silent_p.L341L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	514					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AAAATGTCCAGGAGCATTCTT	0.388000													25	11					0	0	0.000586117	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50188918	50188918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:50188918C>T	ENST00000335999.6	-	8	2926	c.2725G>A	c.(2725-2727)Gtc>Atc	p.V909I		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	905										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CGGTGCTTGACCTCGGCGCCA	0.642000													15	25					0	0	0.000566183	0	0
SPRYD4	283377	broad.mit.edu	37	12	56863217	56863217	+	Silent	SNP	G	G	A	rs71459371		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:56863217G>A	ENST00000338146.5	+	2	555	c.480G>A	c.(478-480)caG>caA	p.Q160Q		NM_207344.3	NP_997227.1	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	160	B30.2/SPRY.					nucleus				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						ATGAGGCCCAGAAGCTGAGCC	0.592000													28	25					0	0	0.001512	0	0
MFSD4	148808	broad.mit.edu	37	1	205549071	205549071	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:205549071C>T	ENST00000367147.4	+	2	516	c.423C>T	c.(421-423)ttC>ttT	p.F141F	MFSD4_ENST00000539267.1_Silent_p.F141F|MFSD4_ENST00000536357.1_Silent_p.F141F	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	141					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CGGCCGTCTTCCTCCAGGTAA	0.672000													15	4					0	0	0.000422831	0	0
ACE	1636	broad.mit.edu	37	17	61566478	61566478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:61566478C>T	ENST00000577647.1	+	6	949	c.904C>T	c.(904-906)Cct>Tct	p.P302S	ACE_ENST00000490216.2_Missense_Mutation_p.P302S|ACE_ENST00000428043.1_Missense_Mutation_p.P876S|ACE_ENST00000413513.3_Missense_Mutation_p.P302S|ACE_ENST00000421982.2_Intron|ACE_ENST00000290866.4_Missense_Mutation_p.P876S|ACE_ENST00000290863.6_Missense_Mutation_p.P302S			P12821	ACE_HUMAN	angiotensin I converting enzyme	876	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGGGCCCATTCCTGCTCACCT	0.632000													26	4					0	0	0.00047179	0	0
SYT5	6861	broad.mit.edu	37	19	55689657	55689657	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:55689657C>T	ENST00000354308.3	-	3	528	c.159G>A	c.(157-159)aaG>aaA	p.K53K	SYT5_ENST00000537500.1_Silent_p.K53K|SYT5_ENST00000590851.1_Intron	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	53					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCCGACAGCTCTTCCGGTAGA	0.617000													5	53					0	0	0.00198382	0	0
CORO2A	7464	broad.mit.edu	37	9	100897226	100897226	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:100897226C>T	ENST00000343933.5	-	4	587	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CORO2A_ENST00000375077.4_Nonsense_Mutation_p.W110*	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	110					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGGGGATGCTCCAGATCTTAA	0.632000													42	5					0	0	0.000781405	0	0
MXRA5	25878	broad.mit.edu	37	X	3241568	3241568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:3241568G>A	ENST00000217939.6	-	5	2312	c.2158C>T	c.(2158-2160)Caa>Taa	p.Q720*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	720						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)				AACACCTCTTGGTCCTTTGGA	0.478000													36	1					0	0	0.00128727	0	0
NGLY1	55768	broad.mit.edu	37	3	25805596	25805596	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:25805596G>A	ENST00000428257.1	-	3	560	c.453C>T	c.(451-453)aaC>aaT	p.N151N	NGLY1_ENST00000422724.2_Silent_p.N74N|NGLY1_ENST00000417874.2_Silent_p.N109N|NGLY1_ENST00000396649.3_Silent_p.N151N|NGLY1_ENST00000280700.5_Silent_p.N151N	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	151					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GCCCTTGACGGTTCCTTGTGT	0.438000													16	60					0	0	0.00074312	0	0
TMC3	342125	broad.mit.edu	37	15	81637258	81637258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:81637258G>A	ENST00000558726.1	-	13	1505	c.1370C>T	c.(1369-1371)tCt>tTt	p.S457F	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.S456F			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	456						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TCCAGGCCGAGATGTGGACCA	0.483000													13	14					0	0	0.000308642	0	0
TMEM106A	113277	broad.mit.edu	37	17	41365860	41365860	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:41365860G>A	ENST00000331615.3	+	4	462	c.225G>A	c.(223-225)caG>caA	p.Q75Q	TMEM106A_ENST00000536052.1_Silent_p.Q75Q|TMEM106A_ENST00000541594.1_Silent_p.Q27Q|TMEM106A_ENST00000588659.1_Silent_p.Q75Q|TMEM106A_ENST00000592564.1_3'UTR	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	75						integral to membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		TGGAGAAGCAGTTGGTGGCTC	0.572000													11	31					0	0	0.000219431	0	0
AK5	26289	broad.mit.edu	37	1	77763292	77763292	+	Missense_Mutation	SNP	G	G	A	rs141828356		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:77763292G>A	ENST00000344720.5	+	4	1412	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	AK5_ENST00000354567.2_Missense_Mutation_p.R155Q|AK5_ENST00000317704.4_3'UTR	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	155					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ATTGCAGAACGATATGGATTC	0.383000													11	66					0	0	0.00136819	0	0
CACNA1E	777	broad.mit.edu	37	1	181741296	181741296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:181741296G>A	ENST00000526775.1	+	36	5176	c.5011G>A	c.(5011-5013)Gag>Aag	p.E1671K	CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1690K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1641K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1622K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1671K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1297K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1690K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1690					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E1690K(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGGCAGAACGAGAACGAACG	0.557000													36	28					0	0	0.000953801	0	0
RAG2	5897	broad.mit.edu	37	11	36615435	36615435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:36615435C>T	ENST00000311485.3	-	2	445	c.284G>A	c.(283-285)gGa>gAa	p.G95E		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	95					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TGTTTTCCCTCCATGGATGAT	0.423000									Familial Hemophagocytic Lymphohistiocytosis				27	98					0	0	0.001512	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71549895	71549895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:71549895G>A	ENST00000265382.3	+	13	1596	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.E431K	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	431						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AATTAGCCAGGAATGGAAGGA	0.428000													24	12					0	0	0.000586117	0	0
DSPP	1834	broad.mit.edu	37	4	88533886	88533886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:88533886G>A	ENST00000399271.1	+	4	668	c.548G>A	c.(547-549)gGa>gAa	p.G183E	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.G183E	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	183					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		CAAGAAGATGGACCTCAAGTA	0.408000													21	22					0	0	0.00152264	0	0
MAP4K5	11183	broad.mit.edu	37	14	50912825	50912825	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:50912825C>G	ENST00000013125.4	-	17	1475	c.1157G>C	c.(1156-1158)cGt>cCt	p.R386P		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	386					activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R386H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TGGTATTGCACGTTTTGAGGT	0.284000													13	22					0	0	0.000566183	0	0
SBSN	374897	broad.mit.edu	37	19	36018747	36018747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:36018747C>T	ENST00000452271.2	-	1	465	c.437G>A	c.(436-438)gGa>gAa	p.G146E	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	145	Ala/Gly/His-rich.					extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCCTCACTTCCCGCCTGGTT	0.607000													29	30					0	0	0.00127121	0	0
C8B	732	broad.mit.edu	37	1	57425832	57425832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:57425832G>A	ENST00000371237.4	-	2	176	c.110C>T	c.(109-111)tCc>tTc	p.S37F	C8B_ENST00000494324.1_5'UTR|C8B_ENST00000535057.1_5'UTR|C8B_ENST00000543257.1_5'UTR	NM_000066.2	NP_000057.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	37					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGACCCAAAGGAATGTGGCCT	0.418000													17	78					0	0	0.00074312	0	0
KIAA1324	57535	broad.mit.edu	37	1	109735476	109735476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:109735476C>T	ENST00000369939.3	+	14	2110	c.1927C>T	c.(1927-1929)Cca>Tca	p.P643S	KIAA1324_ENST00000529753.1_Missense_Mutation_p.P556S|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	643					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GCCCTGTGGTCCAGGGACCAA	0.537000													150	93					0	0	0.000781405	0	0
TPO	7173	broad.mit.edu	37	2	1488382	1488382	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:1488382G>A	ENST00000345913.4	+	9	1444	c.1353G>A	c.(1351-1353)agG>agA	p.R451R	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Silent_p.R451R|TPO_ENST00000382198.1_Silent_p.R278R|TPO_ENST00000329066.4_Silent_p.R451R|TPO_ENST00000349624.3_Silent_p.R278R|TPO_ENST00000346956.3_Silent_p.R451R|TPO_ENST00000337415.3_Silent_p.R451R	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	451					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TCACCCTGAGGGATTACATCC	0.577000													9	27					0	0	0.000673444	0	0
FLG	2312	broad.mit.edu	37	1	152281741	152281741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:152281741G>A	ENST00000368799.1	-	3	5656	c.5621C>T	c.(5620-5622)tCa>tTa	p.S1874L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1874	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S1874L(1)		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)			GCCGTCTCCTGATTGTTTCTC	0.572000									Ichthyosis				200	118					0	0	0.000781405	0	0
DNAH7	56171	broad.mit.edu	37	2	196774785	196774785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:196774785C>T	ENST00000312428.6	-	25	4170	c.4070G>A	c.(4069-4071)gGg>gAg	p.G1357E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1357	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATAATCCAACCCATCAGAGCA	0.408000													15	37					0	0	0.000219431	0	0
CUL9	23113	broad.mit.edu	37	6	43184064	43184064	+	Silent	SNP	T	T	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:43184064T>A	ENST00000252050.4	+	31	6189	c.6105T>A	c.(6103-6105)gcT>gcA	p.A2035A	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Silent_p.A1925A|CUL9_ENST00000372647.2_Silent_p.A2007A	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2035					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACTGGGGCGCTGAACAGCTGC	0.602000													12	22					0	0	0.00136819	0	0
CXorf27	25763	broad.mit.edu	37	X	37850232	37850232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:37850232C>T	ENST00000341016.3	+	1	163	c.140C>T	c.(139-141)tCc>tTc	p.S47F	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN	chromosome X open reading frame 27	47							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						AGCCAGAGTTCCTCCACAATA	0.517000													27	4					0	0	0.00106085	0	0
SPTB	6710	broad.mit.edu	37	14	65233428	65233428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:65233428G>A	ENST00000542895.1	-	32	6457	c.6361C>T	c.(6361-6363)Cgt>Tgt	p.R2121C	SPTB_ENST00000389720.3_Missense_Mutation_p.S2104L|SPTB_ENST00000389721.5_Missense_Mutation_p.R2121C|SPTB_ENST00000389722.3_Intron|SPTB_ENST00000556626.1_Intron			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2121					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTAGACAAACGAGACCAGAGA	0.637000													36	112					0	0	0.000953801	0	0
TNXB	7148	broad.mit.edu	37	6	32032812	32032812	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:32032812G>A	ENST00000375244.3	-	19	6828	c.6627C>T	c.(6625-6627)tcC>tcT	p.S2209S	TNXB_ENST00000375247.2_Silent_p.S2209S			P22105	TENX_HUMAN	tenascin XB	2281	Fibronectin type-III 14.				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						AGAGGCTGAGGGAGTCGGAGG	0.597000													65	241					0	0	0.000781405	0	0
TRPC7	57113	broad.mit.edu	37	5	135583275	135583275	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:135583275C>T	ENST00000513104.1	-	7	2010	c.1728G>A	c.(1726-1728)gtG>gtA	p.V576V	TRPC7_ENST00000426057.2_Silent_p.V460V|TRPC7_ENST00000355180.3_Silent_p.V515V	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	576					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGATATCTTTCACAGTTCTCC	0.473000													33	75					0	0	0.00170553	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41455036	41455036	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:41455036C>T	ENST00000599198.1	+	0	1427					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CAGAACTTCTCCGTGGCCAGC	0.572000													6	3					0	0	0.00116845	0	0
HDAC9	9734	broad.mit.edu	37	7	19015469	19015469	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:19015469G>A	ENST00000406451.3	+	25	3204	c.3054G>A	c.(3052-3054)agG>agA	p.R1018R	HDAC9_ENST00000401921.1_Silent_p.R977R|HDAC9_ENST00000441542.2_Silent_p.R1021R	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	0					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTGTGCCAAGGGGCTGTGCTC	0.478000													17	34					0	0	0.000958276	0	0
OPHN1	4983	broad.mit.edu	37	X	67333082	67333082	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:67333082C>T	ENST00000355520.5	-	17	2003		c.e17-1		OPHN1_ENST00000540071.1_Splice_Site	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1						axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						AGAAAGATTCCTGAAATGAAT	0.418000													8	1					0	0	0.000274275	0	0
EMC1	23065	broad.mit.edu	37	1	19566418	19566418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:19566418G>A	ENST00000477853.1	-	8	890	c.848C>T	c.(847-849)cCa>cTa	p.P283L	EMC1_ENST00000375208.3_Missense_Mutation_p.P261L|EMC1_ENST00000375199.3_Missense_Mutation_p.P283L|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		AGCGTCCACTGGGTTGGGCTG	0.532000													16	46					0	0	0.000308642	0	0
ZNF813	126017	broad.mit.edu	37	19	53994699	53994699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:53994699C>T	ENST00000396403.4	+	4	1341	c.1213C>T	c.(1213-1215)Cat>Tat	p.H405Y	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCGTAGACTTCATACCGGAGA	0.408000													14	70					0	0	0.000308642	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42162941	42162941	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:42162941C>T	ENST00000444063.1	+	12	1479	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	L3MBTL1_ENST00000427442.2_Silent_p.F517F|L3MBTL1_ENST00000373135.3_Silent_p.F449F|L3MBTL1_ENST00000418998.1_Silent_p.F517F|L3MBTL1_ENST00000373134.1_Silent_p.F449F			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	449					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CTCACAGCTTCCTGGTCAATA	0.627000													26	69					0	0	0.000878237	0	0
APOB	338	broad.mit.edu	37	2	21231540	21231540	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:21231540G>A	ENST00000233242.1	-	26	8327	c.8200C>T	c.(8200-8202)Cct>Tct	p.P2734S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2734				Missing (in Ref. 15; AAA51758).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.P2734S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGAAGGTCAGGAACTTGAAAA	0.418000													326	217					0	0	0.000781405	0	0
L1CAM	3897	broad.mit.edu	37	X	153135651	153135651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:153135651G>A	ENST00000370060.1	-	9	1040	c.851C>T	c.(850-852)cCa>cTa	p.P284L	L1CAM_ENST00000361981.3_Missense_Mutation_p.P279L|L1CAM_ENST00000538883.1_Missense_Mutation_p.P286L|L1CAM_ENST00000543994.1_Missense_Mutation_p.P286L|L1CAM_ENST00000361699.4_Missense_Mutation_p.P284L|L1CAM_ENST00000370055.1_Missense_Mutation_p.P279L|L1CAM_ENST00000370057.3_Missense_Mutation_p.P284L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	284	Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACGGTCGGCTGGCATGGGGCC	0.617000													76	9					0	0	0.000781405	0	0
CUX2	23316	broad.mit.edu	37	12	111652089	111652089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:111652089G>A	ENST00000261726.6	+	2	303	c.149G>A	c.(148-150)cGg>cAg	p.R50Q		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	50						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAACTCCGCCGGGAATTTAAG	0.378000													55	23					0	0	0.000781405	0	0
NLRP9	338321	broad.mit.edu	37	19	56243522	56243522	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:56243522T>C	ENST00000332836.2	-	2	1702	c.1675A>G	c.(1675-1677)Acc>Gcc	p.T559A		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	559						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ATCACTTTGGTTACAAATTCT	0.333000													15	81					0	0	0.000308642	0	0
IRGC	56269	broad.mit.edu	37	19	44224036	44224036	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:44224036G>A	ENST00000244314.5	+	2	1525	c.1326G>A	c.(1324-1326)agG>agA	p.R442R		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	442						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CAACCTGCAGGAAGCTCGGCC	0.597000													11	20					0	0	0.000978159	0	0
FRZB	2487	broad.mit.edu	37	2	183723556	183723556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:183723556G>A	ENST00000295113.4	-	2	1093	c.484C>T	c.(484-486)Cct>Tct	p.P162S		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	162					brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GAATCCATAGGAAAATCTGAA	0.343000													70	89					0	0	0.000781405	0	0
TG	7038	broad.mit.edu	37	8	134042158	134042158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:134042158C>T	ENST00000220616.4	+	41	7169	c.7129C>T	c.(7129-7131)Cct>Tct	p.P2377S	TG_ENST00000377869.1_Missense_Mutation_p.P2320S|TG_ENST00000542445.1_Missense_Mutation_p.P747S|TG_ENST00000519543.1_Missense_Mutation_p.P510S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2377					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGCGGGGACCCTCGGCGCGT	0.662000													17	44					0	0	0.00074312	0	0
FREM2	341640	broad.mit.edu	37	13	39452383	39452383	+	Silent	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:39452383C>A	ENST00000280481.7	+	22	9000	c.8784C>A	c.(8782-8784)ccC>ccA	p.P2928P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2928					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCTATGTTCCCAAGTATAGTC	0.428000													6	59					0.00198382	0.00936454	0.00198382	1	0
ARRB1	408	broad.mit.edu	37	11	74993017	74993017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:74993017C>T	ENST00000420843.2	-	6	500	c.403G>A	c.(403-405)Gac>Aac	p.D135N	ARRB1_ENST00000360025.3_Missense_Mutation_p.D135N|ARRB1_ENST00000393505.4_Missense_Mutation_p.D135N	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	135	Interaction with SRC (By similarity).				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TTCCCCGTGTCTTCGGGCCCC	0.592000													13	28					0	0	0.000422831	0	0
PBRM1	55193	broad.mit.edu	37	3	52582135	52582135	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:52582135A>T	ENST00000356770.4	-	28	4755	c.4753T>A	c.(4753-4755)Ttg>Atg	p.L1585M	PBRM1_ENST00000410007.1_Missense_Mutation_p.L1592M|PBRM1_ENST00000409767.1_Missense_Mutation_p.L1580M|PBRM1_ENST00000409057.1_Missense_Mutation_p.L1617M|PBRM1_ENST00000394830.3_Missense_Mutation_p.L1565M|PBRM1_ENST00000409114.3_Missense_Mutation_p.L1635M|PBRM1_ENST00000337303.4_Missense_Mutation_p.L1565M|PBRM1_ENST00000296302.7_Missense_Mutation_p.L1672M|SMIM4_ENST00000476842.1_Intron			Q86U86	PB1_HUMAN	polybromo 1	1672	Pro-rich.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CGGAGCATCAAATCTCGAAGG	0.478000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								79	16					0	0	0.000781405	0	0
MIR409	574413	broad.mit.edu	37	14	101531652	101531652	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:101531652G>A	ENST00000362237.1	+	0	16					NR_029975.1																						CTCGGGGAGAGGTTACCCGAG	0.582000													14	32					0	0	0.00185496	0	0
SOAT1	6646	broad.mit.edu	37	1	179310213	179310213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:179310213C>T	ENST00000367619.3	+	7	691	c.548C>T	c.(547-549)aCc>aTc	p.T183I	SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000540564.1_Missense_Mutation_p.T125I|SOAT1_ENST00000539888.1_Missense_Mutation_p.T118I	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	183					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	AAATTTCCTACCGTTGTTTGG	0.423000													13	50					0	0	0.00136819	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685743	108685743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:108685743G>A	ENST00000312143.7	-	3	1360	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	CMKLR1_ENST00000412676.1_Missense_Mutation_p.R333C|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R331C|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R331C|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R333C	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	333					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.R331G(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TTGACCAGGCGAGAGAAGAGG	0.488000													29	31					0	0	0.00127121	0	0
PPP4R4	57718	broad.mit.edu	37	14	94712823	94712823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:94712823G>A	ENST00000304338.3	+	14	1712	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	520						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.D520N(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CATATCAAGCGATCAGATTTA	0.403000													74	47					0	0	0.000781405	0	0
ADARB2	105	broad.mit.edu	37	10	1406045	1406045	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:1406045G>A	ENST00000381312.1	-	3	580	c.255C>T	c.(253-255)tcC>tcT	p.S85S		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	85					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		cccggtccccggagggcggtg	0.711000													5	8					0	0	0.000602214	0	0
FAM47B	170062	broad.mit.edu	37	X	34961603	34961603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:34961603C>T	ENST00000329357.5	+	1	691	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	219	Pro-rich.							p.R219W(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCCCAAGACTCGGGTGTCCAG	0.667000													21	2					0	0	0.00152264	0	0
STXBP5L	9515	broad.mit.edu	37	3	120976108	120976108	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:120976108C>T	ENST00000273666.6	+	17	2031	c.1760C>T	c.(1759-1761)tCa>tTa	p.S587L	STXBP5L_ENST00000497029.1_Missense_Mutation_p.S587L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S587L|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S587L|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S587L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	587					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)		CTTCCTTCTTCAAGGAGTCTT	0.418000													54	63					0	0	0.000781405	0	0
OGDHL	55753	broad.mit.edu	37	10	50952113	50952113	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:50952113G>A	ENST00000374103.4	-	14	1873	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	OGDHL_ENST00000432695.1_Silent_p.I387I|OGDHL_ENST00000419399.1_Silent_p.I539I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	596					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGTCCTCAGGGATCCCCGTGG	0.597000													25	15					0	0	0.000586117	0	0
KCTD16	57528	broad.mit.edu	37	5	143853416	143853416	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:143853416G>A	ENST00000507359.2	+	3	2117	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	KCTD16_ENST00000512467.1_Silent_p.L342L	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	342						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TCCAGACTCTGGACCGTCCCA	0.587000													23	48					0	0	0.000720815	0	0
IBA57	200205	broad.mit.edu	37	1	228362887	228362887	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:228362887C>T	ENST00000366711.3	+	3	746	c.744C>T	c.(742-744)gcC>gcT	p.A248A	IBA57_ENST00000546123.1_Silent_p.A55A|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	248					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CCAACCTGGCCTTCATGAACG	0.642000													24	78					0	0	0.000878237	0	0
ALPK3	57538	broad.mit.edu	37	15	85402590	85402590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:85402590G>A	ENST00000258888.5	+	7	4707	c.4540G>A	c.(4540-4542)Gat>Aat	p.D1514N		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1514	Ig-like 2.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATGGGCCAAGGATCAGCGCCC	0.562000													21	18					0	0	0.000586117	0	0
C8orf34	116328	broad.mit.edu	37	8	69552622	69552622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:69552622G>A	ENST00000337103.4	+	7	2376	c.784G>A	c.(784-786)Gat>Aat	p.D262N	C8orf34_ENST00000539993.1_Missense_Mutation_p.D287N|C8orf34_ENST00000325233.3_Missense_Mutation_p.D31N|C8orf34_ENST00000518698.1_Missense_Mutation_p.D373N			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	287					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GGATCTTAATGATTTAAGAAT	0.398000													22	25					0	0	0.00047179	0	0
ZNF502	91392	broad.mit.edu	37	3	44763609	44763609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:44763609C>T	ENST00000296091.4	+	4	1556	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S	ZNF502_ENST00000449836.1_Missense_Mutation_p.P434S|ZNF502_ENST00000436624.2_Missense_Mutation_p.P434S	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TGGAGAAAAACCCTATAAATG	0.423000													12	30					0	0	0.000978159	0	0
MAP3K6	9064	broad.mit.edu	37	1	27688716	27688716	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:27688716G>A	ENST00000493901.1	-	10	1520	c.1281C>T	c.(1279-1281)gcC>gcT	p.A427A	MAP3K6_ENST00000357582.2_Silent_p.A427A|MAP3K6_ENST00000374040.3_Silent_p.A419A	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	427					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCTTTGCGGGCCAGCAGGC	0.627000													9	34					0	0	0.00136819	0	0
CCDC181	57821	broad.mit.edu	37	1	169391163	169391163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:169391163G>A	ENST00000545005.1	-	4	1013	c.506C>T	c.(505-507)aCt>aTt	p.T169I	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.T169I|CCDC181_ENST00000367806.3_Missense_Mutation_p.T169I					coiled-coil domain containing 181																		AAAAGTAGTAGTGTCTTCTAG	0.353000													26	49					0	0	0.00047179	0	0
RNF113B	140432	broad.mit.edu	37	13	98829361	98829361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:98829361C>T	ENST00000267291.6	-	1	158	c.130G>A	c.(130-132)Gga>Aga	p.G44R	FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	44							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CTGCTCTCTCCGTGCTCGGGG	0.692000													10	21					0	0	0.000442599	0	0
CUBN	8029	broad.mit.edu	37	10	16967596	16967596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:16967596C>T	ENST00000377833.4	-	42	6514	c.6449G>A	c.(6448-6450)gGg>gAg	p.G2150E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2150	CUB 15.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.G2150V(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAAGTAATCCCCCTGGTTGCA	0.423000													8	28					0	0	0.000274275	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628282	173628282	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:173628282C>T	ENST00000333279.2	-	2	336	c.276G>A	c.(274-276)gtG>gtA	p.V92V		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	108										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						AAGCTCTAATCACGTCACTTT	0.398000													65	52					0	0	0.000781405	0	0
IGFL4	444882	broad.mit.edu	37	19	46543462	46543462	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:46543462T>C	ENST00000377697.1	-	3	336	c.283A>G	c.(283-285)Atg>Gtg	p.M95V	IGFL4_ENST00000601672.1_Start_Codon_SNP_p.M1V	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	95						extracellular region				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		TCTGGCTTCATGCCTGGGACC	0.592000													21	35					0	0	0.000375601	0	0
TSPAN17	26262	broad.mit.edu	37	5	176084626	176084626	+	Missense_Mutation	SNP	C	C	T	rs147674980	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:176084626C>T	ENST00000310032.8	+	9	1155	c.926C>T	c.(925-927)cCg>cTg	p.P309L	TSPAN17_ENST00000405525.2_3'UTR|TSPAN17_ENST00000298564.10_3'UTR|TSPAN17_ENST00000503045.1_Missense_Mutation_p.P286L|TSPAN17_ENST00000508164.1_Missense_Mutation_p.P306L|TSPAN17_ENST00000515708.1_3'UTR	NM_012171.2|NM_130465.4	NP_036303.1|NP_569732.2	Q96FV3	TSN17_HUMAN	tetraspanin 17	161						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			gcccctggcccggccccaccc	0.537000													6	21					0	0	0.000157383	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555149	44555149	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:44555149C>T	ENST00000330682.2	-	1	1300	c.1065G>A	c.(1063-1065)gtG>gtA	p.V355V	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	355	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGACCCCTTCCACGTCGCCGA	0.647000													47	549					0	0	0.000781405	0	0
ZNF597	146434	broad.mit.edu	37	16	3486991	3486991	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:3486991C>T	ENST00000301744.4	-	4	943	c.708G>A	c.(706-708)aaG>aaA	p.K236K	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						AGGGCTTCTCCTTTACGTGGC	0.473000													18	46					0	0	0.00074312	0	0
CHD3	1107	broad.mit.edu	37	17	7801392	7801392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:7801392G>A	ENST00000380358.4	+	12	2201	c.2200G>A	c.(2200-2202)Gaa>Aaa	p.E734K	CHD3_ENST00000358181.4_Missense_Mutation_p.E675K|CHD3_ENST00000330494.7_Missense_Mutation_p.E675K	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	675					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGAATACGAAGAACATAAGCA	0.438000													143	23					0	0	0.000781405	0	0
LRRC18	474354	broad.mit.edu	37	10	50121768	50121768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:50121768C>T	ENST00000374160.3	-	1	509	c.433G>A	c.(433-435)Gag>Aag	p.E145K	RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.E145K|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	145						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TCGTGGAGCTCCTTCAGGGCC	0.582000													7	22					0	0	0.00198382	0	0
NLRP4	147945	broad.mit.edu	37	19	56390197	56390197	+	Missense_Mutation	SNP	G	G	A	rs141409047		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:56390197G>A	ENST00000301295.6	+	9	3156	c.2734G>A	c.(2734-2736)Gat>Aat	p.D912N	NLRP4_ENST00000587891.1_Missense_Mutation_p.D837N|NLRP4_ENST00000346986.5_Missense_Mutation_p.D856N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	912							ATP binding	p.D912N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTGCTGTAAGGATCTCGCGTC	0.542000													7	48					0	0	0.000157383	0	0
LAMB1	3912	broad.mit.edu	37	7	107626734	107626734	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:107626734G>A	ENST00000393561.1	-	4	754	c.570C>T	c.(568-570)ttC>ttT	p.F190F	LAMB1_ENST00000393560.1_Silent_p.F166F|LAMB1_ENST00000222399.6_Silent_p.F166F			P07942	LAMB1_HUMAN	laminin, beta 1	166	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCATAGGCGAAGTATCTAT	0.448000													43	96					0	0	0.000781405	0	0
ATP2A1	487	broad.mit.edu	37	16	28914725	28914725	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:28914725G>A	ENST00000395503.4	+	21	3128	c.2944G>A	c.(2944-2946)Gaa>Aaa	p.E982K	ATP2A1_ENST00000536376.1_Missense_Mutation_p.E857K|ATP2A1_ENST00000357084.3_Missense_Mutation_p.E982K	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	982					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGGGCTCGACGAAATCCTCAA	0.612000													21	70					0	0	0.00188189	0	0
ARHGEF28	64283	broad.mit.edu	37	5	72980679	72980679	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:72980679G>A	ENST00000545377.1	+	2	179	c.3G>A	c.(1-3)atG>atA	p.M1I	ARHGEF28_ENST00000513042.2_Start_Codon_SNP_p.M1I|ARHGEF28_ENST00000296794.6_Start_Codon_SNP_p.M1I|ARHGEF28_ENST00000287898.5_Start_Codon_SNP_p.M1I|ARHGEF28_ENST00000426542.2_Start_Codon_SNP_p.M1I|ARHGEF28_ENST00000437974.1_Start_Codon_SNP_p.M1I	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		CGAAAGCCATGGAGTTGAGCT	0.483000													23	42					0	0	0.000375601	0	0
OSBPL2	9885	broad.mit.edu	37	20	60838688	60838688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:60838688C>T	ENST00000313733.3	+	4	401	c.199C>T	c.(199-201)Ccc>Tcc	p.P67S	OSBPL2_ENST00000439951.2_5'UTR|OSBPL2_ENST00000358053.2_Missense_Mutation_p.P55S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	67					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GCTGCCGGCTCCCATGTTCAG	0.577000													34	83					0	0	0.000953801	0	0
SHROOM2	357	broad.mit.edu	37	X	9907344	9907344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:9907344G>A	ENST00000380913.3	+	8	4339	c.4249G>A	c.(4249-4251)Gag>Aag	p.E1417K	SHROOM2_ENST00000418909.2_Missense_Mutation_p.E252K	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1417	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)				GGACCTGCAGGAGCAGCAGGA	0.602000													8	1					0	0	0.000274275	0	0
MROH2B	133558	broad.mit.edu	37	5	41057398	41057398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:41057398C>T	ENST00000399564.4	-	8	1271	c.821G>A	c.(820-822)aGa>aAa	p.R274K	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AAAGATGGATCTTCTCAAGCT	0.413000													6	2					0	0	0.00198382	0	0
THSD7B	80731	broad.mit.edu	37	2	137917850	137917850	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:137917850C>T	ENST00000409968.1	+	6	1615	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.I479I|THSD7B_ENST00000413152.2_Silent_p.I448I					thrombospondin, type I, domain containing 7B											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)		TCTGCAATATCCCTTGCTCTA	0.517000													27	44					0	0	0.00127121	0	0
SCN10A	6336	broad.mit.edu	37	3	38755466	38755466	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:38755466G>A	ENST00000449082.2	-	21	3786	c.3787C>T	c.(3787-3789)Cga>Tga	p.R1263*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1263					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)	CCTTCAAATCGAGAAAGAGCC	0.532000													37	38					0	0	0.00148497	0	0
MCM3AP	8888	broad.mit.edu	37	21	47679005	47679005	+	Splice_Site	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:47679005C>A	ENST00000397708.1	-	17	3836	c.3581_splice	c.e17-1	p.K1194_splice	MCM3AP_ENST00000291688.1_Splice_Site_p.K1194_splice|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1194					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTACTGCATTCCTAGAAACAG	0.547000													56	60					9.39563e-20	4.53411e-19	0.000781405	1	0
PABPN1	8106	broad.mit.edu	37	14	23792248	23792248	+	Silent	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:23792248T>C	ENST00000397276.2	+	3	520	c.507T>C	c.(505-507)gcT>gcC	p.A169A	BCL2L2-PABPN1_ENST00000557008.1_Silent_p.A196A|PABPN1_ENST00000557702.1_Silent_p.A41A|PABPN1_ENST00000556821.1_Silent_p.A41A|PABPN1_ENST00000216727.4_Silent_p.A169A|BCL2L2-PABPN1_ENST00000553781.1_Silent_p.A196A					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGATGGAGGCTGATGCCCGTT	0.433000													37	96					0	0	0.000589545	0	0
TBX2	6909	broad.mit.edu	37	17	59481989	59481989	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:59481989C>T	ENST00000240328.3	+	5	1191	c.910C>T	c.(910-912)Cta>Tta	p.L304L	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	304					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						GCTGCCGTCTCTACGCTTGTA	0.697000													5	8					0	0	0.00198382	0	0
TCEAL2	140597	broad.mit.edu	37	X	101382330	101382330	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:101382330G>A	ENST00000372780.1	+	3	747	c.528G>A	c.(526-528)agG>agA	p.R176R	TCEAL2_ENST00000329035.2_Silent_p.R176R	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						ACATGGCTAGGGTGGAGGATA	0.428000													59	7					0	0	0.000781405	0	0
C19orf18	147685	broad.mit.edu	37	19	58477955	58477955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:58477955G>A	ENST00000314391.3	-	4	415	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	105						integral to membrane		p.S105L(1)		large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		GGCTACGCTCGAAATTAAAAT	0.348000													67	23					0	0	0.000781405	0	0
SLC22A20	440044	broad.mit.edu	37	11	64985083	64985083	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:64985083C>T	ENST00000525437.1	+	0	596							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						TATTTCAGCTCCTTCAGTGCC	0.617000													13	19					0	0	0.000219431	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502793	140502793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140502793G>A	ENST00000194152.1	+	1	1213	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		405	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGTAACAGAGAGACCACT	0.453000													7	33					0	0	0.00198382	0	0
IL4R	3566	broad.mit.edu	37	16	27374181	27374181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:27374181C>T	ENST00000395762.2	+	11	1767	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	IL4R_ENST00000543915.2_Missense_Mutation_p.S503F|IL4R_ENST00000170630.2_Missense_Mutation_p.S503F|IL4R_ENST00000380922.3_Missense_Mutation_p.S488F	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	503	Required for IRS1 activation and IL4- induced cell growth.		S -> P (lowered total IgE concentration; dbSNP:rs1805015).		immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TTCAGCAACTCCCTGAGCCAG	0.627000													50	29					0	0	0.000781405	0	0
TINAGL1	64129	broad.mit.edu	37	1	32052509	32052509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:32052509G>A	ENST00000271064.7	+	12	1409	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	TINAGL1_ENST00000457433.2_Missense_Mutation_p.E414K|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	445					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CGGCGTCAATGAGTGCGACAT	0.682000													9	4					0	0	0.000673444	0	0
DOCK11	139818	broad.mit.edu	37	X	117731477	117731477	+	Missense_Mutation	SNP	C	C	T	rs138683152	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:117731477C>T	ENST00000276204.6	+	21	2421	c.2347C>T	c.(2347-2349)Cca>Tca	p.P783S	DOCK11_ENST00000276202.7_Missense_Mutation_p.P783S			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	783	DHR-1.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAATCTTCCCCCAGGCTACTT	0.403000													31	4					0	0	0.0024448	0	0
CYP19A1	1588	broad.mit.edu	37	15	51514528	51514528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:51514528G>A	ENST00000405913.3	-	4	744	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F	CYP19A1_ENST00000557858.1_Missense_Mutation_p.L216F|CYP19A1_ENST00000396404.4_Intron|CYP19A1_ENST00000559878.1_Intron|CYP19A1_ENST00000260433.2_Intron|CYP19A1_ENST00000396402.1_Intron|RP11-108K3.1_ENST00000559909.1_lincRNA			P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	0					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CAAGATGTGAGAGTGAAAATT	0.458000													26	24					0	0	0.00106085	0	0
DLL4	54567	broad.mit.edu	37	15	41224579	41224579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:41224579G>A	ENST00000249749.5	+	6	1060	c.784G>A	c.(784-786)Ggc>Agc	p.G262S		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	262	EGF-like 2.				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTGTCGCCACGGCACCTGCAG	0.617000													66	70					0	0	0.000781405	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588986	140588986	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140588986C>T	ENST00000239450.2	+	1	696	c.507C>T	c.(505-507)agC>agT	p.S169S	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		169	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)			CTGTAAAAAGCTACACAATAA	0.393000													15	41					0	0	0.000308642	0	0
PAPD7	11044	broad.mit.edu	37	5	6753029	6753029	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:6753029T>C	ENST00000230859.6	+	12	1442	c.1313T>C	c.(1312-1314)gTt>gCt	p.V438A		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	438					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTTGCTCCTGTTCCTTGCAGA	0.547000													67	10					0	0	0.000781405	0	0
BHMT2	23743	broad.mit.edu	37	5	78379595	78379595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:78379595G>A	ENST00000255192.3	+	7	992	c.926G>A	c.(925-927)aGg>aAg	p.R309K	BHMT2_ENST00000521567.1_Missense_Mutation_p.R245K|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	309					methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GCCCCAGAAAGGGGCTTTTTG	0.532000													20	24					0	0	0.00121646	0	0
ZBBX	79740	broad.mit.edu	37	3	167000104	167000104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:167000104G>A	ENST00000392766.2	-	19	2399	c.2059C>T	c.(2059-2061)Ctt>Ttt	p.L687F	ZBBX_ENST00000455345.2_Missense_Mutation_p.L726F|ZBBX_ENST00000307529.5_Missense_Mutation_p.L726F|ZBBX_ENST00000392764.1_Missense_Mutation_p.L658F|ZBBX_ENST00000392767.2_Missense_Mutation_p.L687F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	687						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCTAAGGAAAGCTCATTCTGG	0.353000													38	42					0	0	0.000692331	0	0
TNFSF11	8600	broad.mit.edu	37	13	43181040	43181040	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:43181040C>T	ENST00000398795.2	+	5	1089	c.721C>T	c.(721-723)Cga>Tga	p.R241*	TNFSF11_ENST00000239849.6_Nonsense_Mutation_p.R314*|TNFSF11_ENST00000405262.2_Nonsense_Mutation_p.R241*|TNFSF11_ENST00000358545.2_Nonsense_Mutation_p.R241*|TNFSF11_ENST00000544862.1_Nonsense_Mutation_p.R241*	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	314					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TTTTAAAGTTCGAGATATAGA	0.408000													20	56					0	0	0.00121646	0	0
SCAND3	114821	broad.mit.edu	37	6	28539923	28539923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:28539923G>A	ENST00000452236.2	-	4	4360	c.3743C>T	c.(3742-3744)tCa>tTa	p.S1248L		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1248					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tatccaaaatgaaggaagtga	0.373000													34	43					0	0	0.000491102	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101735366	101735366	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:101735366C>T	ENST00000506729.1	-	10	1878	c.1707G>A	c.(1705-1707)ggG>ggA	p.G569G	SLCO6A1_ENST00000379810.1_Silent_p.G316G|SLCO6A1_ENST00000513675.1_Silent_p.G316G|SLCO6A1_ENST00000379807.3_Silent_p.G569G|SLCO6A1_ENST00000389019.3_Silent_p.G507G			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	569						integral to membrane|plasma membrane	transporter activity	p.G569G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CATCACATTTCCCGGGTCTGG	0.368000													40	32					0	0	0.000509022	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519373	113519373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:113519373C>T	ENST00000284601.3	-	4	1842	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	592					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACAGCTTCTTCCCAACTTAAA	0.468000													21	115					0	0	0.000375601	0	0
WDR74	54663	broad.mit.edu	37	11	62601757	62601757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:62601757G>A	ENST00000525239.1	-	9	1303	c.766C>T	c.(766-768)Ctt>Ttt	p.L256F	WDR74_ENST00000311713.7_Missense_Mutation_p.L256F|WDR74_ENST00000278856.4_Missense_Mutation_p.L256F|WDR74_ENST00000529106.1_Missense_Mutation_p.L256F|WDR74_ENST00000525752.1_Missense_Mutation_p.L199F			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	256						nucleolus				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						CCTTGCCGAAGGTCAATTTCT	0.567000													79	54					0	0	0.000781405	0	0
DNAH10	196385	broad.mit.edu	37	12	124335607	124335607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:124335607G>A	ENST00000409039.3	+	34	5946	c.5921G>A	c.(5920-5922)gGc>gAc	p.G1974D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1974	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCTCTGAGGGCTTCCTGGAG	0.642000													15	36					0	0	0.000566183	0	0
CDH22	64405	broad.mit.edu	37	20	44806775	44806775	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:44806775G>A	ENST00000372262.3	-	10	2125	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	CDH22_ENST00000537909.1_Silent_p.F575F	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	575	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TGGGCAGGAAGAACACGTCCT	0.647000													13	29					0	0	0.00136819	0	0
SPRED2	200734	broad.mit.edu	37	2	65543943	65543943	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:65543943G>A	ENST00000356388.4	-	5	702	c.513C>T	c.(511-513)tcC>tcT	p.S171S	SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Silent_p.S168S	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	171					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GGTGCTCACAGGATGTGGGAG	0.527000													23	27					0	0	0.000375601	0	0
PKP2	5318	broad.mit.edu	37	12	32945632	32945632	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:32945632G>A	ENST00000340811.4	-	12	2499	c.2391C>T	c.(2389-2391)tcC>tcT	p.S797S	PKP2_ENST00000070846.6_Silent_p.S841S	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	841					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACAGAAGGACGGAAGCAGCTT	0.473000													48	52					0	0	0.000781405	0	0
DSCR4	10281	broad.mit.edu	37	21	39427000	39427000	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:39427000C>T	ENST00000328264.3	-	3	410	c.306G>A	c.(304-306)aaG>aaA	p.K102K	DSCR4_ENST00000398948.1_Intron	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	102										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						CATCTGATTTCTTGTGGAGCC	0.473000													50	56					0	0	0.000781405	0	0
ZNF658	26149	broad.mit.edu	37	9	40773090	40773090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:40773090G>A	ENST00000602553.1	-	5	2479	c.2185C>T	c.(2185-2187)Ctt>Ttt	p.L729F	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.L729F			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGTGCTCTAAGGGCTGAATTA	0.418000													113	17					0	0	0.000781405	0	0
SOWAHA	134548	broad.mit.edu	37	5	132150734	132150734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:132150734C>T	ENST00000378693.2	+	1	1702	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F		NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN	sosondowah ankyrin repeat domain family member A	474																	ATCCTCAGTTCCACCACCAGT	0.637000													10	10					0	0	0.000442599	0	0
OR10J3	441911	broad.mit.edu	37	1	159284216	159284216	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:159284216G>A	ENST00000332217.5	-	1	233	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TATGGGGAATGATGGCCACAG	0.483000													55	49					0	0	0.000781405	0	0
NOD2	64127	broad.mit.edu	37	16	50753891	50753891	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:50753891C>T	ENST00000300589.2	+	7	2791	c.2686C>T	c.(2686-2688)Cga>Tga	p.R896*		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	896					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CGAGGGGCTCCGAGGCAACAC	0.597000													70	41					0	0	0.000781405	0	0
IFIH1	64135	broad.mit.edu	37	2	163139026	163139026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:163139026G>A	ENST00000263642.2	-	6	1551	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	386	Helicase ATP-binding.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCAATAACACGATACCATTTC	0.338000													20	25					0	0	0.00121646	0	0
PZP	5858	broad.mit.edu	37	12	9353559	9353559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:9353559C>T	ENST00000261336.2	-	6	627	c.599G>A	c.(598-600)gGc>gAc	p.G200D	PZP_ENST00000381997.2_Missense_Mutation_p.G69D	NM_002864.2	NP_002855.2			pregnancy-zone protein											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						CCTGTAGGAGCCCTGAATGGG	0.483000													69	29					0	0	0.000781405	0	0
SSTR3	6753	broad.mit.edu	37	22	37603069	37603069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:37603069C>T	ENST00000328544.3	-	2	1307	c.774G>A	c.(772-774)atG>atA	p.M258I	SSTR3_ENST00000402501.1_Missense_Mutation_p.M258I	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	258					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CGGCCACCACCATGCGCGTGA	0.677000													53	43					0	0	0.000781405	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093053	30093053	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:30093053C>T	ENST00000567636.1	+	0	1428					NR_003558.1																						TGAACCTTCCCCCTGGACCAC	0.577000													8	5					0	0	0.000157383	0	0
IL17RE	132014	broad.mit.edu	37	3	9948696	9948696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:9948696C>T	ENST00000454190.2	+	6	663	c.578C>T	c.(577-579)aCc>aTc	p.T193I	IL17RE_ENST00000421412.1_Missense_Mutation_p.T226I|IL17RE_ENST00000295980.3_Missense_Mutation_p.T193I|IL17RE_ENST00000383814.3_Missense_Mutation_p.T193I	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	193						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		ATTCGGGTGACCATATCTTCA	0.572000													25	48					0	0	0.000586117	0	0
FANCD2	2177	broad.mit.edu	37	3	10136910	10136910	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:10136910C>T	ENST00000287647.3	+	41	4083	c.3990C>T	c.(3988-3990)acC>acT	p.T1330T	FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000419585.1_Silent_p.T1330T|FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000383807.1_Silent_p.T1330T|FANCD2OS_ENST00000436517.1_Intron	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1330					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TACTGGAAACCTTCCAGTTGG	0.428000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	14					0	0	0.00136819	0	0
CELSR2	1952	broad.mit.edu	37	1	109810212	109810212	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:109810212C>T	ENST00000271332.3	+	16	6117	c.6056C>T	c.(6055-6057)cCc>cTc	p.P2019L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2019					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGGTGGCTCCCCCCAAACCTC	0.587000													83	341					0	0	0.000781405	0	0
PSG1	5669	broad.mit.edu	37	19	43382351	43382351	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:43382351C>T	ENST00000244296.2	-	2	281	c.144G>A	c.(142-144)ggG>ggA	p.G48G	PSG1_ENST00000595356.1_Silent_p.G48G|PSG1_ENST00000403380.3_Silent_p.G48G|PSG1_ENST00000312439.6_Silent_p.G48G|PSG1_ENST00000436291.2_Silent_p.G48G|PSG1_ENST00000595124.1_Silent_p.G48G|PSG1_ENST00000601073.1_5'UTR	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GAACATCCTTCCCCTCGGAAA	0.478000													22	63					0	0	0.0024448	0	0
KMT2E	55904	broad.mit.edu	37	7	104752740	104752740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:104752740G>A	ENST00000334877.4	+	26	4945	c.4411G>A	c.(4411-4413)Gca>Aca	p.A1471T	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334914.7_Missense_Mutation_p.A568T|KMT2E_ENST00000311117.3_Missense_Mutation_p.A1513T|KMT2E_ENST00000257745.4_Missense_Mutation_p.A1513T					lysine (K)-specific methyltransferase 2E																		TACTCAGCAGGCAACTTCTGG	0.478000													84	36					0	0	0.000781405	0	0
MNDA	4332	broad.mit.edu	37	1	158819007	158819007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:158819007G>A	ENST00000368141.4	+	7	1465	c.1204G>A	c.(1204-1206)Gga>Aga	p.G402R		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	402					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.G402fs*3(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAACAAGGAAGGACCAATGAA	0.318000													22	19					0	0	0.00106085	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951972	46951972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:46951972G>A	ENST00000311124.4	-	3	432	c.280C>T	c.(280-282)Ccg>Tcg	p.P94S	SLC19A1_ENST00000567670.1_Missense_Mutation_p.P94S|SLC19A1_ENST00000485649.2_Missense_Mutation_p.P54S|SLC19A1_ENST00000380010.4_Missense_Mutation_p.P94S	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	94					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		AGCAGCACCGGCGTGTAGCGC	0.647000													16	39					0	0	0.00074312	0	0
FCGR3B	2215	broad.mit.edu	37	1	161594362	161594362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:161594362C>T	ENST00000294800.3	-	5	918	c.645G>A	c.(643-645)atG>atA	p.M215I	FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.M215I|FCGR3B_ENST00000531221.1_Missense_Mutation_p.M251I	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	215					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAAGGAGTACCATCACCAAGC	0.413000													41	26					0	0	0.000509022	0	0
EHF	26298	broad.mit.edu	37	11	34664228	34664228	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:34664228C>T	ENST00000257831.3	+	2	172	c.51C>T	c.(49-51)ctC>ctT	p.L17L	EHF_ENST00000531794.1_Silent_p.L39L|EHF_ENST00000533754.1_Silent_p.L17L|EHF_ENST00000527935.1_Silent_p.L17L|EHF_ENST00000527001.1_3'UTR|EHF_ENST00000450654.2_Silent_p.L17L|EHF_ENST00000530286.1_Silent_p.L17L|EHF_ENST00000531728.1_Silent_p.L17L	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	17					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GCAACAACCTCCTTCACCAGC	0.537000													13	26					0	0	0.000219431	0	0
RGPD8	727851	broad.mit.edu	37	2	113127769	113127769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:113127769G>A	ENST00000302558.3	-	23	5475	c.5284C>T	c.(5284-5286)Cgt>Tgt	p.R1762C	RGPD8_ENST00000409750.1_Missense_Mutation_p.R1622C	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CCAGAAGAACGGGAAGGATTT	0.299000													40	60					0	0	0.000781405	0	0
DHX9	1660	broad.mit.edu	37	1	182852480	182852480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:182852480C>T	ENST00000367549.3	+	25	3231	c.3121C>T	c.(3121-3123)Ccc>Tcc	p.P1041S	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1041					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GTACCCATCTCCCTTCTTTGT	0.343000													26	19					0	0	0.00178596	0	0
FITM1	161247	broad.mit.edu	37	14	24601566	24601566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:24601566C>T	ENST00000267426.5	+	2	702	c.413C>T	c.(412-414)gCc>gTc	p.A138V	FITM1_ENST00000559294.1_5'UTR	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	138					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TGGCGGGGAGCCGGCCGGGCC	0.672000													18	47					0	0	0.000958276	0	0
ST14	6768	broad.mit.edu	37	11	130066311	130066311	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:130066311C>T	ENST00000278742.5	+	10	1609	c.1191C>T	c.(1189-1191)tgC>tgT	p.C397C		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	397	CUB 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CGGGCACCTGCCCCAAGGACT	0.657000													6	3					0	0	0.00198382	0	0
POLI	11201	broad.mit.edu	37	18	51820381	51820381	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:51820381C>T	ENST00000579534.1	+	10	1910	c.1767C>T	c.(1765-1767)tcC>tcT	p.S589S	POLI_ENST00000217800.5_Silent_p.S463S|POLI_ENST00000406285.3_Silent_p.S510S|POLI_ENST00000579434.1_Silent_p.S486S	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	589	Ser-rich.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		ATCATTTATCCAGTAGCAAAC	0.368000								DNA polymerases (catalytic subunits)					23	43					0	0	0.000375601	0	0
HID1	283987	broad.mit.edu	37	17	72949729	72949729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:72949729C>T	ENST00000425042.2	-	15	1959	c.1882G>A	c.(1882-1884)Gag>Aag	p.E628K		NM_030630.2	NP_085133.1			HID1 domain containing																		TGGGACTTCTCGGTCAGCTTG	0.597000													12	36					0	0	0.000308642	0	0
CAMK2B	816	broad.mit.edu	37	7	44323761	44323761	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:44323761C>T	ENST00000395749.2	-	2	205	c.129G>A	c.(127-129)aaG>aaA	p.K43K	CAMK2B_ENST00000457475.1_Silent_p.K43K|CAMK2B_ENST00000395747.2_Silent_p.K43K|CAMK2B_ENST00000358707.3_Silent_p.K43K|CAMK2B_ENST00000350811.3_Silent_p.K43K|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000258682.6_Silent_p.K43K|CAMK2B_ENST00000346990.4_Silent_p.K43K|CAMK2B_ENST00000353625.4_Silent_p.K43K|CAMK2B_ENST00000347193.4_Silent_p.K43K|CAMK2B_ENST00000440254.2_Silent_p.K43K	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	43	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TGTTGATGATCTTGGCTGCAT	0.617000													9	15					0	0	0.000673444	0	0
SNTG2	54221	broad.mit.edu	37	2	1168827	1168827	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:1168827C>T	ENST00000308624.5	+	8	678	c.549C>T	c.(547-549)ctC>ctT	p.L183L	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	183					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.L183L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCTCTCCCCTCTTTGACAGCG	0.478000													86	65					0	0	0.000781405	0	0
PCDH15	65217	broad.mit.edu	37	10	55591294	55591294	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:55591294C>T	ENST00000373965.2	-	31	4399		c.e31-1		PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000409834.1_Splice_Site|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000463095.1_Splice_Site|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000320301.6_Splice_Site	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATCCAAAAATCTTTATTGTTA	0.338000										HNSCC(58;0.16)			20	10					0	0	0.00188189	0	0
VWA3B	200403	broad.mit.edu	37	2	98928305	98928305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:98928305C>T	ENST00000477737.1	+	27	3749	c.3545C>T	c.(3544-3546)tCt>tTt	p.S1182F	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1182										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCGAGGAACTCTGCTTTCCTC	0.572000													15	16					0	0	0.000566183	0	0
PCLO	27445	broad.mit.edu	37	7	82476562	82476562	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:82476562C>T	ENST00000423517.2	-	11	13993	c.13654_splice	c.e11-1	p.G4552_splice	PCLO_ENST00000333891.8_Splice_Site_p.G4552_splice|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4440					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATACTTGCATCCCTAGAAAGA	0.353000													20	6					0	0	0.00188189	0	0
SYT8	90019	broad.mit.edu	37	11	1858493	1858493	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:1858493C>T	ENST00000341958.3	+	8	1298	c.996C>T	c.(994-996)caC>caT	p.H332H	SYT8_ENST00000535046.1_3'UTR|SYT8_ENST00000381968.3_Silent_p.H346H			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	346	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCAAGGTGCACCTGGGTGCCC	0.706000													11	6					0	0	0.000978159	0	0
KANSL1	284058	broad.mit.edu	37	17	44144014	44144014	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:44144014G>A	ENST00000262419.6	-	6	2207	c.1737C>T	c.(1735-1737)ctC>ctT	p.L579L	KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Silent_p.L579L|KANSL1_ENST00000574590.1_Silent_p.L579L|KANSL1_ENST00000572904.1_Silent_p.L579L|KANSL1_ENST00000432791.1_Silent_p.L579L	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	579						MLL1 complex	protein binding										ATGAAGAGACGAGATTCAGTC	0.517000													15	29					0	0	0.00074312	0	0
RERGL	79785	broad.mit.edu	37	12	18234351	18234351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:18234351C>T	ENST00000229002.2	-	6	598	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	RERGL_ENST00000538724.1_Missense_Mutation_p.R130Q|RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000541632.1_5'UTR	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	131	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						GCCAACCTCTCGCACATGACA	0.448000													13	40					0	0	0.00136819	0	0
RIMS2	9699	broad.mit.edu	37	8	104922429	104922429	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:104922429G>A	ENST00000507740.1	+	3	1352	c.1116_splice	c.e3+1	p.L372_splice	RIMS2_ENST00000436393.2_Splice_Site_p.L342_splice|RIMS2_ENST00000406091.3_Splice_Site_p.L564_splice|RIMS2_ENST00000262231.10_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	642					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAATGTCTTTGGTGAGACATG	0.368000										HNSCC(12;0.0054)			53	123					0	0	0.000781405	0	0
COL7A1	1294	broad.mit.edu	37	3	48624918	48624918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:48624918C>T	ENST00000328333.8	-	22	3034	c.2927G>A	c.(2926-2928)tGg>tAg	p.W976*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.W976*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	976	Fibronectin type-III 9.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACTGGAGTCCAGGCCAAAGT	0.587000													31	3					0	0	0.000491102	0	0
MYH6	4624	broad.mit.edu	37	14	23870134	23870134	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:23870134C>T	ENST00000405093.3	-	13	1264	c.1194G>A	c.(1192-1194)aaG>aaA	p.K398K	MYH6_ENST00000356287.3_Silent_p.K398K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	398	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGCACAGCCCCTTGAGCAGGT	0.547000													14	31					0	0	0.000422831	0	0
ZNF263	10127	broad.mit.edu	37	16	3339984	3339984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:3339984C>T	ENST00000219069.5	+	6	2354	c.1478C>T	c.(1477-1479)cCt>cTt	p.P493L	ZNF263_ENST00000538765.1_Missense_Mutation_p.P141L	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	493					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TACAAGTGCCCTGAGTGTGGG	0.522000													7	27					0	0	0.000157383	0	0
C15orf59	388135	broad.mit.edu	37	15	74032412	74032412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:74032412G>A	ENST00000569673.1	-	3	1932	c.728C>T	c.(727-729)tCt>tTt	p.S243F	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.S243F			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	243										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGTCAGTGGAGAGCGCCGTGA	0.637000													33	41					0	0	0.00178596	0	0
MPZ	4359	broad.mit.edu	37	1	161275690	161275690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:161275690C>T	ENST00000336559.4	-	7	788	c.722G>A	c.(721-723)gGg>gAg	p.G241E	MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000491222.2_Silent_p.G45G|MPZ_ENST00000360451.6_Silent_p.G251G|MPZ_ENST00000533357.1_Silent_p.G241G			P25189	MYP0_HUMAN	myelin protein zero	241					synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGCGAGACTCCCCCAGCCCCT	0.607000													53	31					0	0	0.000781405	0	0
MAP2K1	5604	broad.mit.edu	37	15	66727569	66727569	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:66727569C>T	ENST00000307102.5	+	2	816	c.285C>T	c.(283-285)gcC>gcT	p.A95A		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	95	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TGGTCATGGCCAGAAAGGTGA	0.488000													70	43					0	0	0.000781405	0	0
IGKV6D-41	28869	broad.mit.edu	37	2	90109020	90109020	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:90109020C>T	ENST00000390271.2	+	0	311																											CCTTTACCATCAGTAGCCTGG	0.498000													30	28					0	0	0.00209593	0	0
MAS1	4142	broad.mit.edu	37	6	160328212	160328212	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:160328212C>T	ENST00000252660.4	+	1	239	c.225C>T	c.(223-225)atC>atT	p.I75I		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	75					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		ACCTGTCTATCGCAGACATCT	0.438000													102	14					0	0	0.000781405	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951458	119951458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:119951458G>A	ENST00000307142.4	+	4	1724	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.E510K|SYNPO2_ENST00000429713.2_Missense_Mutation_p.E510K	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	510						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGCCCAAAAAGAAGAGGACAA	0.522000													8	13					0	0	0.000157383	0	0
PHF8	23133	broad.mit.edu	37	X	53966798	53966798	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:53966798G>A	ENST00000338154.6	-	21	3305	c.2801C>T	c.(2800-2802)cCc>cTc	p.P934L	PHF8_ENST00000338946.6_Missense_Mutation_p.P833L|PHF8_ENST00000357988.5_Missense_Mutation_p.P970L	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	970					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						AGGAGGCAGGGGTGAGGAGGA	0.582000													10	0					0	0	0.000978159	0	0
LRP1B	53353	broad.mit.edu	37	2	141986947	141986947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:141986947G>A	ENST00000389484.3	-	6	1626	c.655C>T	c.(655-657)Ctt>Ttt	p.L219F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	219					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTCCATTAAGATAGAAAACC	0.289000										TSP Lung(27;0.18)			32	30					0	0	0.00209593	0	0
TP53TG5	27296	broad.mit.edu	37	20	44003783	44003783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:44003783C>T	ENST00000372726.3	-	4	820	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.A206T|SYS1_ENST00000426004.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	222					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						ACCCTGGGCGCCGGGAGGTGG	0.602000													48	38					0	0	0.000781405	0	0
C14orf177	283598	broad.mit.edu	37	14	99183513	99183513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:99183513C>T	ENST00000325812.2	+	4	699	c.280C>T	c.(280-282)Cac>Tac	p.H94Y		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	94										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				GTCATGTAATCACCAAATAAT	0.423000													39	28					0	0	0.00170553	0	0
DAGLA	747	broad.mit.edu	37	11	61507965	61507965	+	Silent	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:61507965T>C	ENST00000257215.5	+	18	2000	c.1884T>C	c.(1882-1884)ttT>ttC	p.F628F		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	628					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCACATACTTTGCCATCTGGG	0.607000													47	88					0	0	0.000781405	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399035	22399035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:22399035G>A	ENST00000263160.3	+	12	1935	c.1498G>A	c.(1498-1500)Gga>Aga	p.G500R		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	500					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						ATTTGCCTCAGGAGAGAAACA	0.438000													14	22					0	0	0.00185496	0	0
COL22A1	169044	broad.mit.edu	37	8	139626126	139626126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:139626126C>T	ENST00000303045.6	-	56	4408	c.3962G>A	c.(3961-3963)gGa>gAa	p.G1321E	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1301E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1321	Collagen-like 13.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCCCTTGGTCCTTGGGGACC	0.502000										HNSCC(7;0.00092)			54	185					0	0	0.000781405	0	0
MYH1	4619	broad.mit.edu	37	17	10408556	10408556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:10408556G>A	ENST00000226207.5	-	21	2453	c.2359C>T	c.(2359-2361)Cag>Tag	p.Q787*	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	787	IQ.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTAATCAGCTGGGCCAGCTTC	0.438000													80	4					0	0	0.000781405	0	0
SLC6A12	6539	broad.mit.edu	37	12	308072	308072	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:308072G>A	ENST00000428720.1	-	8	1480	c.737C>T	c.(736-738)cCg>cTg	p.P246L	SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000536824.1_Missense_Mutation_p.P246L|SLC6A12_ENST00000359674.4_Missense_Mutation_p.P246L|SLC6A12_ENST00000424061.2_Missense_Mutation_p.P246L|SLC6A12_ENST00000397296.2_Missense_Mutation_p.P246L	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	246					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			CATCAGGTACGGAAACGTGGC	0.582000													23	31					0	0	0.000878237	0	0
PDE6B	5158	broad.mit.edu	37	4	619505	619505	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:619505G>A	ENST00000255622.6	+	1	133	c.90G>A	c.(88-90)gaG>gaA	p.E30E	PDE6B_ENST00000496514.1_Silent_p.E30E	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	30					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TGAGCCCTGAGAATGTGGCCG	0.662000													22	21					0	0	0.000375601	0	0
TMEM174	134288	broad.mit.edu	37	5	72469311	72469311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:72469311G>A	ENST00000296776.5	+	1	290	c.241G>A	c.(241-243)Gtt>Att	p.V81I	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	81						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		CCTGCTGTCAGTTGGGGTGAC	0.532000													52	64					0	0	0.000781405	0	0
TMEM248	55069	broad.mit.edu	37	7	66410104	66410104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:66410104C>T	ENST00000341567.4	+	3	556	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S		NM_017994.4	NP_060464.1			transmembrane protein 248																		CACCCAGTCCCCCCAGGCCCT	0.572000													34	49					0	0	0.00058488	0	0
MYO9B	4650	broad.mit.edu	37	19	17212990	17212990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:17212990C>T	ENST00000595618.1	+	2	615	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	MYO9B_ENST00000594824.1_Missense_Mutation_p.P155S|MYO9B_ENST00000397274.2_Missense_Mutation_p.P155S	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	155	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GTGTAACCTCCCCGAGCTAAC	0.622000													50	31					0	0	0.000781405	0	0
RETNLB	84666	broad.mit.edu	37	3	108474705	108474705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:108474705C>T	ENST00000295755.6	-	3	454	c.256G>A	c.(256-258)Gat>Aat	p.D86N	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	86					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						AGCTGAACATCCCACGAACCA	0.572000													31	37					0	0	0.00178596	0	0
PSG2	5670	broad.mit.edu	37	19	43585319	43585319	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:43585319C>T	ENST00000406487.1	-	2	242	c.144G>A	c.(142-144)ggG>ggA	p.G48G		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	48	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GAACATCCTTCCCCTCGGAAA	0.478000													9	110					0	0	0.000308642	0	0
STK36	27148	broad.mit.edu	37	2	219561263	219561263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:219561263C>T	ENST00000295709.3	+	22	2804	c.2525C>T	c.(2524-2526)cCa>cTa	p.P842L	STK36_ENST00000392105.3_Intron|STK36_ENST00000440309.1_Missense_Mutation_p.P842L|STK36_ENST00000392106.2_Intron	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	842					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CGGTTGACTCCACCAGGTAGT	0.498000													49	38					0	0	0.000781405	0	0
TRIM56	81844	broad.mit.edu	37	7	100732634	100732634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:100732634C>T	ENST00000306085.6	+	3	2338	c.2041C>T	c.(2041-2043)Ccg>Tcg	p.P681S		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	681					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TGGCTGCCAGCCGGGCTCCGT	0.587000													91	33					0	0	0.000781405	0	0
FAM83E	54854	broad.mit.edu	37	19	49107041	49107041	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:49107041G>A	ENST00000263266.3	-	4	1075	c.886C>T	c.(886-888)Ccc>Tcc	p.P296S		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	296										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGTTTCTGGGGGGGCGCAGGT	0.721000													7	5					0	0	0.00198382	0	0
TENM1	10178	broad.mit.edu	37	X	123839007	123839007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:123839007G>A	ENST00000422452.2	-	5	934	c.871C>T	c.(871-873)Cct>Tct	p.P291S	TENM1_ENST00000371130.3_Missense_Mutation_p.P291S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GGCCTGGGAGGGGGCGAGTAC	0.527000													40	7					0	0	0.00222228	0	0
DPP4	1803	broad.mit.edu	37	2	162865131	162865131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:162865131C>T	ENST00000360534.3	-	22	2488	c.1928G>A	c.(1927-1929)gGa>gAa	p.G643E	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	643					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	CACGCCACTTCCCGATCCCAG	0.463000													50	60					0	0	0.000781405	0	0
PGBD1	84547	broad.mit.edu	37	6	28268885	28268885	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:28268885C>T	ENST00000405948.2	+	7	1674	c.1254C>T	c.(1252-1254)aaC>aaT	p.N418N	PGBD1_ENST00000259883.3_Silent_p.N418N	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	418					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAAAGTTGAACCCAGTAGAGC	0.358000													40	86					0	0	0.00222228	0	0
POLR3B	55703	broad.mit.edu	37	12	106824229	106824229	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:106824229C>G	ENST00000228347.4	+	14	1664	c.1442C>G	c.(1441-1443)cCt>cGt	p.P481R	POLR3B_ENST00000539066.1_Missense_Mutation_p.P423R	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	481					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ATGCTGTGTCCTTCGGACACT	0.527000													16	44					0	0	0.00074312	0	0
TNRC6A	27327	broad.mit.edu	37	16	24803029	24803029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:24803029G>A	ENST00000395799.3	+	6	3195	c.3066G>A	c.(3064-3066)tgG>tgA	p.W1022*	TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.W1022*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1022	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGAACATGTGGAACAAAAACG	0.458000													19	35					0	0	0.00121646	0	0
ROR2	4920	broad.mit.edu	37	9	94499761	94499761	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:94499761C>T	ENST00000375708.3	-	5	732	c.534G>A	c.(532-534)cgG>cgA	p.R178R	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.R38R	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	178	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGCAATTCCCCGGTAAGGCT	0.532000													35	5					0	0	0.00148497	0	0
ZNF585A	199704	broad.mit.edu	37	19	37660790	37660790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:37660790G>A	ENST00000356958.4	-	2	281	c.23C>T	c.(22-24)cCt>cTt	p.P8L	ZNF585A_ENST00000588354.1_Missense_Mutation_p.P8L|ZNF585A_ENST00000588723.1_5'UTR|CTC-454I21.3_ENST00000585860.2_3'UTR|ZNF585A_ENST00000355533.2_5'UTR|ZNF585A_ENST00000392157.2_5'UTR|ZNF585A_ENST00000292841.5_5'UTR			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGATTTCTGAGGTGAGGTCCA	0.537000													11	12					0	0	0.00136819	0	0
HERC2P2	400322	broad.mit.edu	37	15	23299951	23299951	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:23299951G>A	ENST00000560464.1	-	0	4336																											GCACCAGTGAGAGACTTCAGG	0.577000													13	11					0	0	0.000308642	0	0
TTN	7273	broad.mit.edu	37	2	179427361	179427361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:179427361C>T	ENST00000589042.1	-	326	83722	c.83498G>A	c.(83497-83499)gGa>gAa	p.G27833E	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G18960E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G25265E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G18893E|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G18768E|TTN_ENST00000591111.1_Missense_Mutation_p.G26192E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26192	Ig-like 130.						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)			GTAAGAACATCCTTCTTGTAG	0.388000													37	51					0	0	0.000814825	0	0
PCSK5	5125	broad.mit.edu	37	9	78804657	78804657	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:78804657A>G	ENST00000545128.1	+	20	3159	c.2621A>G	c.(2620-2622)aAg>aGg	p.K874R	PCSK5_ENST00000376752.4_Missense_Mutation_p.K874R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	874	PLAC.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCCATTTGCAAGGATGGTGAG	0.408000													34	5					0	0	0.000491102	0	0
FAIM2	23017	broad.mit.edu	37	12	50295080	50295080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:50295080G>A	ENST00000320634.3	-	2	138	c.44C>T	c.(43-45)aCc>aTc	p.T15I	FAIM2_ENST00000550890.1_5'UTR	NM_012306.3	NP_036438.2	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	15					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						CTGCCCCTCGGTCCCAGGGGC	0.607000													33	41					0	0	0.000814825	0	0
BTN1A1	696	broad.mit.edu	37	6	26505394	26505394	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:26505394C>T	ENST00000244513.6	+	3	735	c.669C>T	c.(667-669)ctC>ctT	p.L223L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	223	Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCCAGAATCTCCTTCTTGGCC	0.463000													41	66					0	0	0.000589545	0	0
ADAM18	8749	broad.mit.edu	37	8	39564414	39564414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:39564414C>T	ENST00000265707.5	+	18	2053	c.2008C>T	c.(2008-2010)Cag>Tag	p.Q670*	ADAM18_ENST00000379866.1_Nonsense_Mutation_p.Q646*|ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Nonsense_Mutation_p.Q84*	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	670					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)			TGGAAATTTTCAGAAATCTGG	0.328000													38	51					0	0	0.000953801	0	0
PMFBP1	83449	broad.mit.edu	37	16	72170436	72170436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:72170436C>T	ENST00000537465.1	-	9	1272	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	PMFBP1_ENST00000355636.6_Missense_Mutation_p.D227N|PMFBP1_ENST00000237353.10_Missense_Mutation_p.D372N			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	372										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ATGTCCTTATCCTTCCTCTCA	0.552000													57	31					0	0	0.000781405	0	0
ASPH	444	broad.mit.edu	37	8	62489367	62489367	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:62489367G>A	ENST00000541428.1	-	16	1186	c.1026C>T	c.(1024-1026)taC>taT	p.Y342Y	ASPH_ENST00000379454.4_Silent_p.Y371Y	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	371					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GACTCTGAGGGTATTTGCGTA	0.348000													45	62					0	0	0.000781405	0	0
FAM46B	115572	broad.mit.edu	37	1	27339028	27339028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:27339028G>A	ENST00000289166.5	-	1	299	c.134C>T	c.(133-135)cCc>cTc	p.P45L		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	45										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GTGCCGTCCGGGGAAGGCCGA	0.731000													4	19					0	0	0.00024832	0	0
C20orf194	25943	broad.mit.edu	37	20	3297413	3297413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:3297413G>A	ENST00000252032.9	-	18	1563	c.1496C>T	c.(1495-1497)tCc>tTc	p.S499F	C20orf194_ENST00000453730.2_Missense_Mutation_p.S237F	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	499										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CAGGACTACGGAGCTGGTTTC	0.532000													13	35					0	0	0.000566183	0	0
TSIX	9383	broad.mit.edu	37	X	73041479	73041479	+	RNA	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:73041479C>A	ENST00000604411.1	+	0	29440				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GGCAGGTTGCCCTTAAAACAG	0.428000													12	0					4.3838e-07	2.09523e-06	0.00185496	1	0
FAM47B	170062	broad.mit.edu	37	X	34961628	34961628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:34961628C>T	ENST00000329357.5	+	1	716	c.680C>T	c.(679-681)cCt>cTt	p.P227L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	227	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CGCCCAGAGCCTCCCAAGACT	0.647000													21	2					0	0	0.00188189	0	0
CDH26	60437	broad.mit.edu	37	20	58567442	58567442	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:58567442G>A	ENST00000348616.4	+	10	1593	c.1293G>A	c.(1291-1293)ctG>ctA	p.L431L	CDH26_ENST00000244047.5_Silent_p.L431L	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	431	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GATATGAACTGGTTCATGACC	0.363000													18	39					0	0	0.000566183	0	0
UEVLD	55293	broad.mit.edu	37	11	18596940	18596940	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:18596940C>T	ENST00000396197.3	-	3	175	c.147G>A	c.(145-147)caG>caA	p.Q49Q	UEVLD_ENST00000320750.6_Intron|UEVLD_ENST00000541984.1_Silent_p.Q49Q|UEVLD_ENST00000300038.7_Silent_p.Q49Q|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000535484.1_Silent_p.Q11Q|UEVLD_ENST00000543987.1_Silent_p.Q49Q|UEVLD_ENST00000379387.4_Intron	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	49	UEV.				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GCAGGTCTTTCTGAGAACTAT	0.338000													58	41					0	0	0.000781405	0	0
SPAG17	200162	broad.mit.edu	37	1	118598527	118598527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:118598527C>T	ENST00000336338.5	-	19	2616	c.2551G>A	c.(2551-2553)Gaa>Aaa	p.E851K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	851						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCAACAAGTTCCAAATAATTC	0.318000													69	30					0	0	0.000781405	0	0
SUDS3	64426	broad.mit.edu	37	12	118827739	118827739	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:118827739C>T	ENST00000543473.1	+	5	660	c.348C>T	c.(346-348)ttC>ttT	p.F116F	SUDS3_ENST00000397564.2_Intron	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	116					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGAACTCTTCCTCCAGCTGG	0.448000													18	24					0	0	0.000566183	0	0
RPA3	6119	broad.mit.edu	37	7	7676679	7676679	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:7676679G>A	ENST00000223129.4	-	8	1489	c.318C>T	c.(316-318)atC>atT	p.I106I	RPA3_ENST00000406109.1_Silent_p.I67I|RPA3_ENST00000401447.1_Silent_p.I67I|RPA3_ENST00000396682.2_Silent_p.I106I	NM_002947.3	NP_002938.1	P35244	RFA3_HUMAN	replication protein A3, 14kDa	106					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		GGAAGTCATGGATAATTTTCA	0.294000								Direct reversal of damage;Nucleotide excision repair (NER)					90	128					0	0	0.000781405	0	0
DNMBP	23268	broad.mit.edu	37	10	101715158	101715158	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:101715158G>A	ENST00000342239.3	-	4	2164	c.2073C>T	c.(2071-2073)tgC>tgT	p.C691C	DNMBP_ENST00000324109.4_Silent_p.C691C|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	691					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GCACTAAGGGGCATGGGGAGG	0.532000													23	0					0	0	0.00047179	0	0
TPD52	7163	broad.mit.edu	37	8	80962686	80962686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:80962686G>A	ENST00000518937.1	-	5	622	c.407C>T	c.(406-408)tCc>tTc	p.S136F	TPD52_ENST00000520527.1_Missense_Mutation_p.S176F|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000537855.1_Intron|TPD52_ENST00000523395.1_Intron|TPD52_ENST00000379096.5_Intron|TPD52_ENST00000448733.2_Intron|TPD52_ENST00000379097.3_Intron|TPD52_ENST00000517427.1_Missense_Mutation_p.S176F	NM_001025253.1	NP_001020424.1	P55327	TPD52_HUMAN	tumor protein D52	169					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			TTACCTAAAGGAATGTGAAAA	0.348000													15	11					0	0	0.00074312	0	0
NUTM1	256646	broad.mit.edu	37	15	34649428	34649428	+	Silent	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:34649428T>C	ENST00000537011.1	+	8	3601	c.3219T>C	c.(3217-3219)ggT>ggC	p.G1073G	NUTM1_ENST00000438749.3_Silent_p.G1063G|NUTM1_ENST00000333756.4_Silent_p.G1045G					NUT midline carcinoma, family member 1																		CCTCAGGAGGTCAGGGCAGCC	0.557000													12	63					0	0	0.00136819	0	0
SNTG2	54221	broad.mit.edu	37	2	1168853	1168853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:1168853G>A	ENST00000308624.5	+	8	704	c.575G>A	c.(574-576)gGa>gAa	p.G192E	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	192					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CATCTGAACGGAAACTCCAGT	0.443000													48	99					0	0	0.000781405	0	0
FSTL4	23105	broad.mit.edu	37	5	132939621	132939621	+	Silent	SNP	C	C	T	rs148304695		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:132939621C>T	ENST00000265342.7	-	2	303	c.54G>A	c.(52-54)ccG>ccA	p.P18P		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	18						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAGCGCAGCCGGCAGGGAGG	0.527000													37	38					0	0	0.00128727	0	0
SEMA5B	54437	broad.mit.edu	37	3	122667507	122667507	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:122667507G>A	ENST00000195173.4	-	3	477	c.174C>T	c.(172-174)atC>atT	p.I58I	SEMA5B_ENST00000357599.3_Silent_p.I58I|SEMA5B_ENST00000451055.2_Silent_p.I112I|SEMA5B_ENST00000465147.1_5'UTR			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	58					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAAGCACCATGATAGGCCCCT	0.627000													17	30					0	0	0.000566183	0	0
RNF17	56163	broad.mit.edu	37	13	25444865	25444865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:25444865G>A	ENST00000255324.5	+	32	4487	c.4435G>A	c.(4435-4437)Gat>Aat	p.D1479N	RNF17_ENST00000381921.1_Missense_Mutation_p.D1437N|RNF17_ENST00000339524.3_Missense_Mutation_p.D489N	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1479	Tudor 4.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCCTCTGACGGATTTTAGAAC	0.418000													8	13					0	0	0.000157383	0	0
ABCC10	89845	broad.mit.edu	37	6	43401062	43401062	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:43401062C>T	ENST00000244533.3	+	1	1574	c.1215C>T	c.(1213-1215)aaC>aaT	p.N405N	ABCC10_ENST00000443426.2_3'UTR|ABCC10_ENST00000372530.4_Silent_p.N448N	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	448	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGGCCAGCAACCAGGAAATGC	0.597000													8	18					0	0	0.000274275	0	0
PAK1	5058	broad.mit.edu	37	11	77066759	77066759	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:77066759C>T	ENST00000356341.3	-	7	1257	c.726G>A	c.(724-726)caG>caA	p.Q242Q	PAK1_ENST00000278568.4_Silent_p.Q242Q|PAK1_ENST00000525542.1_Intron|PAK1_ENST00000530617.1_Silent_p.Q242Q|PAK1_ENST00000528203.1_Silent_p.Q144Q	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	242	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GCTTCTTCTTCTGCTTCTCAG	0.438000													69	55					0	0	0.000781405	0	0
PTPDC1	138639	broad.mit.edu	37	9	96860102	96860102	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:96860102C>T	ENST00000375360.3	+	7	1432	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S	PTPDC1_ENST00000288976.3_Silent_p.S416S	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	364							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TGATTTTCTCCAATGAGCAAC	0.488000													62	7					0	0	0.000781405	0	0
TDRD5	163589	broad.mit.edu	37	1	179632549	179632549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:179632549G>A	ENST00000444136.1	+	16	2822	c.2572G>A	c.(2572-2574)Gga>Aga	p.G858R	TDRD5_ENST00000367614.1_Missense_Mutation_p.G804R|TDRD5_ENST00000294848.8_Missense_Mutation_p.G804R	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	835					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CCTTGTAAATGGAACGAAAGT	0.398000													30	29					0	0	0.0024448	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713875	142713875	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:142713875G>A	ENST00000369381.2	-	0	730																											TCCTGATTATGAAAATCCTAA	0.299000													7	52					0	0	0.000673444	0	0
GP6	51206	broad.mit.edu	37	19	55525799	55525799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:55525799G>A	ENST00000310373.3	-	8	1541	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L	CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000417454.1_3'UTR|GP6_ENST00000333884.2_3'UTR	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	0					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TCTGAGAGACGAAAGGAGATT	0.498000													39	161					0	0	0.00222228	0	0
GABRR1	2569	broad.mit.edu	37	6	89910970	89910970	+	Missense_Mutation	SNP	C	C	T	rs146686910	byFrequency	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:89910970C>T	ENST00000435811.1	-	2	591	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	GABRR1_ENST00000454853.2_Missense_Mutation_p.R63Q|GABRR1_ENST00000369451.3_5'UTR	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	63					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GTCAGGACTTCGTCTCAGAAT	0.453000													44	8					0	0	0.000781405	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820261	159820261	+	RNA	SNP	G	G	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:159820261G>T	ENST00000497452.1	-	0	517																											GAAGAAATTTGGTGAGACCAC	0.463000													64	87					1.26778e-28	6.13607e-28	0.000781405	1	0
TSPAN17	26262	broad.mit.edu	37	5	176083872	176083872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:176083872C>T	ENST00000298564.10	+	4	627	c.478C>T	c.(478-480)Cct>Tct	p.P160S	TSPAN17_ENST00000405525.2_Intron|TSPAN17_ENST00000503045.1_Intron|TSPAN17_ENST00000310032.8_Intron|TSPAN17_ENST00000508164.1_Intron|TSPAN17_ENST00000515708.1_Intron			Q96FV3	TSN17_HUMAN	tetraspanin 17	247						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCACTCTCCCCTCACCTGTC	0.627000													11	28					0	0	0.000958276	0	0
TTN	7273	broad.mit.edu	37	2	179603052	179603052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:179603052C>T	ENST00000589042.1	-	49	14352	c.14128G>A	c.(14128-14130)Gaa>Aaa	p.E4710K	TTN_ENST00000342175.6_Missense_Mutation_p.E4539K|TTN_ENST00000342992.6_Missense_Mutation_p.E3466K|TTN_ENST00000359218.5_Missense_Mutation_p.E4472K|TTN_ENST00000460472.2_Missense_Mutation_p.E4347K|TTN_ENST00000591111.1_Missense_Mutation_p.E4393K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4393	Ig-like 27.						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)			AGTGCTACTTCCAGGGGTTCG	0.468000													18	10					0	0	0.00152264	0	0
MTL5	9633	broad.mit.edu	37	11	68514739	68514739	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:68514739G>A	ENST00000443940.2	-	3	653	c.567C>T	c.(565-567)ttC>ttT	p.F189F	MTL5_ENST00000255087.5_Silent_p.F189F|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Silent_p.F189F			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	189					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GGGACGATGGGAACTTGCAAC	0.418000													31	18					0	0	0.00209593	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754309	140754309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140754309C>T	ENST00000517434.1	+	1	659	c.659C>T	c.(658-660)cCt>cTt	p.P220L	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGCGACCCTGTCCGCTCA	0.557000													6	12					0	0	0.00116845	0	0
DNM3	26052	broad.mit.edu	37	1	171890898	171890898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:171890898C>T	ENST00000358155.4	+	2	348	c.172C>T	c.(172-174)Cct>Tct	p.P58S	DNM3_ENST00000367733.2_Missense_Mutation_p.P58S|DNM3_ENST00000355305.5_Missense_Mutation_p.P58S|DNM3_ENST00000520906.1_Missense_Mutation_p.P58S|DNM3_ENST00000367731.1_Missense_Mutation_p.P58S	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	58					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGACTTTCTCCCTCGAGGGTC	0.413000													6	12					0	0	0.00116845	0	0
TGM6	343641	broad.mit.edu	37	20	2380989	2380989	+	Silent	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:2380989C>A	ENST00000202625.2	+	7	949	c.888C>A	c.(886-888)tcC>tcA	p.S296S	TGM6_ENST00000381423.1_Silent_p.S296S|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	296					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GGGTCGTGTCCAACTTCAACT	0.617000													5	60					8.12818e-05	0.000386552	0.00198382	1	0
PLAUR	5329	broad.mit.edu	37	19	44160715	44160715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:44160715C>T	ENST00000221264.4	-	4	814	c.388G>A	c.(388-390)Ggc>Agc	p.G130S	PLAUR_ENST00000340093.3_Missense_Mutation_p.G130S|PLAUR_ENST00000601723.1_Missense_Mutation_p.G130S|PLAUR_ENST00000339082.3_Missense_Mutation_p.G130S	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	130	UPAR/Ly6 2.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	TGGTGCCGGCCCCTCTCACAG	0.602000													19	34					0	0	0.000958276	0	0
CNST	163882	broad.mit.edu	37	1	246810669	246810669	+	Missense_Mutation	SNP	C	C	T	rs149528217		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:246810669C>T	ENST00000366513.4	+	9	1435	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F	CNST_ENST00000366512.3_Missense_Mutation_p.S389F|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	389					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GGGCCAGACTCTTCTGAGGAT	0.592000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	118	55					0	0	0.000781405	0	0
EMX1	2016	broad.mit.edu	37	2	73160970	73160970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:73160970G>A	ENST00000258106.6	+	3	1138	c.760G>A	c.(760-762)Gag>Aag	p.E254K	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	221						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(3)	6						GAAGCTGGAGGAGGAAGGGCC	0.597000													25	38					0	0	0.00127121	0	0
DIP2A	23181	broad.mit.edu	37	21	47969774	47969774	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:47969774C>T	ENST00000318711.7	+	22	2799	c.2616C>T	c.(2614-2616)ttC>ttT	p.F872F	DIP2A_ENST00000400274.1_Silent_p.F867F|DIP2A_ENST00000417564.2_Silent_p.F871F|DIP2A_ENST00000457905.3_Silent_p.F871F|DIP2A_ENST00000427143.2_Silent_p.F807F	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	871					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		AGGACAGCTTCCAGTGGATGA	0.647000													63	60					0	0	0.000781405	0	0
MIR1324	100302212	broad.mit.edu	37	3	75679929	75679929	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:75679929G>A	ENST00000408868.1	+	0	16					NR_031714.1																						AGAGGTGCATGAAGCCTGGTC	0.562000													9	39					0	0	0.000978159	0	0
GALNT13	114805	broad.mit.edu	37	2	154801055	154801055	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:154801055G>A	ENST00000392825.3	+	3	612	c.45G>A	c.(43-45)ctG>ctA	p.L15L	GALNT13_ENST00000409237.1_Silent_p.L15L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	15						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CCACTTCGCTGATGTGGGTTC	0.418000													67	72					0	0	0.000781405	0	0
C12orf66	144577	broad.mit.edu	37	12	64588126	64588126	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:64588126G>A	ENST00000311915.8	-	3	861	c.834C>T	c.(832-834)agC>agT	p.S278S	C12orf66_ENST00000398055.3_Silent_p.S278S|C12orf66_ENST00000544871.1_Silent_p.S225S			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	278										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						TCGTTTGTCGGCTCAGAGCCT	0.433000													48	19					0	0	0.000781405	0	0
ESRRB	2103	broad.mit.edu	37	14	76958020	76958020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:76958020G>A	ENST00000380887.2	+	6	1090	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	ESRRB_ENST00000556177.1_Missense_Mutation_p.E340K|ESRRB_ENST00000261532.7_Missense_Mutation_p.E340K|ESRRB_ENST00000509242.1_Missense_Mutation_p.E340K			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	340						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GGAGAAGGAGGAGTTTGTGAC	0.647000													5	2					0	0	0.00116845	0	0
ZNF257	113835	broad.mit.edu	37	19	22271622	22271622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:22271622C>T	ENST00000594947.1	+	4	1214	c.1070C>T	c.(1069-1071)tCa>tTa	p.S357L		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AACCGGTCTTCACACCTTACT	0.408000													25	14					0	0	0.00047179	0	0
PROKR1	10887	broad.mit.edu	37	2	68872977	68872977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:68872977G>A	ENST00000303786.3	+	2	444	c.24G>A	c.(22-24)atG>atA	p.M8I	PROKR1_ENST00000394342.2_Missense_Mutation_p.M8I			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	8						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGGGGTTCATGGATGACAATG	0.547000													49	65					0	0	0.000781405	0	0
STON2	85439	broad.mit.edu	37	14	81743428	81743428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:81743428G>A	ENST00000555447.1	-	6	2639	c.2227C>T	c.(2227-2229)Cgc>Tgc	p.R743C	STON2_ENST00000267540.2_Missense_Mutation_p.R743C	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	743	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CTTTCCCTGCGGAAGTTTTTC	0.537000													27	79					0	0	0.00106085	0	0
ACTN3	89	broad.mit.edu	37	11	66321562	66321562	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:66321562C>T	ENST00000513398.1	+	0	526				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TGATCTGGACCATCATCCTTC	0.567000													11	20					0	0	0.00185496	0	0
DAB2	1601	broad.mit.edu	37	5	39376177	39376177	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:39376177G>A	ENST00000545653.1	-	12	2636	c.2106C>T	c.(2104-2106)tcC>tcT	p.S702S	DAB2_ENST00000509337.1_Silent_p.S702S|DAB2_ENST00000320816.6_Silent_p.S723S|DAB2_ENST00000339788.6_Silent_p.S505S	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	723	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TAACTGGCAGGGAAACTTGTC	0.433000													28	3					0	0	0.00209593	0	0
EIF3D	8664	broad.mit.edu	37	22	36912528	36912528	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:36912528G>A	ENST00000216190.8	-	12	1573	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	EIF3D_ENST00000405442.1_Silent_p.S401S|EIF3D_ENST00000541106.1_Silent_p.S352S	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	401						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						GGCTCACCCTGGAATCCCACT	0.493000													69	107					0	0	0.000781405	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42796807	42796807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:42796807C>T	ENST00000314073.5	+	6	912	c.736C>T	c.(736-738)Cca>Tca	p.P246S	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.P246S					GLTSCR1-like																		GCAGCAAGCCCCATCAAATGT	0.443000													40	63					0	0	0.00128727	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643784	37643784	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:37643784G>A	ENST00000356958.4	-	5	1275	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Silent_p.S284S|ZNF585A_ENST00000392157.2_Silent_p.S284S|ZNF585A_ENST00000292841.5_Silent_p.S284S			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAACGAGGTTGGAATTATTGC	0.403000													28	56					0	0	0.00127121	0	0
KRT16	3868	broad.mit.edu	37	17	39768789	39768789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:39768789G>A	ENST00000301653.4	-	1	216	c.152C>T	c.(151-153)tCt>tTt	p.S51F		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	51	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AGAGGAGACAGACAGGCCGCC	0.716000													8	2					0	0	0.000157383	0	0
SKIV2L	6499	broad.mit.edu	37	6	31930846	31930846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:31930846C>T	ENST00000375394.2	+	13	1494	c.1381C>T	c.(1381-1383)Ctt>Ttt	p.L461F	SKIV2L_ENST00000544581.1_Missense_Mutation_p.L268F	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	461	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CCCCAACGCCCTTGAGTTTGC	0.582000													164	193					0	0	0.000781405	0	0
PPM1D	8493	broad.mit.edu	37	17	58678186	58678186	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:58678186G>A	ENST00000305921.3	+	1	643	c.411G>A	c.(409-411)aaG>aaA	p.K137K		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	137	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AGCCGGCTAAGGTTTGCGCTG	0.602000													57	36					0	0	0.000781405	0	0
C4B	721	broad.mit.edu	37	6	31996295	31996295	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:31996295G>A	ENST00000435363.2	+	25	3300	c.3216G>A	c.(3214-3216)cgG>cgA	p.R1072R	C4B_ENST00000425700.2_Silent_p.R1072R	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1072					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GGTTGTCACGGGGCAGCAGCA	0.627000													38	38					0	0	0.000589545	0	0
LEKR1	389170	broad.mit.edu	37	3	156710923	156710923	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:156710923A>T	ENST00000470811.1	+	10	1389	c.54A>T	c.(52-54)aaA>aaT	p.K18N	LEKR1_ENST00000356539.4_Missense_Mutation_p.K322N			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	38										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGATATATAAAGCATTACAGG	0.338000													44	68					0	0	0.000509022	0	0
GABRG1	2565	broad.mit.edu	37	4	46053484	46053484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:46053484C>T	ENST00000295452.4	-	8	1255	c.1088G>A	c.(1087-1089)gGa>gAa	p.G363E		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	363					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGCAGTCTTTCCTTTTTGGTT	0.328000													7	10					0	0	0.00198382	0	0
PRPF4B	8899	broad.mit.edu	37	6	4041016	4041016	+	Missense_Mutation	SNP	C	C	T	rs143126415		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:4041016C>T	ENST00000337659.6	+	4	1523	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R461W	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	475	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GGACAGAGGTCGGAGGAGCAG	0.438000													19	90					0	0	0.00152264	0	0
RBMX	27316	broad.mit.edu	37	X	135956521	135956521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:135956521C>T	ENST00000320676.7	-	9	1110	c.956G>A	c.(955-957)gGa>gAa	p.G319E	RBMX_ENST00000565438.1_Missense_Mutation_p.G191E|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Missense_Mutation_p.G184E|RBMX_ENST00000562646.1_3'UTR	NM_002139.3	NP_002130.2	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	319						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TCCACCATATCCGTCACGTGA	0.542000													19	66					0	0	0.00127121	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46057967	46057967	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:46057967C>T	ENST00000536708.2	+	12	1270	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	CDK5RAP3_ENST00000338399.4_Silent_p.I362I|CDK5RAP3_ENST00000578663.1_3'UTR|RP11-6N17.10_ENST00000578239.1_RNA	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	362					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						AGCTTGAGATCTTCTTAGCCC	0.547000													65	175					0	0	0.000781405	0	0
SNAPC2	6618	broad.mit.edu	37	19	7987171	7987171	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:7987171G>A	ENST00000221573.6	+	4	675	c.624G>A	c.(622-624)aaG>aaA	p.K208K	SNAPC2_ENST00000597584.1_5'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	208					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						ACTTTGAGAAGATCTACAAGT	0.592000													27	64					0	0	0.00178596	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22969277	22969277	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:22969277C>T	ENST00000356864.3	+	2	637	c.105C>T	c.(103-105)ccC>ccT	p.P35P	TNFRSF10C_ENST00000540813.1_Intron|TNFRSF10C_ENST00000520607.1_3'UTR	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	35					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		AGGAAGTTCCCCAGCAGACAG	0.532000													8	15					0	0	0.000978159	0	0
ZNF701	55762	broad.mit.edu	37	19	53085749	53085749	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:53085749C>T	ENST00000540331.1	+	5	860	c.635C>T	c.(634-636)tCg>tTg	p.S212L	ZNF701_ENST00000391785.3_Missense_Mutation_p.S146L|ZNF701_ENST00000301093.2_Missense_Mutation_p.S212L|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGCTTTCATTCGCATCTGCCT	0.408000													24	122					0	0	0.00106085	0	0
FSIP2	401024	broad.mit.edu	37	2	186673333	186673333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:186673333G>A	ENST00000343098.5	+	17	19567	c.19567G>A	c.(19567-19569)Gga>Aga	p.G6523R	FSIP2_ENST00000424728.1_Missense_Mutation_p.G6434R	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GCAACAATCAGGAACCAACAA	0.313000													36	31					0	0	0.000692331	0	0
CCDC158	339965	broad.mit.edu	37	4	77305440	77305440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:77305440C>T	ENST00000388914.3	-	5	679	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	CCDC158_ENST00000434846.2_Missense_Mutation_p.R176Q	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	176										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CATCATTTTTCGTAGTTGCTC	0.398000													39	43					0	0	0.000509022	0	0
RYR3	6263	broad.mit.edu	37	15	34130518	34130518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:34130518G>A	ENST00000389232.4	+	89	12407	c.12337G>A	c.(12337-12339)Gag>Aag	p.E4113K	RYR3_ENST00000415757.3_Missense_Mutation_p.E4108K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4113					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			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)		CAGGCCAGAAGAGGAGGAAGA	0.473000													92	83					0	0	0.000781405	0	0
BHMT2	23743	broad.mit.edu	37	5	78379596	78379596	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:78379596G>A	ENST00000255192.3	+	7	993	c.927G>A	c.(925-927)agG>agA	p.R309R	BHMT2_ENST00000521567.1_Silent_p.R245R|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	309					methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	CCCCAGAAAGGGGCTTTTTGC	0.527000													21	25					0	0	0.00188189	0	0
IFNAR2	3455	broad.mit.edu	37	21	34635104	34635104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:34635104C>T	ENST00000342136.4	+	9	1173	c.847C>T	c.(847-849)Cat>Tat	p.H283Y	IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000413881.1_Missense_Mutation_p.S167L|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000342101.3_Missense_Mutation_p.S239L|IFNAR2_ENST00000382241.3_Missense_Mutation_p.H283Y			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	283					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TAAGAATTTTCATAACTTTTT	0.373000													36	50					0	0	0.00148497	0	0
MYH11	4629	broad.mit.edu	37	16	15815296	15815296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:15815296C>T	ENST00000338282.6	-	32	4667	c.4561G>A	c.(4561-4563)Gat>Aat	p.D1521N	MYH11_ENST00000576790.1_Missense_Mutation_p.D1521N|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.D1528N|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.D1528N|MYH11_ENST00000300036.5_Missense_Mutation_p.D1521N|NDE1_ENST00000342673.5_Intron	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1521					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCCACGTCATCCTTGGAGCTG	0.557000			T	CBFB	AML								35	26					0	0	0.00111076	0	0
ZNF496	84838	broad.mit.edu	37	1	247464520	247464520	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:247464520G>A	ENST00000294753.4	-	9	1529	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Silent_p.I391I	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	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													18	78					0	0	0.00121646	0	0
ZFHX3	463	broad.mit.edu	37	16	72829102	72829102	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:72829102G>A	ENST00000268489.5	-	9	8151	c.7479C>T	c.(7477-7479)ccC>ccT	p.P2493P	ZFHX3_ENST00000397992.5_Silent_p.P1579P	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2493					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACTGGGGTAAGGGGCACTGTG	0.637000													40	22					0	0	0.00222228	0	0
CR1L	1379	broad.mit.edu	37	1	207867858	207867858	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:207867858C>T	ENST00000508064.2	+	5	684	c.624C>T	c.(622-624)acC>acT	p.T208T	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	208	Sushi 3.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TATACTGCACCAGCAAAGATG	0.468000													53	143					0	0	0.000781405	0	0
PLD5	200150	broad.mit.edu	37	1	242271141	242271141	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:242271141C>T	ENST00000442594.2	-	9	1304	c.794_splice	c.e9-1	p.R265_splice	PLD5_ENST00000536534.1_Splice_Site_p.R357_splice|PLD5_ENST00000427495.1_Splice_Site_p.R295_splice	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	357						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GCCAGTAAGTCCTGCAGAAAT	0.353000													63	43					0	0	0.000781405	0	0
TESK2	10420	broad.mit.edu	37	1	45810872	45810872	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:45810872G>A	ENST00000372086.3	-	11	1756	c.1356C>T	c.(1354-1356)cgC>cgT	p.R452R	TESK2_ENST00000341771.6_Silent_p.R423R|TESK2_ENST00000538496.1_Silent_p.R369R|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Silent_p.R423R	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	452					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					AACGCCACCGGCGAATAGGTG	0.607000													68	23					0	0	0.000781405	0	0
ADH1C	126	broad.mit.edu	37	4	100273819	100273819	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:100273819C>T	ENST00000510055.1	-	0	68				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GCTTACTTTTCCTGCTGTGCT	0.313000													27	42					0	0	0.0024448	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413991	105413991	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:105413991C>T	ENST00000333244.5	-	7	7916	c.7797G>A	c.(7795-7797)aaG>aaA	p.K2599K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2599						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCACTTCCGCCTTGGGGCCTT	0.622000													107	73					0	0	0.000781405	0	0
SAMD4A	23034	broad.mit.edu	37	14	55251268	55251268	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:55251268C>T	ENST00000251091.5	+	10	2099	c.1794C>T	c.(1792-1794)ccC>ccT	p.P598P	SAMD4A_ENST00000555192.1_Silent_p.P313P|SAMD4A_ENST00000554335.1_Silent_p.P686P|SAMD4A_ENST00000392067.3_Silent_p.P686P|SAMD4A_ENST00000357634.3_Silent_p.P685P	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	686					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TCCAGCTTCCCGTGACCGAAC	0.542000													35	69					0	0	0.00170553	0	0
KRT2	3849	broad.mit.edu	37	12	53038892	53038892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:53038892C>T	ENST00000309680.3	-	9	1852	c.1831G>A	c.(1831-1833)Gga>Aga	p.G611R		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	611	Tail.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GAGCCATATCCTCCTCCAGAG	0.542000													27	79					0	0	0.000720815	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787254	121787254	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:121787254G>A	ENST00000261367.7	+	12	4281	c.2853G>A	c.(2851-2853)aaG>aaA	p.K951K	SNCAIP_ENST00000379536.2_Silent_p.K844K|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000414317.2_Silent_p.K506K|SNCAIP_ENST00000542191.1_Silent_p.K462K|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Silent_p.K904K|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379538.3_Silent_p.K538K|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379533.2_Silent_p.K951K			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	904					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAGATGCCAAGGGAAACCCTG	0.423000													44	45					0	0	0.000781405	0	0
OR4B1	119765	broad.mit.edu	37	11	48239290	48239290	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:48239290G>A	ENST00000309562.2	+	1	947	c.929G>A	c.(928-930)tGa>tAa	p.*310*		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.*310*(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGGAGGGAGTGAAAAAAGAGC	0.398000													18	11					0	0	0.000958276	0	0
PGR	5241	broad.mit.edu	37	11	100999145	100999145	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:100999145C>T	ENST00000325455.5	-	1	2110	c.657G>A	c.(655-657)gtG>gtA	p.V219V	PGR_ENST00000263463.5_Silent_p.V219V|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	219	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CCTCAACCTCCACCGCAGCGG	0.711000													13	2					0	0	0.000308642	0	0
ADSS	159	broad.mit.edu	37	1	244587324	244587324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:244587324G>A	ENST00000366535.3	-	6	828	c.512C>T	c.(511-513)tCg>tTg	p.S171L	ADSS_ENST00000462358.1_5'UTR	NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	171					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	AGCTTTGGACGAATAAACTGG	0.423000													24	14					0	0	0.000720815	0	0
GLIS1	148979	broad.mit.edu	37	1	54060392	54060392	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:54060392G>A	ENST00000312233.2	-	3	750	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	62					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CACCGCTTCAGGCTGCCCTCG	0.697000													18	14					0	0	0.00152264	0	0
F2RL1	2150	broad.mit.edu	37	5	76128963	76128963	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:76128963C>T	ENST00000296677.4	+	2	737	c.531C>T	c.(529-531)atC>atT	p.I177I		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	177					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		ATTGGGTCATCGTGAACCCCA	0.483000													255	352					0	0	0.000781405	0	0
DGCR2	9993	broad.mit.edu	37	22	19052576	19052576	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:19052576G>A	ENST00000263196.7	-	4	580	c.333C>T	c.(331-333)ttC>ttT	p.F111F	DGCR2_ENST00000473832.1_Intron|DGCR2_ENST00000545799.1_Intron|DGCR2_ENST00000537045.1_Silent_p.F70F	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	111					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					ACTTCCCTAGGAAACATAAAG	0.547000													6	24					0	0	0.00116845	0	0
CUX1	1523	broad.mit.edu	37	7	101844695	101844695	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:101844695C>T	ENST00000360264.3	+	18	2171	c.2151C>T	c.(2149-2151)atC>atT	p.I717I	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Silent_p.I650I|CUX1_ENST00000556210.1_Silent_p.I548I|CUX1_ENST00000546411.2_Silent_p.I604I|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Silent_p.I684I|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292535.7_Silent_p.I706I	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	706					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ATGACGCCATCCGCTCCATCC	0.657000													39	125					0	0	0.00148497	0	0
MTHFD1	4522	broad.mit.edu	37	14	64898303	64898303	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:64898303C>T	ENST00000555709.1	+	14	1752	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000555252.1_Silent_p.L435L|MTHFD1_ENST00000216605.7_Silent_p.L511L|MTHFD1_ENST00000545908.1_Silent_p.L511L	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	455	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CTAATAACCTCGTTGCTGCGG	0.468000													32	22					0	0	0.000814825	0	0
GPX6	257202	broad.mit.edu	37	6	28474150	28474150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:28474150G>A	ENST00000361902.1	-	3	347	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	GPX6_ENST00000474923.1_Missense_Mutation_p.P100S|GPX6_ENST00000483058.1_5'UTR	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	100					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TGGTTGCAGGGAAAGGCCAAC	0.498000													39	50					0	0	0.00148497	0	0
SCAMP3	10067	broad.mit.edu	37	1	155230384	155230384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:155230384G>A	ENST00000355379.3	-	2	411	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S	SCAMP3_ENST00000302631.3_Missense_Mutation_p.P71S	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	71					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTTCTCGAGGGCTGCAAGGAG	0.582000													35	82					0	0	0.00148497	0	0
LIN9	286826	broad.mit.edu	37	1	226420283	226420283	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:226420283G>A	ENST00000328205.5	-	15	2141	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	LIN9_ENST00000366801.1_Silent_p.I481I	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	516					cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GTGCAACATGGATTTCTACAT	0.323000													15	52					0	0	0.00074312	0	0
DCN	1634	broad.mit.edu	37	12	91539904	91539904	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:91539904C>T	ENST00000052754.5	-	8	1512	c.1011G>A	c.(1009-1011)tgG>tgA	p.W337*	DCN_ENST00000303320.3_Nonsense_Mutation_p.W150*|DCN_ENST00000547568.2_Nonsense_Mutation_p.W190*|DCN_ENST00000552962.1_Nonsense_Mutation_p.W337*|DCN_ENST00000393155.1_Nonsense_Mutation_p.W337*|DCN_ENST00000441303.2_Nonsense_Mutation_p.W150*|DCN_ENST00000228329.5_Nonsense_Mutation_p.W228*|DCN_ENST00000420120.2_Nonsense_Mutation_p.W228*|DCN_ENST00000425043.1_Nonsense_Mutation_p.W190*	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	337					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GCTGTATCTCCCAGTACTGGA	0.463000													28	59					0	0	0.0024448	0	0
IQCE	23288	broad.mit.edu	37	7	2638195	2638195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:2638195C>T	ENST00000402050.2	+	17	1721	c.1537C>T	c.(1537-1539)Ccc>Tcc	p.P513S	IQCE_ENST00000438376.2_Missense_Mutation_p.P497S|IQCE_ENST00000404984.1_Missense_Mutation_p.P462S|IQCE_ENST00000325979.7_Missense_Mutation_p.P448S	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	513										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GCCCCGCTCCCCCTGCTCTGA	0.706000													35	35					0	0	0.000491102	0	0
SLC4A4	8671	broad.mit.edu	37	4	72306347	72306347	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:72306347C>T	ENST00000340595.3	+	5	886	c.690C>T	c.(688-690)ttC>ttT	p.F230F	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Silent_p.F274F|SLC4A4_ENST00000512686.1_Silent_p.F230F|SLC4A4_ENST00000351898.6_Silent_p.F274F|SLC4A4_ENST00000425175.1_Silent_p.F274F	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	274						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AGAATAAGTTCATGAAAAAAT	0.418000													26	46					0	0	0.00106085	0	0
LRFN2	57497	broad.mit.edu	37	6	40360041	40360041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:40360041C>T	ENST00000338305.6	-	3	2553	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	671						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCAGCTCCTCCTTTCTCTGA	0.726000													9	19					0	0	0.000442599	0	0
MALL	7851	broad.mit.edu	37	2	110849340	110849340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:110849340C>T	ENST00000272462.2	-	2	886	c.113G>A	c.(112-114)gGg>gAg	p.G38E	MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	38	MARVEL.				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		GACCAAGAACCCAAATATCTG	0.463000													17	67					0	0	0.000720815	0	0
EXOC4	60412	broad.mit.edu	37	7	133002041	133002041	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:133002041C>T	ENST00000253861.4	+	5	689	c.660C>T	c.(658-660)tcC>tcT	p.S220S	EXOC4_ENST00000393161.2_Silent_p.S220S|EXOC4_ENST00000539845.1_Silent_p.S119S	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	220			S -> F (in a colorectal cancer sample; somatic mutation).		vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CGTTCAGCTCCCTCGTGAAAG	0.438000													31	162					0	0	0.00178596	0	0
MUC17	140453	broad.mit.edu	37	7	100676940	100676940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:100676940C>T	ENST00000306151.4	+	3	2307	c.2243C>T	c.(2242-2244)cCa>cTa	p.P748L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	748	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAAGCACTCCATTAACAAGT	0.488000													85	337					0	0	0.000781405	0	0
MKX	283078	broad.mit.edu	37	10	28023391	28023391	+	Missense_Mutation	SNP	G	G	A	rs138096382		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:28023391G>A	ENST00000375790.5	-	5	1264	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	MKX_ENST00000419761.1_Missense_Mutation_p.R278C			Q8IYA7	MKX_HUMAN	mohawk homeobox	278					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TTACCTGTGCGATAGACAAAG	0.393000													41	22					0	0	0.000509022	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399270	22399270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:22399270G>A	ENST00000263160.3	+	12	2170	c.1733G>A	c.(1732-1734)cGa>cAa	p.R578Q		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	578					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						TATAAGGACCGAGTTGATTAT	0.353000													10	16					0	0	0.000673444	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005144	1005144	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:1005144C>T	ENST00000234389.3	+	3	1663	c.1644C>T	c.(1642-1644)ttC>ttT	p.F548F	GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	548					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCAGCCCCTTCTTCTCCACCA	0.672000													17	38					0	0	0.000958276	0	0
WRAP53	55135	broad.mit.edu	37	17	7605064	7605064	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:7605064C>T	ENST00000316024.5	+	6	3260	c.912C>T	c.(910-912)tcC>tcT	p.S304S	WRAP53_ENST00000431639.2_Silent_p.S304S|WRAP53_ENST00000534050.1_Silent_p.S271S|WRAP53_ENST00000457584.2_Silent_p.S304S|WRAP53_ENST00000396463.2_Silent_p.S304S			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	304					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GTGTTTTTTCCACGGCCCGGC	0.627000													53	6					0	0	0.000781405	0	0
FCRL5	83416	broad.mit.edu	37	1	157514299	157514299	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:157514299G>A	ENST00000361835.3	-	5	754	c.597C>T	c.(595-597)ttC>ttT	p.F199F	FCRL5_ENST00000356953.4_Silent_p.F199F|FCRL5_ENST00000368190.3_Silent_p.F199F|FCRL5_ENST00000368189.3_Silent_p.F199F|FCRL5_ENST00000368191.3_Silent_p.F114F	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	199	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGATGGGCTGGAAGGAGCTGG	0.552000													67	37					0	0	0.000781405	0	0
HSPA9	3313	broad.mit.edu	37	5	137893590	137893590	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:137893590G>C	ENST00000297185.3	-	13	1726	c.1601C>G	c.(1600-1602)gCt>gGt	p.A534G	HSPA9_ENST00000501917.2_Intron	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	534					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTATCTTTAGCAGAAACATG	0.428000													20	74					0	0	0.00121646	0	0
SLC22A1	6580	broad.mit.edu	37	6	160575853	160575853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:160575853C>T	ENST00000366963.4	+	9	1556	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	SLC22A1_ENST00000457470.2_Intron|SLC22A1_ENST00000324965.4_Intron	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	470						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		ATGGTGTGTTCCTCCCTGTGT	0.428000													28	7					0	0	0.00209593	0	0
TCHH	7062	broad.mit.edu	37	1	152080064	152080064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:152080064C>T	ENST00000368804.1	-	2	5628	c.5629G>A	c.(5629-5631)Gaa>Aaa	p.E1877K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1877	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATTTCCTTTCCCGTTCCTGG	0.567000													32	71					0	0	0.000692331	0	0
APOL5	80831	broad.mit.edu	37	22	36116701	36116701	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:36116701C>T	ENST00000249044.2	+	2	142	c.142_splice	c.e2+1	p.P48_splice		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	48					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						acctgagttccgtgagggcag	0.498000													22	25					0	0	0.00188189	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6084289	6084289	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:6084289G>A	ENST00000199389.6	-	7	780	c.634C>T	c.(634-636)Cta>Tta	p.L212L	EIF2AK1_ENST00000536084.1_Silent_p.L88L|EIF2AK1_ENST00000495565.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	212	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		ACTTCCCGTAGGACCTAGAAA	0.443000													30	37					0	0	0.00209593	0	0
MRPS18A	55168	broad.mit.edu	37	6	43639617	43639617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:43639617G>A	ENST00000372133.3	-	6	484	c.473C>T	c.(472-474)tCc>tTc	p.S158F	MRPS18A_ENST00000372116.1_3'UTR|RSPH9_ENST00000372163.4_3'UTR|RSPH9_ENST00000372165.4_3'UTR	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	mitochondrial ribosomal protein S18A	158					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			GGGCTTGACGGAGCCAGGAGC	0.617000													11	14					0	0	0.000978159	0	0
ZAN	7455	broad.mit.edu	37	7	100391482	100391482	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:100391482G>A	ENST00000542585.1	+	0	8038				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGAGCTGTATGACACCCTGCC	0.632000													22	97					0	0	0.000586117	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370262	35370262	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:35370262C>T	ENST00000373347.1	-	3	991	c.723G>A	c.(721-723)agG>agA	p.R241R	DLGAP3_ENST00000235180.4_Silent_p.R241R			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	241					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TGCTCTTGCTCCTCTTGCCGT	0.647000													79	34					0	0	0.000781405	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421780	115421780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:115421780C>T	ENST00000337530.6	+	4	1878	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	KIAA1958_ENST00000536272.1_Missense_Mutation_p.R556C	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	528										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CGCGCGTTCTCGCAACATCGT	0.572000													12	2					0	0	0.000219431	0	0
PRX	57716	broad.mit.edu	37	19	40901361	40901361	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:40901361G>A	ENST00000324001.7	-	7	3168	c.2898C>T	c.(2896-2898)ctC>ctT	p.L966L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	966					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGCCTTGGGGAGTGAGATGG	0.622000													25	43					0	0	0.000586117	0	0
MLC1	23209	broad.mit.edu	37	22	50506907	50506907	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:50506907G>A	ENST00000311597.5	-	10	1455	c.849C>T	c.(847-849)atC>atT	p.I283I	MLC1_ENST00000450140.2_Silent_p.I231I|MLC1_ENST00000538737.1_Silent_p.I249I|MLC1_ENST00000535444.1_Silent_p.I204I|MLC1_ENST00000395876.2_Silent_p.I283I|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000431262.2_Silent_p.I253I	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	283						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CGATTCTCATGATGCTGAATG	0.502000													109	100					0	0	0.000781405	0	0
TANGO6	79613	broad.mit.edu	37	16	68934380	68934380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:68934380C>T	ENST00000261778.1	+	8	1433	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		TTGATGGATTCCCTGCTTCCA	0.428000													82	41					0	0	0.000781405	0	0
IGLL5	100423062	broad.mit.edu	37	22	23235906	23235906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:23235906G>A	ENST00000532223.1	+	2	510	c.236G>A	c.(235-237)aGa>aAa	p.R79K	IGLJ1_ENST00000390320.2_RNA|IGLL5_ENST00000531372.1_Intron|IGLL5_ENST00000526893.1_Missense_Mutation_p.R78K			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	78						extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						AGCCCCCAGAGAGCAGACCCC	0.652000													9	7					0	0	0.000978159	0	0
OR5T3	390154	broad.mit.edu	37	11	56020467	56020467	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:56020467G>A	ENST00000303059.3	+	1	792	c.792G>A	c.(790-792)agG>agA	p.R264R		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					CTAAGGGAAGGCAAAAGGCCT	0.413000													75	93					0	0	0.000781405	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24257714	24257714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:24257714G>A	ENST00000538205.1	+	12	1353	c.806G>A	c.(805-807)gGa>gAa	p.G269E	ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.G348E|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.G269E	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	348	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GCTCTTGTAGGAGTGATGTCA	0.373000													15	9					0	0	0.000308642	0	0
PLCH1	23007	broad.mit.edu	37	3	155203476	155203476	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:155203476C>T	ENST00000460012.1	-	22	2910	c.2553G>A	c.(2551-2553)aaG>aaA	p.K851K	PLCH1_ENST00000494598.1_Silent_p.K869K|PLCH1_ENST00000414191.1_Silent_p.K851K|PLCH1_ENST00000447496.2_Silent_p.K889K|PLCH1_ENST00000340059.7_Silent_p.K889K|PLCH1_ENST00000334686.6_Silent_p.K851K			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	889					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGAACAGTCCCTTCAGACCCT	0.433000													19	17					0	0	0.00188189	0	0
MGAM	8972	broad.mit.edu	37	7	141754673	141754673	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:141754673G>A	ENST00000475668.2	+	27	3333	c.3279G>A	c.(3277-3279)ggG>ggA	p.G1093G	MGAM_ENST00000549489.2_Silent_p.G1093G			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1093	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)	ATCCATTTGGGATTGAAATTC	0.493000													21	107					0	0	0.00152264	0	0
CENPB	1059	broad.mit.edu	37	20	3765728	3765728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:3765728G>A	ENST00000379751.4	-	1	1609	c.1403C>T	c.(1402-1404)tCg>tTg	p.S468L		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	468					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CAAGCCCTCCGAGGAGCTCTC	0.612000													15	19					0	0	0.000958276	0	0
OR10H1	26539	broad.mit.edu	37	19	15918208	15918208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:15918208G>A	ENST00000334920.2	-	1	728	c.640C>T	c.(640-642)Ctc>Ttc	p.L214F		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L214F(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGGAGGATGAGGAGAAAACAG	0.577000													17	40					0	0	0.000720815	0	0
CHRM2	1129	broad.mit.edu	37	7	136700447	136700447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:136700447G>A	ENST00000445907.2	+	3	1363	c.835G>A	c.(835-837)Gag>Aag	p.E279K	CHRM2_ENST00000397608.3_Missense_Mutation_p.E279K|CHRM2_ENST00000401861.1_Missense_Mutation_p.E279K|CHRM2_ENST00000402486.3_Missense_Mutation_p.E279K|CHRM2_ENST00000320658.5_Missense_Mutation_p.E279K|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.E279K|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000586239.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	279					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|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)	TCAGGGAGAGGAGAAGGAGAG	0.488000													18	57					0	0	0.000958276	0	0
TLE2	7089	broad.mit.edu	37	19	3009539	3009539	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:3009539C>T	ENST00000262953.6	-	13	1436		c.e13+1		TLE2_ENST00000426948.2_Splice_Site|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Splice_Site|TLE2_ENST00000447365.2_Splice_Site|TLE2_ENST00000591529.1_Splice_Site|TLE2_ENST00000590536.1_Splice_Site|TLE2_ENST00000443826.3_Splice_Site	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)						negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGGACTCACCACGGGGGAG	0.652000													5	17					0	0	0.00198382	0	0
RABL3	285282	broad.mit.edu	37	3	120424922	120424922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:120424922G>A	ENST00000273375.3	-	4	337	c.308C>T	c.(307-309)tCc>tTc	p.S103F	RABL3_ENST00000483733.1_Missense_Mutation_p.S103F|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	103	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		CAAGTTTTGGGAGGACTTCTT	0.388000													61	61					0	0	0.000781405	0	0
OR10A7	121364	broad.mit.edu	37	12	55615186	55615186	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:55615186C>T	ENST00000326258.1	+	1	378	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TTGTGGCCATCTGTAACCCTC	0.463000													25	55					0	0	0.000375601	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3643366	3643366	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:3643366G>A	ENST00000335312.3	-	13	1612	c.1524C>T	c.(1522-1524)ctC>ctT	p.L508L	PIP5K1C_ENST00000589578.1_Silent_p.L508L|PIP5K1C_ENST00000539785.1_Silent_p.L508L|PIP5K1C_ENST00000537021.1_Silent_p.L508L	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	508					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TGCAGGGCAGGAGGTCGGGCC	0.637000													41	83					0	0	0.000589545	0	0
TECTA	7007	broad.mit.edu	37	11	121039497	121039497	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:121039497G>A	ENST00000392793.1	+	20	6133	c.5862G>A	c.(5860-5862)acG>acA	p.T1954T	TECTA_ENST00000264037.2_Silent_p.T1954T			O75443	TECTA_HUMAN	tectorin alpha	1954	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.T1954T(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TAGTGTTGACGACTCGAGATG	0.483000													66	14					0	0	0.000781405	0	0
PIANP	196500	broad.mit.edu	37	12	6806591	6806591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:6806591C>T	ENST00000534837.1	-	3	614	c.385G>A	c.(385-387)Gac>Aac	p.D129N	PIANP_ENST00000320591.5_Missense_Mutation_p.D129N|PIANP_ENST00000540656.1_Missense_Mutation_p.D129N	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein																		AAACCATAGTCCAGAAATCCG	0.612000													14	33					0	0	0.000566183	0	0
COLGALT2	23127	broad.mit.edu	37	1	183914630	183914630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:183914630G>A	ENST00000361927.4	-	9	1576	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	COLGALT2_ENST00000367520.3_Missense_Mutation_p.S139F|COLGALT2_ENST00000367521.1_Missense_Mutation_p.S10F|COLGALT2_ENST00000546159.1_Missense_Mutation_p.S402F	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		AGGCCTGGAGGAATAGGGATC	0.448000													50	107					0	0	0.000781405	0	0
HEPHL1	341208	broad.mit.edu	37	11	93836140	93836140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:93836140C>T	ENST00000315765.9	+	15	2644	c.2636C>T	c.(2635-2637)cCc>cTc	p.P879L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	879	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CCTTCTGATCCCAATTGTATT	0.333000													24	4					0	0	0.000878237	0	0
OR4D2	124538	broad.mit.edu	37	17	56247838	56247838	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:56247838C>T	ENST00000545221.1	+	1	822	c.822C>T	c.(820-822)ggC>ggT	p.G274G		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TGTCCATCGGCCACACAGTCA	0.532000													73	50					0	0	0.000781405	0	0
SMO	6608	broad.mit.edu	37	7	128845484	128845484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:128845484C>T	ENST00000249373.3	+	4	1061	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	261					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GAACTCGAATCGCTACCCTGC	0.537000			Mis		skin basal cell								57	118					0	0	0.000781405	0	0
C10orf90	118611	broad.mit.edu	37	10	128114453	128114453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:128114453G>A	ENST00000284694.7	-	9	2200	c.2080C>T	c.(2080-2082)Ctt>Ttt	p.L694F	C10orf90_ENST00000356858.3_3'UTR|C10orf90_ENST00000480379.1_Missense_Mutation_p.L98F|C10orf90_ENST00000544758.1_Missense_Mutation_p.L791F|C10orf90_ENST00000454341.1_Missense_Mutation_p.L597F	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	694										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TTCCTTTGAAGGAGCTGGTCC	0.498000													17	2					0	0	0.000958276	0	0
OR14J1	442191	broad.mit.edu	37	6	29275415	29275415	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:29275415G>A	ENST00000377160.2	+	1	1013	c.949G>A	c.(949-951)Gcc>Acc	p.A317T		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						gtgcttaaaagccatgtttaa	0.388000													25	38					0	0	0.000878237	0	0
MRPL21	219927	broad.mit.edu	37	11	68658812	68658812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:68658812G>A	ENST00000362034.2	-	7	614	c.605C>T	c.(604-606)cCg>cTg	p.P202L	MRPL21_ENST00000450904.2_Missense_Mutation_p.P117L	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	202					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAACAAACACGGAGCAATCTC	0.463000													65	149					0	0	0.000781405	0	0
CASP8	841	broad.mit.edu	37	2	202137459	202137459	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:202137459C>A	ENST00000358485.4	+	4	883	c.687C>A	c.(685-687)agC>agA	p.S229R	CASP8_ENST00000392266.3_Missense_Mutation_p.S170R|CASP8_ENST00000323492.7_Missense_Mutation_p.S170R|CASP8_ENST00000264275.5_Missense_Mutation_p.S202R|CASP8_ENST00000264274.9_Missense_Mutation_p.S170R|CASP8_ENST00000392259.2_Missense_Mutation_p.S170R|CASP8_ENST00000392258.3_Missense_Mutation_p.S170R|CASP8_ENST00000432109.2_Missense_Mutation_p.S170R	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	170					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCAACAAGAGCCTGCTGAAGA	0.428000										HNSCC(4;0.00038)			32	164					1.836e-18	8.84521e-18	0.000692331	1	0
FMO1	2326	broad.mit.edu	37	1	171251243	171251243	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:171251243G>A	ENST00000354841.4	+	6	1085	c.954G>A	c.(952-954)aaG>aaA	p.K318K	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Silent_p.K318K|FMO1_ENST00000402921.2_Silent_p.K255K			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	318					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATACTTCAAAGGAAGAGCCTA	0.433000													25	55					0	0	0.00047179	0	0
ARAP3	64411	broad.mit.edu	37	5	141033693	141033693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:141033693G>A	ENST00000239440.4	-	33	4524	c.4459C>T	c.(4459-4461)Cag>Tag	p.Q1487*	ARAP3_ENST00000513878.1_Nonsense_Mutation_p.Q1136*|ARAP3_ENST00000508305.1_Nonsense_Mutation_p.Q1318*|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1487	Pro-rich.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTGAGCTCCTGGAGCAGCTGT	0.657000													16	47					0	0	0.000566183	0	0
C2orf54	79919	broad.mit.edu	37	2	241826526	241826526	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:241826526G>A	ENST00000307486.8	-	5	956	c.858C>T	c.(856-858)atC>atT	p.I286I	C2orf54_ENST00000402775.2_Silent_p.I267I|C2orf54_ENST00000388934.4_Silent_p.I435I			Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	435										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		TCTTCTGGAAGATGCTCTGCA	0.592000													33	22					0	0	0.00058488	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13923865	13923865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:13923865C>T	ENST00000254323.2	+	6	1256	c.1067C>T	c.(1066-1068)gCa>gTa	p.A356V	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.A73V	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	356							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GAGGAAAGGGCAGGCTGGCTC	0.637000													23	21					0	0	0.00047179	0	0
SLC6A12	6539	broad.mit.edu	37	12	305416	305416	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:305416C>T	ENST00000428720.1	-	12	1943	c.1200G>A	c.(1198-1200)gtG>gtA	p.V400V	SLC6A12_ENST00000536824.1_Silent_p.V400V|SLC6A12_ENST00000359674.4_Silent_p.V400V|SLC6A12_ENST00000424061.2_Silent_p.V400V|SLC6A12_ENST00000397296.2_Silent_p.V400V	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	400					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			CCAGGCACTCCACACAGACAA	0.642000													16	6					0	0	0.000566183	0	0
LPCAT4	254531	broad.mit.edu	37	15	34651861	34651861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:34651861G>A	ENST00000314891.6	-	13	1505	c.1328C>T	c.(1327-1329)tCa>tTa	p.S443L		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	443					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						AGGGTGGGGTGAACCCAGCAG	0.602000													21	29					0	0	0.00121646	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202001	140202001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140202001C>T	ENST00000529859.1	+	1	641	c.641C>T	c.(640-642)aCt>aTt	p.T214I	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.T214I|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.T214I	NM_018908.2	NP_061731.1												p.T214S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGATTGCAACTGATGGAGGA	0.348000													57	35					0	0	0.000781405	0	0
RTF1	23168	broad.mit.edu	37	15	41750008	41750008	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:41750008T>G	ENST00000389629.4	+	4	608	c.596T>G	c.(595-597)aTg>aGg	p.M199R		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	199	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CTGGAACAGATGACAGAGAAA	0.502000													61	89					0	0	0.000781405	0	0
DCC	1630	broad.mit.edu	37	18	51013171	51013171	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:51013171C>T	ENST00000442544.2	+	26	4357	c.3741C>T	c.(3739-3741)gtC>gtT	p.V1247V	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Silent_p.V882V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1247					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)		TTGCAGCTGTCGTGAGCGCCA	0.483000													31	57					0	0	0.00058488	0	0
C11orf24	53838	broad.mit.edu	37	11	68029501	68029501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:68029501G>A	ENST00000304271.6	-	4	1364	c.962C>T	c.(961-963)tCc>tTc	p.S321F	C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	321	Pro-rich.					integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						TGTCGTGGGGGACATGGCCTC	0.637000													37	20					0	0	0.00128727	0	0
PTCH2	8643	broad.mit.edu	37	1	45288151	45288151	+	Nonsense_Mutation	SNP	C	C	T	rs56024410		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:45288151C>T	ENST00000372192.3	-	22	3678	c.3548G>A	c.(3547-3549)tGg>tAg	p.W1183*	PTCH2_ENST00000447098.2_Intron	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1183					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AGCAGGGGACCAAGGGGGCTC	0.632000									Basal Cell Nevus syndrome				12	52					0	0	0.000978159	0	0
BTN2A1	11120	broad.mit.edu	37	6	26465416	26465416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:26465416C>T	ENST00000429381.1	+	5	928	c.716C>T	c.(715-717)tCc>tTc	p.S239F	BTN2A1_ENST00000312541.5_Missense_Mutation_p.S239F|BTN2A1_ENST00000541522.1_Missense_Mutation_p.S178F|BTN2A1_ENST00000469185.1_Missense_Mutation_p.S239F			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	239					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TTTTCAGAATCCTTTATGCCC	0.478000													49	68					0	0	0.000781405	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653000	46653000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:46653000C>T	ENST00000253255.5	-	1	6219	c.6220G>A	c.(6220-6222)Gat>Aat	p.D2074N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2074					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGGCGCACATCGTAGAAGAAT	0.463000													20	29					0	0	0.00188189	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307251	39307251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:39307251C>T	ENST00000541347.1	-	2	989	c.750G>A	c.(748-750)atG>atA	p.M250I	CX3CR1_ENST00000542107.1_Missense_Mutation_p.M250I|CX3CR1_ENST00000358309.3_Missense_Mutation_p.M282I|CX3CR1_ENST00000399220.2_Missense_Mutation_p.M250I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	250					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CCAGGAAAATCATAACGTTGT	0.468000													59	36					0	0	0.000781405	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36468529	36468529	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:36468529C>T	ENST00000405275.2	+	13	1401	c.1158C>T	c.(1156-1158)tcC>tcT	p.S386S	CTNNBL1_ENST00000373469.1_Silent_p.S161S|CTNNBL1_ENST00000361383.6_Silent_p.S413S|CTNNBL1_ENST00000373473.1_Silent_p.S226S|CTNNBL1_ENST00000473857.1_3'UTR			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	413					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCCTGGCTTCCCTCCTGCGGA	0.502000													56	41					0	0	0.000781405	0	0
MYOM3	127294	broad.mit.edu	37	1	24388451	24388451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:24388451C>T	ENST00000330966.7	-	33	4090	c.3928G>A	c.(3928-3930)Gat>Aat	p.D1310N	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.D200N|MYOM3_ENST00000374434.3_Missense_Mutation_p.D1307N			Q5VTT5	MYOM3_HUMAN	myomesin 3	1307										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CCTGAGAGATCTGTTGAGAGC	0.527000													33	115					0	0	0.000692331	0	0
TBC1D17	79735	broad.mit.edu	37	19	50385371	50385371	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:50385371C>T	ENST00000221543.5	+	6	900	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	TBC1D17_ENST00000535102.2_Silent_p.L168L	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	201						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CTTCCACCACCTGCAGCTCTT	0.657000													48	276					0	0	0.000781405	0	0
VTCN1	79679	broad.mit.edu	37	1	117699533	117699533	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:117699533G>A	ENST00000369458.3	-	3	186	c.108C>T	c.(106-108)tcC>tcT	p.S36S	VTCN1_ENST00000539893.1_5'UTR|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000359008.4_Silent_p.S39S	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	36	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TGACTGTGATGGAGTGTCTCC	0.473000													11	38					0	0	0.000673444	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541351	40541351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:40541351G>A	ENST00000434248.1	-	5	1480	c.1415C>T	c.(1414-1416)cCc>cTc	p.P472L	ZNF780B_ENST00000221355.6_Missense_Mutation_p.P324L	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACATTCAAAGGGTTTCCCACC	0.388000													27	27					0	0	0.00127121	0	0
SHB	6461	broad.mit.edu	37	9	37955894	37955894	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:37955894G>A	ENST00000377707.3	-	4	1777	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	404	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GCTTCTCCAGGGGGACGGCAG	0.527000													24	3					0	0	0.001512	0	0
THSD7B	80731	broad.mit.edu	37	2	137814638	137814638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:137814638G>A	ENST00000409968.1	+	3	966	c.788G>A	c.(787-789)gGa>gAa	p.G263E	THSD7B_ENST00000543459.1_Missense_Mutation_p.G122E|THSD7B_ENST00000272643.3_Missense_Mutation_p.G263E|THSD7B_ENST00000413152.2_Missense_Mutation_p.G232E					thrombospondin, type I, domain containing 7B											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)		AATCCAAGCGGAAGAACTGTT	0.393000													65	101					0	0	0.000781405	0	0
ZNF502	91392	broad.mit.edu	37	3	44762592	44762592	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:44762592C>T	ENST00000296091.4	+	4	539	c.283C>T	c.(283-285)Cct>Tct	p.P95S	ZNF502_ENST00000449836.1_Missense_Mutation_p.P95S|ZNF502_ENST00000436624.2_Missense_Mutation_p.P95S	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		AGAAGCACCCCCTGAAATTAT	0.423000													17	40					0	0	0.000422831	0	0
TP53BP2	7159	broad.mit.edu	37	1	223991885	223991885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:223991885C>T	ENST00000391878.2	-	7	1021	c.253G>A	c.(253-255)Ggg>Agg	p.G85R	TP53BP2_ENST00000343537.7_Missense_Mutation_p.G214R	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	208					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CCAAGTTTCCCATTGCTTAGT	0.383000													61	189					0	0	0.000781405	0	0
DBH	1621	broad.mit.edu	37	9	136505099	136505099	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:136505099G>A	ENST00000393056.2	+	2	483	c.471G>A	c.(469-471)aaG>aaA	p.K157K		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	157	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GCGACCCCAAGGATTACCTCA	0.587000													17	2					0	0	0.00152264	0	0
TTN	7273	broad.mit.edu	37	2	179590525	179590525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:179590525C>T	ENST00000589042.1	-	70	20748	c.20524G>A	c.(20524-20526)Gat>Aat	p.D6842N	TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D5598N|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D6525N|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6525	Ig-like 50.						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)			ACACAAGTATCACTTCCCACT	0.373000													42	79					0	0	0.000680045	0	0
OR10J5	127385	broad.mit.edu	37	1	159505776	159505776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:159505776C>T	ENST00000334857.2	-	1	66	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TCTGACACTTCTGTGAAGTTC	0.363000													10	47					0	0	0.000673444	0	0
RBM19	9904	broad.mit.edu	37	12	114395671	114395671	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:114395671G>A	ENST00000545145.2	-	6	834	c.756C>T	c.(754-756)gtC>gtT	p.V252V	RBM19_ENST00000261741.5_Silent_p.V252V|RBM19_ENST00000392561.3_Silent_p.V252V	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	252					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TTTCCTGCAGGACTGGGGTGG	0.597000													53	49					0	0	0.000781405	0	0
TACO1	51204	broad.mit.edu	37	17	61685212	61685212	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:61685212C>T	ENST00000258975.6	+	5	956	c.744C>T	c.(742-744)tcC>tcT	p.S248S		NM_016360.3	NP_057444.2	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially encoded cytochrome c oxidase I	248					regulation of translation	mitochondrion				breast(2)|endometrium(1)|lung(1)	4						AGCTGGACTCCCTGGGCCTGT	0.532000													78	5					0	0	0.000781405	0	0
COL6A6	131873	broad.mit.edu	37	3	130300434	130300434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:130300434G>A	ENST00000358511.6	+	8	3608	c.3577G>A	c.(3577-3579)Gat>Aat	p.D1193N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D1193N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1193	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGTGGGATTTGATGTCTCAAC	0.438000													56	85					0	0	0.000781405	0	0
RORA	6095	broad.mit.edu	37	15	60806938	60806938	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:60806938G>A	ENST00000335670.6	-	4	401	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	RORA_ENST00000309157.4_Nonsense_Mutation_p.Q126*|RORA_ENST00000261523.5_Nonsense_Mutation_p.Q134*|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000560004.1_5'UTR|RP11-219B17.1_ENST00000559902.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000449337.2_Nonsense_Mutation_p.Q46*|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	134	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TTGCTTTGCTGACTTCTCCTG	0.428000													40	28					0	0	0.00222228	0	0
FKBP15	23307	broad.mit.edu	37	9	115940928	115940928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:115940928C>T	ENST00000238256.3	-	20	2185	c.2068G>A	c.(2068-2070)Gtg>Atg	p.V690M		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	690					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTTGCCTGCACTTTGGTGAGC	0.463000													10	1					0	0	0.000978159	0	0
AOX1	316	broad.mit.edu	37	2	201473810	201473810	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:201473810C>T	ENST00000374700.2	+	11	1252	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	337	FAD-binding PCMH-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ACCATGCTCTCCTGAAGCATT	0.512000													33	28					0	0	0.000491102	0	0
ACSM5	54988	broad.mit.edu	37	16	20439149	20439149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:20439149C>T	ENST00000331849.4	+	7	1108	c.961C>T	c.(961-963)Cca>Tca	p.P321S		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	321					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTGCTGTGTCCCAACCATCTT	0.468000													90	65					0	0	0.000781405	0	0
GLI1	2735	broad.mit.edu	37	12	57865042	57865042	+	Missense_Mutation	SNP	G	G	A	rs138706434	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:57865042G>A	ENST00000228682.2	+	12	2610	c.2519G>A	c.(2518-2520)gGg>gAg	p.G840E	GLI1_ENST00000546141.1_Missense_Mutation_p.G799E|GLI1_ENST00000543426.1_Missense_Mutation_p.G712E	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	840					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCCAGTGAGGGGCCCCCACAT	0.587000													30	27					0	0	0.000692331	0	0
KRT10	3858	broad.mit.edu	37	17	38975396	38975396	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:38975396C>A	ENST00000269576.5	-	7	1400	c.1391G>T	c.(1390-1392)cGc>cTc	p.R464L	TMEM99_ENST00000301665.3_5'UTR	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	464	Gly-rich.|Tail.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				tccgccgccgcgtccgccgcc	0.657000													7	6					2.0095e-06	9.59638e-06	0.00198382	1	0
OR13C5	138799	broad.mit.edu	37	9	107361417	107361417	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:107361417G>A	ENST00000374779.2	-	1	371	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GCCAGAAAGGGAAATGGTCTT	0.517000													14	2					0	0	0.000422831	0	0
PNCK	139728	broad.mit.edu	37	X	152936627	152936627	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:152936627G>A	ENST00000393831.2	-	8	1136	c.702C>T	c.(700-702)ccC>ccT	p.P234P	PNCK_ENST00000447676.2_Silent_p.P294P|PNCK_ENST00000340888.3_Silent_p.P211P|PNCK_ENST00000370142.1_Silent_p.P234P|PNCK_ENST00000370145.4_Silent_p.P228P|PNCK_ENST00000370150.1_Silent_p.P211P	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	211	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTCGTAGAAGGGGGGGTACC	0.592000													16	4					0	0	0.000566183	0	0
SLC30A8	169026	broad.mit.edu	37	8	118165314	118165314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:118165314G>A	ENST00000427715.2	+	6	690	c.256G>A	c.(256-258)Gga>Aga	p.G86R	SLC30A8_ENST00000519688.1_Missense_Mutation_p.G86R|SLC30A8_ENST00000521243.1_Missense_Mutation_p.G86R|SLC30A8_ENST00000456015.2_Missense_Mutation_p.G135R	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	135					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GCTGACATTTGGATGGCACCG	0.517000													108	252					0	0	0.000781405	0	0
RRP36	88745	broad.mit.edu	37	6	42992810	42992810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:42992810G>A	ENST00000244496.5	+	2	228	c.218G>A	c.(217-219)aGt>aAt	p.S73N		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	73					ribosomal small subunit biogenesis|rRNA processing	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						GCTGGAAATAGTCCTAAGAAA	0.453000													36	29					0	0	0.000692331	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316043	30316043	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:30316043C>A	ENST00000375377.1	-	3	3135	c.3034G>T	c.(3034-3036)Gtg>Ttg	p.V1012L		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1012										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTTGGTTTCACAGAGCTGAAA	0.562000													74	49					9.42754e-34	4.56873e-33	0.000781405	1	0
CCDC19	25790	broad.mit.edu	37	1	159860385	159860385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:159860385G>A	ENST00000368099.4	-	3	221	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	53						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			AGCACAATGGGGCTGTCGCTC	0.527000													62	42					0	0	0.000781405	0	0
FAT3	120114	broad.mit.edu	37	11	92532464	92532464	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:92532464G>A	ENST00000298047.6	+	9	6302	c.6285G>A	c.(6283-6285)gtG>gtA	p.V2095V	FAT3_ENST00000409404.2_Silent_p.V2095V|FAT3_ENST00000525166.1_Silent_p.V1945V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2095	Cadherin 19.				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)				CTGTTCAAGTGGATGCGGAAC	0.483000										TCGA Ovarian(4;0.039)			303	39					0	0	0.000781405	0	0
SLC16A7	9194	broad.mit.edu	37	12	60168705	60168705	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:60168705A>G	ENST00000261187.4	+	4	793	c.629A>G	c.(628-630)aAg>aGg	p.K210R	SLC16A7_ENST00000547379.1_Missense_Mutation_p.K210R|SLC16A7_ENST00000543448.1_Missense_Mutation_p.K111R|SLC16A7_ENST00000552432.1_Missense_Mutation_p.K210R|SLC16A7_ENST00000552024.1_Missense_Mutation_p.K210R	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	210						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TCTAAAAATAAGACTGGCAAA	0.378000													17	24					0	0	0.000422831	0	0
N4BP2	55728	broad.mit.edu	37	4	40104513	40104513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:40104513C>T	ENST00000261435.6	+	4	1464	c.1048C>T	c.(1048-1050)Ctc>Ttc	p.L350F		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	350	Pro-rich.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ACTTGCTCCTCTCCCATTGCT	0.507000													14	38					0	0	0.000422831	0	0
EPG5	57724	broad.mit.edu	37	18	43445620	43445620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:43445620C>T	ENST00000282041.5	-	39	6760	c.6726G>A	c.(6724-6726)atG>atA	p.M2242I	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2242					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AGAGCTTAGACATTTCCTGTT	0.438000													41	48					0	0	0.00148497	0	0
UNC119B	84747	broad.mit.edu	37	12	121151120	121151120	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:121151120C>T	ENST00000344651.4	+	2	328	c.288C>T	c.(286-288)ttC>ttT	p.F96F	UNC119B_ENST00000539658.1_3'UTR	NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	96										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTATTGATTTCACCCGCTTCA	0.393000													146	288					0	0	0.000781405	0	0
SLC32A1	140679	broad.mit.edu	37	20	37353485	37353485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:37353485G>A	ENST00000217420.1	+	1	381	c.118G>A	c.(118-120)Gag>Aag	p.E40K		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	40					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CACGGATGAGGAGGCGGTGGG	0.637000													12	38					0	0	0.00136819	0	0
CPA5	93979	broad.mit.edu	37	7	129987662	129987662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:129987662G>A	ENST00000485477.1	+	3	1301	c.172G>A	c.(172-174)Gat>Aat	p.D58N	CPA5_ENST00000431780.2_Missense_Mutation_p.D58N|CPA5_ENST00000393213.3_Missense_Mutation_p.D58N|CPA5_ENST00000355388.3_Missense_Mutation_p.D58N|CPA5_ENST00000461828.1_Missense_Mutation_p.D58N|CPA5_ENST00000466363.2_Missense_Mutation_p.D58N|CPA5_ENST00000474905.1_Missense_Mutation_p.D58N			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	58					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					ACTTCTCGGGGATCTGGAGGG	0.577000													9	38					0	0	0.00136819	0	0
HMCN1	83872	broad.mit.edu	37	1	186022088	186022088	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:186022088C>T	ENST00000271588.4	+	43	6811	c.6582C>T	c.(6580-6582)ccC>ccT	p.P2194P	HMCN1_ENST00000367492.2_Silent_p.P2194P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2194					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTCTAGTCCCCCCAAATATTG	0.338000													48	44					0	0	0.000781405	0	0
GPX6	257202	broad.mit.edu	37	6	28483515	28483515	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:28483515G>A	ENST00000361902.1	-	1	55	c.6C>T	c.(4-6)ttC>ttT	p.F2F	GPX6_ENST00000474923.1_Silent_p.F2F|GPX6_ENST00000483058.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	2					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GGAACTGCTGGAACATGGCTA	0.537000													18	25					0	0	0.00121646	0	0
PCDH19	57526	broad.mit.edu	37	X	99551454	99551454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:99551454G>A	ENST00000373034.4	-	6	4943	c.3268C>T	c.(3268-3270)Cca>Tca	p.P1090S	PCDH19_ENST00000420881.2_Missense_Mutation_p.P1042S|PCDH19_ENST00000255531.7_Missense_Mutation_p.P1043S	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1090					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCACGGGCTGGGGGAGCCAGG	0.577000													28	5					0	0	0.00106085	0	0
TRPS1	7227	broad.mit.edu	37	8	116631597	116631597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:116631597C>T	ENST00000395715.3	-	3	1305	c.728G>A	c.(727-729)gGt>gAt	p.G243D	TRPS1_ENST00000520276.1_Missense_Mutation_p.G234D|TRPS1_ENST00000519674.1_Missense_Mutation_p.G230D|TRPS1_ENST00000220888.5_Missense_Mutation_p.G230D|TRPS1_ENST00000519076.1_Missense_Mutation_p.G184D	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	230					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCCGTAGTAACCATATCCACA	0.468000									Langer-Giedion syndrome				55	138					0	0	0.000781405	0	0
MUC5B	727897	broad.mit.edu	37	11	1271018	1271018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:1271018G>A	ENST00000447027.1	+	31	12975	c.12917G>A	c.(12916-12918)aGg>aAg	p.R4306K	MUC5B_ENST00000529681.1_Missense_Mutation_p.R4303K			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4303	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCAGTCCAAGGACTGCAACC	0.627000													40	55					0	0	0.00170553	0	0
WNK2	65268	broad.mit.edu	37	9	96055405	96055405	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:96055405G>A	ENST00000297954.4	+	23	5769	c.5769G>A	c.(5767-5769)tcG>tcA	p.S1923S	WNK2_ENST00000427277.2_Silent_p.S1498S|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_Silent_p.S248S|WNK2_ENST00000349097.3_Silent_p.S1535S|WNK2_ENST00000395477.2_Silent_p.S1886S			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1923					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ACAATGATTCGGAGCTCGAGG	0.617000													18	0					0	0	0.00152264	0	0
SORCS3	22986	broad.mit.edu	37	10	106937871	106937871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:106937871C>T	ENST00000369701.3	+	14	2176	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	650						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTTTCACTTCGGTTCCTCTC	0.473000													43	8					0	0	0.000781405	0	0
OPRL1	4987	broad.mit.edu	37	20	62729457	62729457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:62729457C>T	ENST00000349451.3	+	5	948	c.536C>T	c.(535-537)tCt>tTt	p.S179F	OPRL1_ENST00000355631.4_Missense_Mutation_p.S179F|OPRL1_ENST00000336866.2_Missense_Mutation_p.S179F	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	179					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GCCCTGGCCTCTGTTGTCGGT	0.647000													20	68					0	0	0.00152264	0	0
TRPV3	162514	broad.mit.edu	37	17	3424292	3424292	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:3424292G>A	ENST00000301365.4	-	14	1916	c.1785C>T	c.(1783-1785)atC>atT	p.I595I	TRPV3_ENST00000576742.1_Silent_p.I595I|TRPV3_ENST00000572519.1_Silent_p.I595I			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	595						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GCAAAAACACGATATATACAA	0.328000													123	6					0	0	0.000781405	0	0
PODN	127435	broad.mit.edu	37	1	53546448	53546448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:53546448C>T	ENST00000371500.3	+	11	1989	c.1648C>T	c.(1648-1650)Ccc>Tcc	p.P550S	PODN_ENST00000312553.5_Missense_Mutation_p.P569S|PODN_ENST00000395871.2_Missense_Mutation_p.P427S|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	521					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGAGGGGCTCCCCGAGTCACT	0.582000													9	39					0	0	0.000274275	0	0
SLURP1	57152	broad.mit.edu	37	8	143822687	143822687	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:143822687G>A	ENST00000246515.1	-	3	211	c.186C>T	c.(184-186)ccC>ccT	p.P62P		NM_020427.2	NP_065160.1	P55000	SLUR1_HUMAN	secreted LY6/PLAUR domain containing 1	62	UPAR/Ly6.				cell activation|cell adhesion	extracellular space	cytokine activity			breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCTGGTTGAAGGGGTACTCTG	0.682000													8	16					0	0	0.000157383	0	0
KLHL36	79786	broad.mit.edu	37	16	84695403	84695403	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:84695403C>T	ENST00000564996.1	+	5	1656	c.1515C>T	c.(1513-1515)atC>atT	p.I505I	KLHL36_ENST00000258157.5_Silent_p.I442I	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	505										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATGACAACATCGAGTCCATGG	0.677000													7	25					0	0	0.000157383	0	0
AMER3	205147	broad.mit.edu	37	2	131520787	131520787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:131520787C>T	ENST00000423981.1	+	2	1252	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	AMER3_ENST00000321420.4_Missense_Mutation_p.S381F	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GAATCCGTGTCCACAAGTGAC	0.637000													16	20					0	0	0.000422831	0	0
KDM2B	84678	broad.mit.edu	37	12	121972449	121972449	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:121972449C>A	ENST00000377069.4	-	7	1043	c.637G>T	c.(637-639)Gac>Tac	p.D213Y	KDM2B_ENST00000377071.4_Missense_Mutation_p.D244Y|KDM2B_ENST00000536437.1_Missense_Mutation_p.D127Y|KDM2B_ENST00000538046.2_Missense_Mutation_p.D244Y|KDM2B_ENST00000543852.1_Missense_Mutation_p.D13Y	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	244	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCTCCAAAGTCGATGTGGAAG	0.478000													43	36					4.64027e-19	2.2374e-18	0.000781405	1	0
SCML1	6322	broad.mit.edu	37	X	17768160	17768160	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:17768160C>T	ENST00000380043.3	+	5	697	c.369C>T	c.(367-369)tcC>tcT	p.S123S	SCML1_ENST00000398080.1_Silent_p.S29S|SCML1_ENST00000380041.3_Silent_p.S150S|SCML1_ENST00000380045.3_Silent_p.S29S	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	150					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					AGAATAATTCCCCGAGCAACC	0.498000													61	5					0	0	0.000781405	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267216	43267216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:43267216G>A	ENST00000372585.5	+	3	583	c.488G>A	c.(487-489)gGa>gAa	p.G163E	SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G161E|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G161E	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	163						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GTGGCCTTTGGATATCTGTCC	0.567000													50	47					0	0	0.000781405	0	0
NOD2	64127	broad.mit.edu	37	16	50745127	50745127	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:50745127G>A	ENST00000300589.2	+	4	1410	c.1305G>A	c.(1303-1305)agG>agA	p.R435R		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	435	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CGTTCCTCAGGAAGTACATCC	0.622000													44	26					0	0	0.000781405	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564661	176564661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:176564661G>A	ENST00000367662.3	+	3	3085	c.1921G>A	c.(1921-1923)Gac>Aac	p.D641N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D641N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	641	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CGACTTTGACGACGGAGACTG	0.597000													11	37					0	0	0.000978159	0	0
PRPF8	10594	broad.mit.edu	37	17	1579044	1579044	+	Silent	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:1579044C>A	ENST00000572621.1	-	18	3007	c.2742G>T	c.(2740-2742)ctG>ctT	p.L914L	PRPF8_ENST00000304992.6_Silent_p.L914L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	914						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTATCTTCTCCAGGGGCTCAA	0.527000													8	389					0.000673444	0.00319079	0.000673444	1	0
MAP4K1	11184	broad.mit.edu	37	19	39100614	39100614	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:39100614G>A	ENST00000591517.1	-	12	890	c.862C>T	c.(862-864)Ctt>Ttt	p.L288F	MAP4K1_ENST00000586296.1_Missense_Mutation_p.L288F|MAP4K1_ENST00000396857.2_Missense_Mutation_p.L288F|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589130.1_Missense_Mutation_p.L284F	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	288					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGTTTGTCAAGAAGATCCAGG	0.572000													14	23					0	0	0.000422831	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171067	207171067	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:207171067G>A	ENST00000374423.3	+	5	2201	c.1815G>A	c.(1813-1815)ctG>ctA	p.L605L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	605							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAAGAAACCTGAAAGGTAGAC	0.398000													26	31					0	0	0.000720815	0	0
MINK1	50488	broad.mit.edu	37	17	4789758	4789758	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:4789758C>T	ENST00000355280.6	+	10	982	c.786C>T	c.(784-786)ttC>ttT	p.F262F	MINK1_ENST00000453408.3_Silent_p.F262F|MINK1_ENST00000347992.7_Silent_p.F262F	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	262	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CTAAGAAGTTCATTGACTTCA	0.552000													330	12					0	0	0.000781405	0	0
COL22A1	169044	broad.mit.edu	37	8	139603680	139603680	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:139603680G>A	ENST00000303045.6	-	64	5126	c.4680C>T	c.(4678-4680)ccC>ccT	p.P1560P	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.P1540P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1560	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGATTCCAGGGGGTCCCATCT	0.602000										HNSCC(7;0.00092)			10	20					0	0	0.000978159	0	0
PCDHA12	56137	broad.mit.edu	37	5	140257385	140257385	+	Silent	SNP	T	T	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140257385T>A	ENST00000398631.2	+	1	2328	c.2328T>A	c.(2326-2328)ctT>ctA	p.L776L	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAAGCCTTCAGCTGTCTC	0.478000													8	15					0	0	0.000442599	0	0
NLRP1	22861	broad.mit.edu	37	17	5418189	5418189	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:5418189C>T	ENST00000345221.3	-	16	4729	c.4175G>A	c.(4174-4176)tGg>tAg	p.W1392*	NLRP1_ENST00000577119.1_Nonsense_Mutation_p.W1362*|NLRP1_ENST00000269280.4_Nonsense_Mutation_p.W1392*|NLRP1_ENST00000354411.3_Nonsense_Mutation_p.W1406*|NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000572272.1_Nonsense_Mutation_p.W1436*	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1436	CARD.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTTCCGGTCCCAGGACTGGCT	0.577000													135	5					0	0	0.000781405	0	0
DPPA3	359787	broad.mit.edu	37	12	7867807	7867807	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:7867807G>A	ENST00000345088.2	+	2	228	c.111G>A	c.(109-111)ttG>ttA	p.L37L		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	37						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CCGAGACGTTGATAAAGAACC	0.458000													60	46					0	0	0.000781405	0	0
PAQR5	54852	broad.mit.edu	37	15	69695940	69695940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:69695940C>T	ENST00000340965.3	+	9	1440	c.772C>T	c.(772-774)Cac>Tac	p.H258Y	RP11-253M7.1_ENST00000558617.1_RNA|PAQR5_ENST00000561153.1_Missense_Mutation_p.H258Y|RP11-253M7.1_ENST00000560539.1_RNA|PAQR5_ENST00000395407.2_Missense_Mutation_p.H258Y	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	258					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CCAGCTGTTTCACGTGTGTGT	0.493000													32	26					0	0	0.000953801	0	0
APOD	347	broad.mit.edu	37	3	195295875	195295875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:195295875G>A	ENST00000343267.3	-	5	827	c.466C>T	c.(466-468)Cct>Tct	p.P156S		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	156					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GTTTCTGGAGGGAGATTAGGG	0.443000													61	65					0	0	0.000781405	0	0
AES	166	broad.mit.edu	37	19	3054025	3054025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:3054025G>A	ENST00000221561.8	-	7	766	c.587C>T	c.(586-588)gCc>gTc	p.A196V	AES_ENST00000592330.1_Intron|AES_ENST00000586839.1_Missense_Mutation_p.A73V|AES_ENST00000327141.4_Missense_Mutation_p.A129V	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	129	CCN domain.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	p.A196D(1)		lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCTGGTGGGCTTGGAGCTG	0.716000													7	1					0	0	0.00198382	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175679	143175679	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:143175679C>T	ENST00000408916.1	+	1	714	c.714C>T	c.(712-714)tcC>tcT	p.S238S	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	238					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCCTCATCTCCTTCCTCATTC	0.507000													46	77					0	0	0.000781405	0	0
TRERF1	55809	broad.mit.edu	37	6	42236396	42236396	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:42236396C>T	ENST00000541110.1	-	5	1501	c.933G>A	c.(931-933)caG>caA	p.Q311Q	TRERF1_ENST00000340840.2_Silent_p.Q311Q|TRERF1_ENST00000372922.4_Silent_p.Q311Q|TRERF1_ENST00000372917.4_Silent_p.Q311Q|TRERF1_ENST00000354325.2_Silent_p.Q311Q			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	311	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			gcagctgtagctgctgcggct	0.577000													47	46					0	0	0.000781405	0	0
PLCL1	5334	broad.mit.edu	37	2	198950799	198950799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:198950799G>A	ENST00000428675.1	+	2	2956	c.2558G>A	c.(2557-2559)gGa>gAa	p.G853E	PLCL1_ENST00000437704.2_Missense_Mutation_p.G755E	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	853					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CGAAGTGGAGGAGGAAAGGCA	0.463000													19	22					0	0	0.00121646	0	0
USP29	57663	broad.mit.edu	37	19	57640713	57640713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:57640713C>T	ENST00000254181.4	+	4	1124	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	USP29_ENST00000598197.1_Missense_Mutation_p.L224F	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	224					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.L224F(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGATTTGAAACTCGGGCCTTC	0.363000													67	46					0	0	0.000781405	0	0
RPH3A	22895	broad.mit.edu	37	12	113303295	113303295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:113303295G>A	ENST00000389385.4	+	6	804	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	RPH3A_ENST00000548866.1_Missense_Mutation_p.E54K|RPH3A_ENST00000415485.3_Missense_Mutation_p.E103K|RPH3A_ENST00000420983.2_Missense_Mutation_p.E103K|RPH3A_ENST00000447659.2_Missense_Mutation_p.E54K|RPH3A_ENST00000543106.2_Missense_Mutation_p.E103K|RPH3A_ENST00000551052.1_Missense_Mutation_p.E99K	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	103	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.E99*(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ACTGTGTGGAGAACAGCTGGG	0.532000													47	28					0	0	0.000781405	0	0
SALL3	27164	broad.mit.edu	37	18	76753212	76753212	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:76753212C>T	ENST00000536229.3	+	1	1531	c.822C>T	c.(820-822)ttC>ttT	p.F274F	SALL3_ENST00000537592.2_Silent_p.F407F|SALL3_ENST00000575389.2_Silent_p.F407F			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGTCGGTGTTCGAGCCCAAAG	0.657000													11	18					0	0	0.000673444	0	0
MTMR1	8776	broad.mit.edu	37	X	149912857	149912857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:149912857C>T	ENST00000445323.2	+	13	1619	c.1498C>T	c.(1498-1500)Cat>Tat	p.H500Y	MTMR1_ENST00000538506.1_Missense_Mutation_p.H317Y|MTMR1_ENST00000544228.1_Missense_Mutation_p.H492Y|MTMR1_ENST00000541925.1_Missense_Mutation_p.H398Y|MTMR1_ENST00000451863.2_Missense_Mutation_p.H492Y|MTMR1_ENST00000370390.3_Missense_Mutation_p.H492Y			Q13613	MTMR1_HUMAN	myotubularin related protein 1	492	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TAATGACAACCATGCGGATGC	0.413000													41	6					0	0	0.000781405	0	0
CSTF2T	23283	broad.mit.edu	37	10	53458235	53458235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:53458235G>A	ENST00000331173.4	-	1	1120	c.1075C>T	c.(1075-1077)Cat>Tat	p.H359Y	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	359	Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GGACCCTGATGGGGTGGACCC	0.557000													36	29					0	0	0.000814825	0	0
CSRNP1	64651	broad.mit.edu	37	3	39184921	39184921	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:39184921G>A	ENST00000273153.5	-	5	1572	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	CSRNP1_ENST00000514182.1_Silent_p.F465F	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	465					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CACCATTTAGGAAGCAGCTGG	0.597000													11	18					0	0	0.000673444	0	0
ZNF442	79973	broad.mit.edu	37	19	12461073	12461073	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:12461073G>A	ENST00000242804.4	-	6	1908	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	ZNF442_ENST00000438182.1_Silent_p.F373F	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TAGAAATACGGAAGGCTTTAC	0.383000													47	37					0	0	0.000781405	0	0
LRP1	4035	broad.mit.edu	37	12	57598914	57598914	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:57598914C>T	ENST00000243077.3	+	73	11683	c.11217C>T	c.(11215-11217)acC>acT	p.T3739T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3739	LDL-receptor class A 31.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCACACCACCCACTGCAAAG	0.617000													33	10					0	0	0.000692331	0	0
OR2H2	7932	broad.mit.edu	37	6	29556177	29556177	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:29556177G>A	ENST00000383640.2	+	1	495	c.456G>A	c.(454-456)gtG>gtA	p.V152V	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	152					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TTGGGCTAGTGGAGTCAGTGG	0.602000													56	65					0	0	0.000781405	0	0
PHF8	23133	broad.mit.edu	37	X	54022212	54022212	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:54022212G>A	ENST00000338154.6	-	12	1741	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L	PHF8_ENST00000357988.5_Silent_p.L449L|PHF8_ENST00000338946.6_Silent_p.L413L|PHF8_ENST00000322659.8_Silent_p.L413L	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	449					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TGGTCTGGCAGAGCCTGTCAA	0.483000													13	3					0	0	0.00185496	0	0
GLIS3	169792	broad.mit.edu	37	9	4286371	4286371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:4286371C>T	ENST00000381971.3	-	2	648	c.55G>A	c.(55-57)Ggg>Agg	p.G19R		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	0					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		ATCCTAGGCCCCTGTGGGGTT	0.562000													34	2					0	0	0.0024448	0	0
IGHM	3507	broad.mit.edu	37	14	106322014	106322014	+	RNA	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:106322014G>A	ENST00000390559.2	-	0	309																											CCCTCACCTGGAAGAGGCACG	0.642000													61	44					0	0	0.000781405	0	0
GTPBP4	23560	broad.mit.edu	37	10	1054962	1054962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:1054962C>T	ENST00000360803.4	+	11	1260	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F	GTPBP4_ENST00000545048.1_Missense_Mutation_p.S346F|GTPBP4_ENST00000538293.1_Missense_Mutation_p.S277F|GTPBP4_ENST00000491635.1_3'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	393					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		ACTGAGGAGTCCAGGAAGAAG	0.557000													34	15					0	0	0.000814825	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65208001	65208001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:65208001C>T	ENST00000380230.3	+	2	69	c.40C>T	c.(40-42)Cct>Tct	p.P14S	ANKDD1A_ENST00000491145.1_3'UTR|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.P14S|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.P14S|ANKDD1A_ENST00000319580.8_Intron|ANKDD1A_ENST00000496660.1_Intron	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	14					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CACAGTGCTTCCTCTGGAGAG	0.577000													33	27					0	0	0.00128727	0	0
TIMP4	7079	broad.mit.edu	37	3	12195891	12195891	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:12195891T>C	ENST00000287814.4	-	4	923	c.413A>G	c.(412-414)gAg>gGg	p.E138G	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	138	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						GGACAGGTCCTCCCAGGGCTC	0.493000													57	259					0	0	0.000781405	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253821	32253821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:32253821C>T	ENST00000332378.4	-	1	53	c.23G>A	c.(22-24)aGa>aAa	p.R8K		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	8						keratin filament	structural molecule activity	p.R8I(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGAGCAATTTCTTGTGGAGCA	0.532000													52	78					0	0	0.000781405	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263148	140263148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:140263148C>T	ENST00000289272.2	+	1	1295	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S432L|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGGGGGCTCGCCTTCGCTG	0.652000													57	65					0	0	0.000781405	0	0
PTPN5	84867	broad.mit.edu	37	11	18759452	18759452	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:18759452C>T	ENST00000396170.1	-	9	2143	c.879G>A	c.(877-879)aaG>aaA	p.K293K	PTPN5_ENST00000358540.2_Silent_p.K325K|PTPN5_ENST00000477854.1_Silent_p.K129K|PTPN5_ENST00000396168.1_Silent_p.K301K|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396167.2_Silent_p.K293K|PTPN5_ENST00000396171.4_Silent_p.K325K	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	325						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TGTACCGGTTCTTCCGCACCA	0.582000													26	20					0	0	0.000878237	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617744	111617744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:111617744G>A	ENST00000374667.3	-	1	1495	c.467C>T	c.(466-468)cCc>cTc	p.P156L		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	156						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTTGCTGCTGGGGCTGAGCGG	0.612000													49	3					0	0	0.000781405	0	0
ATP2B2	491	broad.mit.edu	37	3	10452327	10452327	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:10452327G>A	ENST00000397077.1	-	5	947	c.372C>T	c.(370-372)taC>taT	p.Y124Y	ATP2B2_ENST00000383800.4_Silent_p.Y124Y|ATP2B2_ENST00000360273.2_Silent_p.Y124Y|ATP2B2_ENST00000343816.4_Silent_p.Y124Y|ATP2B2_ENST00000352432.4_Silent_p.Y124Y			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	124					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGGGCGGGTGGTAGAAGGACA	0.652000													48	125					0	0	0.000781405	0	0
TTF1	7270	broad.mit.edu	37	9	135254449	135254449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:135254449G>A	ENST00000334270.2	-	10	2500	c.2461C>T	c.(2461-2463)Cca>Tca	p.P821S	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	821					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TACTAACCTGGAAAAGTCTTT	0.383000													50	16					0	0	0.000781405	0	0
PLD1	5337	broad.mit.edu	37	3	171405331	171405331	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:171405331T>C	ENST00000356327.5	-	15	1653	c.1583A>G	c.(1582-1584)aAa>aGa	p.K528R	PLD1_ENST00000342215.6_Intron|PLD1_ENST00000340989.4_Missense_Mutation_p.K528R|PLD1_ENST00000351298.4_Missense_Mutation_p.K528R	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	528	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGGCTCATTTTTATCTTTGAG	0.368000													46	68					0	0	0.000781405	0	0
ZNF606	80095	broad.mit.edu	37	19	58511242	58511242	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:58511242G>A	ENST00000341164.4	-	4	731	c.111C>T	c.(109-111)gcC>gcT	p.A37A	ZNF606_ENST00000547828.1_Silent_p.A37A|ZNF606_ENST00000547121.1_Silent_p.A37A|ZNF606_ENST00000536132.1_Intron|ZNF606_ENST00000552579.1_Intron	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CCACGTGCCAGGCAGGATACT	0.597000													47	13					0	0	0.000680045	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284611	52284611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:52284611C>T	ENST00000301190.6	+	5	1108	c.881C>T	c.(880-882)cCc>cTc	p.P294L	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.P100L|ANKRD33_ENST00000340970.4_Missense_Mutation_p.P169L	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	169										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TTGAGCCTCCCCTTTGCCCCG	0.672000													10	9					0	0	0.000673444	0	0
KLK11	11012	broad.mit.edu	37	19	51527368	51527368	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:51527368G>A	ENST00000594768.1	-	4	677	c.492C>T	c.(490-492)tcC>tcT	p.S164S	KLK11_ENST00000600362.1_Intron|KLK11_ENST00000319720.7_Silent_p.S132S|KLK11_ENST00000391804.3_Silent_p.S157S|KLK11_ENST00000453757.3_Silent_p.S132S	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	164	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CACAGCGTGAGGAGAGGGTGA	0.622000													11	16					0	0	0.00136819	0	0
GDF3	9573	broad.mit.edu	37	12	7848199	7848199	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:7848199C>T	ENST00000329913.3	-	1	173	c.126G>A	c.(124-126)caG>caA	p.Q42Q		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	42					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GTTGGAACTTCTGGGGTGAAG	0.483000													13	25					0	0	0.00185496	0	0
USP29	57663	broad.mit.edu	37	19	57641411	57641411	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:57641411C>T	ENST00000254181.4	+	4	1822	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	USP29_ENST00000598197.1_Silent_p.I456I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	456					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCTCTCCATCAACCTGCACC	0.358000													102	69					0	0	0.000781405	0	0
FBXO34	55030	broad.mit.edu	37	14	55819194	55819194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:55819194C>T	ENST00000313833.4	+	2	2331	c.2086C>T	c.(2086-2088)Cgg>Tgg	p.R696W	FBXO34_ENST00000440021.1_Missense_Mutation_p.R696W	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	696								p.R696W(1)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CAGCTTTAATCGGGCAATCCA	0.488000													20	17					0	0	0.00121646	0	0
SERPINE1	5054	broad.mit.edu	37	7	100773852	100773852	+	Missense_Mutation	SNP	G	G	T	rs145904727		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:100773852G>T	ENST00000223095.4	+	3	579	c.422G>T	c.(421-423)cGg>cTg	p.R141L	SERPINE1_ENST00000445463.2_Missense_Mutation_p.R126L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	141					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	AGGCTGTTCCGGAGCACGGTC	0.537000													9	431					0.00185496	0.00877794	0.00185496	1	0
CDKAL1	54901	broad.mit.edu	37	6	20546711	20546711	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:20546711C>A	ENST00000274695.4	+	3	297	c.130C>A	c.(130-132)Caa>Aaa	p.Q44K	CDKAL1_ENST00000378610.1_Missense_Mutation_p.Q44K|CDKAL1_ENST00000378624.4_Silent_p.P11P	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	44					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	p.Q44K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GCGAAATACCCAAAAATATTT	0.368000													13	387					1.15088e-07	5.5052e-07	0.000422831	1	0
NUP62	23636	broad.mit.edu	37	19	50411714	50411714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:50411714G>A	ENST00000596217.1	-	2	3238	c.1351C>T	c.(1351-1353)Ctc>Ttc	p.L451F	IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597723.1_Missense_Mutation_p.L375F|NUP62_ENST00000422090.2_Missense_Mutation_p.L451F|NUP62_ENST00000597029.1_Missense_Mutation_p.L451F|NUP62_ENST00000352066.3_Missense_Mutation_p.L451F|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000413454.1_Missense_Mutation_p.L451F			P37198	NUP62_HUMAN	nucleoporin 62kDa	451					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ATGTCCTTGAGATCCTGGGCC	0.592000													43	183					0	0	0.000680045	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752709	62752709	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:62752709C>T	ENST00000331425.6	-	0	726					NR_003952.1																						GGTTTGCGGACCAGCTAAAGG	0.418000													16	17					0	0	0.00074312	0	0
FAM83B	222584	broad.mit.edu	37	6	54806494	54806494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:54806494G>A	ENST00000306858.7	+	5	2841	c.2725G>A	c.(2725-2727)Gaa>Aaa	p.E909K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	909										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGTTACCCCTGAAAGAAGACC	0.458000													41	44					0	0	0.000509022	0	0
N4BP2	55728	broad.mit.edu	37	4	40104811	40104811	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:40104811C>G	ENST00000261435.6	+	4	1762	c.1346C>G	c.(1345-1347)cCg>cGg	p.P449R		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	449						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGAGGTCTTCCGGGATCTGGA	0.363000													13	31					0	0	0.000308642	0	0
LRP1B	53353	broad.mit.edu	37	2	141946119	141946119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:141946119C>T	ENST00000389484.3	-	7	1855	c.884G>A	c.(883-885)cGa>cAa	p.R295Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	295					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAGAGATTTCGAGTGAGCCA	0.408000										TSP Lung(27;0.18)			23	40					0	0	0.000375601	0	0
FSTL1	11167	broad.mit.edu	37	3	120123744	120123744	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:120123744G>A	ENST00000295633.3	-	7	893	c.537C>T	c.(535-537)atC>atT	p.I179I	FSTL1_ENST00000424703.2_Silent_p.I144I	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	179					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TTGTAATATTGATGGCAGTTT	0.443000													63	120					0	0	0.000781405	0	0
GPR65	8477	broad.mit.edu	37	14	88477762	88477762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:88477762G>A	ENST00000267549.3	+	2	1129	c.571G>A	c.(571-573)Ggc>Agc	p.G191S	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	191					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GACGTGTACAGGCTATGCAAT	0.413000													40	32					0	0	0.00222228	0	0
TINAGL1	64129	broad.mit.edu	37	1	32051447	32051447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:32051447G>A	ENST00000271064.7	+	10	1263	c.1187G>A	c.(1186-1188)cGg>cAg	p.R396Q	TINAGL1_ENST00000457433.2_Missense_Mutation_p.R365Q|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	396					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		AGATACCGCCGGCATGGGACC	0.612000													10	9					0	0	0.000673444	0	0
FSTL4	23105	broad.mit.edu	37	5	132585176	132585176	+	Missense_Mutation	SNP	C	C	T	rs151107205		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:132585176C>T	ENST00000265342.7	-	7	1069	c.820G>A	c.(820-822)Gga>Aga	p.G274R	FSTL4_ENST00000507112.1_5'UTR	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	274	Ig-like 1.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCAGGTCTCCATGGACGGCG	0.582000													19	22					0	0	0.00152264	0	0
PDZD2	23037	broad.mit.edu	37	5	31799773	31799773	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:31799773G>A	ENST00000438447.1	+	2	806	c.418G>A	c.(418-420)Gat>Aat	p.D140N	PDZD2_ENST00000282493.3_Missense_Mutation_p.D140N			O15018	PDZD2_HUMAN	PDZ domain containing 2	140	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCGACTGCGGGATGAGATCCT	0.597000													44	68					0	0	0.000781405	0	0
GABRA4	2557	broad.mit.edu	37	4	46930341	46930341	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:46930341G>A	ENST00000264318.3	-	9	2548	c.1566C>T	c.(1564-1566)gcC>gcT	p.A522A		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	522					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGAGAATACGGGCATATTTGT	0.413000													41	42					0	0	0.00148497	0	0
SPN	6693	broad.mit.edu	37	16	29675345	29675345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr16:29675345C>T	ENST00000360121.3	+	2	388	c.296C>T	c.(295-297)tCc>tTc	p.S99F	AC009133.19_ENST00000449759.1_Intron|SPN_ENST00000395389.2_Missense_Mutation_p.S99F	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	99					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CAGGAAGTTTCCATCAAGATG	0.522000													62	25					0	0	0.000781405	0	0
UGT2A3	79799	broad.mit.edu	37	4	69816923	69816923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:69816923G>A	ENST00000251566.4	-	1	586	c.556C>T	c.(556-558)Cca>Tca	p.P186S	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	186						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGTGGAGCTGGAAGTTTCCCA	0.448000													9	11					0	0	0.000274275	0	0
NRAP	4892	broad.mit.edu	37	10	115374691	115374691	+	Silent	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:115374691T>C	ENST00000369358.4	-	28	3361	c.3117A>G	c.(3115-3117)gaA>gaG	p.E1039E	NRAP_ENST00000360478.3_Silent_p.E996E|NRAP_ENST00000369360.3_Silent_p.E1004E|NRAP_ENST00000359988.3_Silent_p.E1031E			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1031						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGCTCCAGGATTCCTTATAAC	0.458000													39	6					0	0	0.000509022	0	0
SIGLEC6	946	broad.mit.edu	37	19	52023467	52023467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:52023467G>A	ENST00000346477.3	-	7	1251	c.1183C>T	c.(1183-1185)Cct>Tct	p.P395S	SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P341L|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.P359S|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P352L|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P411S	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	411					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GCCTCAGCAGGGTGGTCTGAA	0.512000													63	262					0	0	0.000781405	0	0
MAVS	57506	broad.mit.edu	37	20	3844958	3844958	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:3844958C>T	ENST00000428216.2	+	6	809	c.681C>T	c.(679-681)ttC>ttT	p.F227F	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Silent_p.F86F	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	227					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CTGTCTCCTTCCAGCCCCTGG	0.607000													37	88					0	0	0.00148497	0	0
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													5	74					0	0	0.000602214	0	0
ITGA4	3676	broad.mit.edu	37	2	182363425	182363425	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:182363425G>A	ENST00000397033.2	+	15	2046	c.1616G>A	c.(1615-1617)gGa>gAa	p.G539E		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	539					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TCTTCTAATGGAACTTCTGAC	0.363000													43	34					0	0	0.000680045	0	0
OR4N4	283694	broad.mit.edu	37	15	22382645	22382645	+	Missense_Mutation	SNP	C	C	T	rs148988194		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:22382645C>T	ENST00000328795.4	+	1	264	c.173C>T	c.(172-174)cCc>cTc	p.P58L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCACAGCCCCCCTCTATTTA	0.458000													12	310					0	0	0.000953801	0	0
COL22A1	169044	broad.mit.edu	37	8	139833474	139833474	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:139833474G>A	ENST00000303045.6	-	7	1596	c.1150C>T	c.(1150-1152)Ctg>Ttg	p.L384L	COL22A1_ENST00000435777.1_Silent_p.L384L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	384	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTCTGCACCAGCGCACAGTCA	0.572000										HNSCC(7;0.00092)			26	64					0	0	0.000878237	0	0
LILRP2	79166	broad.mit.edu	37	19	55221331	55221331	+	RNA	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:55221331C>T	ENST00000413439.1	+	0	1118																											ACTCTTCTTTCCCTCCAGGCG	0.622000													5	29					0	0	0.000602214	0	0
WBSCR22	114049	broad.mit.edu	37	7	73108352	73108352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:73108352C>T	ENST00000265758.2	+	10	731	c.673C>T	c.(673-675)Ccc>Tcc	p.P225S	WBSCR22_ENST00000423497.1_Missense_Mutation_p.P225S|WBSCR22_ENST00000423166.2_3'UTR	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	225						nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGAAGTTGAACCCAGGGAGTC	0.547000													25	94					0	0	0.000878237	0	0
DNAJC2	27000	broad.mit.edu	37	7	102956221	102956221	+	Silent	SNP	T	T	C			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:102956221T>C	ENST00000379263.3	-	15	1876	c.1626A>G	c.(1624-1626)gaA>gaG	p.E542E	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Silent_p.E489E	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	542					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						CTTCAAATCGTTCTGAAGGCG	0.383000													72	22					0	0	0.000781405	0	0
CLCN1	1180	broad.mit.edu	37	7	143047536	143047536	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:143047536C>T	ENST00000343257.2	+	21	2562	c.2475C>T	c.(2473-2475)ccC>ccT	p.P825P		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	825	CBS 2.				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ACCAGTCTCCCTTCCAGCTGG	0.562000													36	8					0	0	0.000953801	0	0
SYNJ1	8867	broad.mit.edu	37	21	34018874	34018874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr21:34018874G>A	ENST00000382499.2	-	24	3192	c.3193C>T	c.(3193-3195)Ctt>Ttt	p.L1065F	SYNJ1_ENST00000357345.3_Missense_Mutation_p.L1026F|SYNJ1_ENST00000322229.7_Missense_Mutation_p.L1026F|SYNJ1_ENST00000382491.3_Missense_Mutation_p.L1021F|SYNJ1_ENST00000433931.2_Missense_Mutation_p.L1065F	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1026	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TGCTGAGGAAGAAGTTCCTCC	0.468000													30	49					0	0	0.001512	0	0
NXPE1	120400	broad.mit.edu	37	11	114401269	114401269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:114401269C>T	ENST00000536312.1	-	6	1353	c.461G>A	c.(460-462)gGa>gAa	p.G154E	NXPE1_ENST00000251921.2_Missense_Mutation_p.G12E|NXPE1_ENST00000424269.1_Missense_Mutation_p.G154E					neurexophilin and PC-esterase domain family, member 1																		CATCACCTTTCCTGAAGCACC	0.572000													18	6					0	0	0.000958276	0	0
OSBP2	23762	broad.mit.edu	37	22	31091279	31091279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr22:31091279C>T	ENST00000332585.6	+	1	487	c.383C>T	c.(382-384)tCc>tTc	p.S128F	OSBP2_ENST00000382310.3_Missense_Mutation_p.S128F|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000446658.2_Missense_Mutation_p.S128F|OSBP2_ENST00000407373.1_Intron	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	128					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GAGCCGCTCTCCCGGGCGGTG	0.667000													38	42					0	0	0.00128727	0	0
XDH	7498	broad.mit.edu	37	2	31587102	31587102	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:31587102G>A	ENST00000379416.3	-	24	2601	c.2553C>T	c.(2551-2553)ttC>ttT	p.F851F		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	851					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CAGTCTTCATGAAGCCAACCT	0.532000													29	52					0	0	0.00209593	0	0
SCN5A	6331	broad.mit.edu	37	3	38592273	38592273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:38592273C>T	ENST00000413689.1	-	28	5783	c.5590G>A	c.(5590-5592)Gag>Aag	p.E1864K	SCN5A_ENST00000423572.2_Missense_Mutation_p.E1863K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1846K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E1846K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E1864K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E1810K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E1863K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E1810K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E1831K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E1810K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1864					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCCCCAGACTCCCCCAGGACC	0.557000													32	80					0	0	0.00058488	0	0
OTUD7A	161725	broad.mit.edu	37	15	31776795	31776795	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:31776795C>T	ENST00000382902.1	-	11	1596	c.1504G>A	c.(1504-1506)Gac>Aac	p.D502N	OTUD7A_ENST00000307050.4_Missense_Mutation_p.D495N			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	495						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		ttctccttgtccttGCCGTTC	0.607000													10	10					0	0	0.000978159	0	0
AHNAK	79026	broad.mit.edu	37	11	62291668	62291668	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:62291668G>A	ENST00000378024.4	-	5	10495	c.10221C>T	c.(10219-10221)ttC>ttT	p.F3407F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3407					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAATACTCAGGAAAGGCATTT	0.388000													48	33					0	0	0.000781405	0	0
LINS	55180	broad.mit.edu	37	15	101113849	101113849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:101113849G>A	ENST00000561308.1	-	5	1382	c.1229C>T	c.(1228-1230)tCt>tTt	p.S410F	LINS_ENST00000559149.1_Intron|LINS_ENST00000560133.1_Missense_Mutation_p.S291F|LINS_ENST00000314742.8_Intron			Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	0										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						GGAGTTTGGAGAATTACCTTT	0.308000													9	17					0	0	0.000274275	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826135	43826135	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:43826135G>A	ENST00000389420.3	-	21	3067	c.3068C>T	c.(3067-3069)cCc>cTc	p.P1023L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1023L|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P177L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1023	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGCCCAACTGGGACAGGAAAA	0.388000													24	19					0	0	0.000375601	0	0
MAP3K5	4217	broad.mit.edu	37	6	136980431	136980431	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:136980431G>A	ENST00000359015.4	-	9	1812	c.1452C>T	c.(1450-1452)gcC>gcT	p.A484A		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	484					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CTAGGACGCTGGCCCCCAGAA	0.403000													40	5					0	0	0.00170553	0	0
ZNF608	57507	broad.mit.edu	37	5	123977036	123977036	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:123977036G>A	ENST00000306315.5	-	7	4794	c.4359C>T	c.(4357-4359)tcC>tcT	p.S1453S	ZNF608_ENST00000513985.1_5'UTR|ZNF608_ENST00000504926.1_Silent_p.S1026S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1453						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGCCGAAGGGGGAGTGGCGAT	0.572000													13	42					0	0	0.000219431	0	0
UNC45A	55898	broad.mit.edu	37	15	91486206	91486206	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:91486206C>T	ENST00000394275.2	+	11	1711	c.876C>T	c.(874-876)gtC>gtT	p.V292V	UNC45A_ENST00000418476.2_Silent_p.V307V|UNC45A_ENST00000553671.2_3'UTR	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	307					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGGTGGGGGTCTCTGGCCAAG	0.577000													224	211					0	0	0.000781405	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368978	86368978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:86368978C>T	ENST00000400286.2	-	2	2264	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	556	LRRCT 2.					integral to membrane		p.E556K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GCTTTCAATTCCTTTTTGTCG	0.453000													38	30					0	0	0.00148497	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434766	42434766	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:42434766G>A	ENST00000397272.3	-	19	2386	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F	PLA2G4F_ENST00000382396.4_Silent_p.F763F	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	763	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TAACCAGGGGGAAGTGCAGCA	0.632000													35	43					0	0	0.00195071	0	0
OR52N1	79473	broad.mit.edu	37	11	5809841	5809841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:5809841G>A	ENST00000317078.1	-	1	205	c.206C>T	c.(205-207)tCc>tTc	p.S69F	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	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													29	38					0	0	0.000878237	0	0
GCLC	2729	broad.mit.edu	37	6	53379056	53379056	+	Silent	SNP	C	C	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr6:53379056C>A	ENST00000229416.6	-	6	1182	c.699G>T	c.(697-699)ccG>ccT	p.P233P	GCLC_ENST00000514004.1_Silent_p.P233P	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	233					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	p.P233P(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AAATATGATCCGGCTTAGAAG	0.363000													5	111					0.00198382	0.00936454	0.00198382	1	0
GRIN2B	2904	broad.mit.edu	37	12	13761666	13761666	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:13761666G>A	ENST00000279593.3	-	9	2090	c.1881C>T	c.(1879-1881)acC>acT	p.T627T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	627					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGATCTTGGAGGTGGTCCCCT	0.522000													24	26					0	0	0.00106085	0	0
CFH	3075	broad.mit.edu	37	1	196694353	196694353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:196694353G>A	ENST00000367429.4	+	12	2039	c.1799G>A	c.(1798-1800)gGa>gAa	p.G600E		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	600	Sushi 10.				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						TGCAAACCAGGATTTACAATA	0.398000													35	19					0	0	0.00058488	0	0
OBSCN	84033	broad.mit.edu	37	1	228479646	228479646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:228479646G>A	ENST00000570156.2	+	44	11748	c.11674G>A	c.(11674-11676)Gaa>Aaa	p.E3892K	OBSCN_ENST00000284548.11_Missense_Mutation_p.E3463K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E2310K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E3463K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E582K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E582K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2929	Ig-like 40.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAGGCCGTGGAAGGGGCCAC	0.582000													9	31					0	0	0.000442599	0	0
MFRP	83552	broad.mit.edu	37	11	119214621	119214621	+	Silent	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:119214621G>A	ENST00000555262.1	-	9	1188	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000360167.4_Intron|MFRP_ENST00000449574.2_Silent_p.F343F|MFRP_ENST00000530681.1_Silent_p.F343F	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		TGAAGTTGTGGAACTGTAGTT	0.577000													54	5					0	0	0.000781405	0	0
CA13	377677	broad.mit.edu	37	8	86180738	86180738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:86180738C>T	ENST00000321764.3	+	6	853	c.551C>T	c.(550-552)tCt>tTt	p.S184F	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	184					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						GACCTATTGTCTCTGCTTCCA	0.398000													56	57					0	0	0.000781405	0	0
MBD5	55777	broad.mit.edu	37	2	149243398	149243398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr2:149243398C>T	ENST00000407073.1	+	11	3930	c.2933C>T	c.(2932-2934)cCa>cTa	p.P978L	MBD5_ENST00000404807.1_Missense_Mutation_p.P1211L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	978						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATGTTTCCTCCAAATCAGCAA	0.433000													36	41					0	0	0.000953801	0	0
ZNF441	126068	broad.mit.edu	37	19	11891506	11891506	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:11891506T>G	ENST00000357901.4	+	4	969	c.867T>G	c.(865-867)ttT>ttG	p.F289L	ZNF441_ENST00000454339.2_Missense_Mutation_p.F222L	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAAAGCATTTTATCATCTTG	0.403000													41	27					0	0	0.00222228	0	0
C9orf131	138724	broad.mit.edu	37	9	35044082	35044082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:35044082G>A	ENST00000312292.5	+	2	1503	c.1456G>A	c.(1456-1458)Ggc>Agc	p.G486S	C9orf131_ENST00000354479.5_Missense_Mutation_p.G413S|C9orf131_ENST00000421362.2_Missense_Mutation_p.G438S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	486										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TCTAGTAATGGGCCCCCAGGG	0.537000													49	8					0	0	0.000781405	0	0
FAM135B	51059	broad.mit.edu	37	8	139380153	139380153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:139380153C>T	ENST00000395297.1	-	2	244	c.74G>A	c.(73-75)aGa>aAa	p.R25K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	25								p.R25T(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TACTTACCCTCTCTGAAAGAG	0.388000										HNSCC(54;0.14)			25	74					0	0	0.000586117	0	0
SFRP1	6422	broad.mit.edu	37	8	41122947	41122947	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr8:41122947C>T	ENST00000220772.3	-	3	1021	c.684G>A	c.(682-684)aaG>aaA	p.K228K	SFRP1_ENST00000379845.3_Silent_p.K92K	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	228	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			GCTTCTTCTTCTTGGGGACAA	0.473000													25	50					0	0	0.000586117	0	0
PTGS1	5742	broad.mit.edu	37	9	125140259	125140259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:125140259C>T	ENST00000362012.2	+	3	181	c.176C>T	c.(175-177)aCc>aTc	p.T59I	PTGS1_ENST00000223423.4_Missense_Mutation_p.T59I|PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000540753.1_Missense_Mutation_p.T34I	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	59	EGF-like.				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TGTGACTGCACCCGCACGGGC	0.607000													29	3					0	0	0.001512	0	0
PSMA1	5682	broad.mit.edu	37	11	14526784	14526784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:14526784G>A	ENST00000530457.1	-	10	1201	c.671C>T	c.(670-672)cCt>cTt	p.P224L	PSMA1_ENST00000396394.2_Missense_Mutation_p.P249L|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000418988.2_Missense_Mutation_p.P255L|PSMA1_ENST00000396393.1_Missense_Mutation_p.P249L|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000555531.1_3'UTR			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	249					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						TTCATCAGCAGGTTGAGCAGG	0.323000													41	104					0	0	0.000781405	0	0
ADH7	131	broad.mit.edu	37	4	100349317	100349317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr4:100349317G>A	ENST00000437033.2	-	4	777	c.274C>T	c.(274-276)Cct>Tct	p.P92S	ADH7_ENST00000209665.4_Missense_Mutation_p.P104S|ADH7_ENST00000476959.1_Missense_Mutation_p.P112S|ADH7_ENST00000482593.1_Missense_Mutation_p.P35S			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	104			G -> A (in dbSNP:rs1573496).		ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	AGAAAGAGAGGGATGACTTTG	0.358000													35	55					0	0	0.00058488	0	0
FPR2	2358	broad.mit.edu	37	19	52272199	52272199	+	Silent	SNP	C	C	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:52272199C>T	ENST00000598776.1	+	2	1060	c.288C>T	c.(286-288)ttC>ttT	p.F96F	FPR2_ENST00000598953.1_Silent_p.F96F|FPR2_ENST00000340023.6_Silent_p.F96F	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	96					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TTGGCTGGTTCCTGTGTAAGT	0.478000													30	129					0	0	0.00058488	0	0
ESPN	83715	broad.mit.edu	37	1	6500831	6500831	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:6500831delC	ENST00000377828.1	+	4	989	c.821delC	c.(820-822)acfs	p.T274fs		NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	274					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGGCGGGACCCCGCTGCAC	0.751													2	4	---	---	---	---					
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)afs	p.E116fs	DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505													7	61	---	---	---	---					
BEST4	266675	broad.mit.edu	37	1	45249992	45249992	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:45249992delG	ENST00000372207.3	-	9	1311	c.1312delC	c.(1312-1314)gcfs	p.R438fs		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	438						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					TGCGGGGGGCGGGGGGTGCCT	0.776													2	4	---	---	---	---					
CCDC18	343099	broad.mit.edu	37	1	93683360	93683371	+	In_Frame_Del	DEL	AGCCTTTGAAAA	AGCCTTTGAAAA	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:93683360_93683371delAGCCTTTGAAAA	ENST00000343253.7	+	14	2395_2406	c.1893_1904delAGCCTTTGAAAA	c.(1891-1905)tta>tt	p.LAFEK631del	CCDC18_ENST00000401026.3_In_Frame_Del_p.LAFEK632del|CCDC18_ENST00000338949.4_Intron|CCDC18_ENST00000557479.1_In_Frame_Del_p.LAFEK750del|CCDC18_ENST00000334652.5_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	631										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAATTTGTTTAGCCTTTGAAAAAGCAAAGAAA	0.288													11	124	---	---	---	---					
MIA3	375056	broad.mit.edu	37	1	222837459	222837459	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr1:222837459delT	ENST00000344922.5	+	27	5407	c.5382delT	c.(5380-5382)ccfs	p.P1794fs	MIA3_ENST00000340535.7_Frame_Shift_Del_p.P672fs|MIA3_ENST00000344441.6_Frame_Shift_Del_p.P1794fs|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1794	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TCTGCGGACCTTTTGGGCCTC	0.537													7	649	---	---	---	---					
POLQ	10721	broad.mit.edu	37	3	121207488	121207489	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:121207488_121207489insA	ENST00000264233.5	-	16	4417_4418	c.4289_4290insT	c.(4288-4290)taafs	p.*1430fs		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1430					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CATTCTTTTTTAAAAAAAGACC	0.342								DNA polymerases (catalytic subunits)					8	51	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2																						AAAGCATGAACTTACGGAATCT	0.401													3	4	---	---	---	---					
SPOCK1	6695	broad.mit.edu	37	5	136448181	136448181	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr5:136448181delA	ENST00000394945.1	-	5	586	c.417delT	c.(415-417)tgfs	p.C139fs	SPOCK1_ENST00000282223.7_Frame_Shift_Del_p.C139fs	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	139	Kazal-like.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGCCACGGGACAGGGCTTGC	0.458													19	45	---	---	---	---					
STAG3L4	64940	broad.mit.edu	37	7	66770959	66770959	+	RNA	DEL	T	T	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:66770959delT	ENST00000416602.2	+	0	265					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				gtcATCTGTATTTTTTTTTTA	0.353													8	158	---	---	---	---					
TYW1B	441250	broad.mit.edu	37	7	72159821	72159821	+	RNA	DEL	T	T	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr7:72159821delT	ENST00000438125.1	-	0	984							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TCCTTAGTAATTTTTTTTTTT	0.388													9	67	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21974715	21974732	+	In_Frame_Del	DEL	GCAGCGCCCCCGCCTCCA	GCAGCGCCCCCGCCTCCA	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr9:21974715_21974732delGCAGCGCCCCCGCCTCCA	ENST00000304494.5	-	1	365_382	c.95_112delTGGAGGCGGGGGCGCTGC	c.(94-114)ccc>c	p.LEAGALP32del	CDKN2A_ENST00000579122.1_In_Frame_Del_p.LEAGALP32del|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_In_Frame_Del_p.LEAGALP32del|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_In_Frame_Del_p.LEAGALP32del	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	32			L -> P (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.G35E(3)|p.L37L(2)|p.A34V(2)|p.V28_E33del(2)|p.E33*(2)|p.R29_A34del(2)|p.G35R(2)|p.A36T(1)|p.E33D(1)|p.A34A(1)|p.E33fs*8(1)|p.L37fs*6(1)|p.R29fs*9(1)|p.A36fs*8(1)|p.0(1)|p.L32R(1)|p.G35fs*13(1)|p.V28_V51del(1)|p.P38fs*7(1)|p.G35V(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGTGCGTTGGGCAGCGCCCCCGCCTCCAGCAGCGCCCG	0.711		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			90	74	---	---	---	---					
PDZD7	79955	broad.mit.edu	37	10	102778804	102778804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr10:102778804delC	ENST00000370215.3	-	8	1324	c.1099delG	c.(1099-1101)acfs	p.D367fs		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	367						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		ATGGCTGTGTCCGCCCGCCCC	0.736											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
KRTAP5-6	440023	broad.mit.edu	37	11	1718543	1718557	+	In_Frame_Del	DEL	GCTGTGGGTCCAGCT	GCTGTGGGTCCAGCT	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr11:1718543_1718557delGCTGTGGGTCCAGCT	ENST00000382160.1	+	1	119_133	c.68_82delGCTGTGGGTCCAGCT	c.(67-84)ggc>g	p.GCGSSC23del		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	23						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCTGTGGGGGCTGTGGGTCCAGCTGCTGTGTGCC	0.656													24	59	---	---	---	---					
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr12:49087434_49087436delATG	ENST00000261900.3	-	9	1783_1785	c.1561_1563delCAT	c.(1561-1563)del	p.H521del		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	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													7	485	---	---	---	---					
SACS	26278	broad.mit.edu	37	13	23908923	23908941	+	Frame_Shift_Del	DEL	AGTAAATTGTCAAAAAATG	AGTAAATTGTCAAAAAATG	-	rs144616826		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:23908923_23908941delAGTAAATTGTCAAAAAATG	ENST00000382298.3	-	10	9662_9680	c.9074_9092delCATTTTTTGACAATTTACT	c.(9073-9093)cafs	p.PFFDNLL3025fs	SACS_ENST00000402364.1_Frame_Shift_Del_p.PFFDNLL2275fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.PFFDNLL3025fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3025					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTCATCCTGTAGTAAATTGTCAAAAAATGGTCTAGTTTT	0.352													14	61	---	---	---	---					
HSPH1	10808	broad.mit.edu	37	13	31715381	31715382	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:31715381_31715382insT	ENST00000320027.5	-	13	2075_2076	c.1731_1732insA	c.(1729-1734)aattgafs	p.N*577fs	HSPH1_ENST00000429785.2_Frame_Shift_Ins_p.N*396fs|HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.N*533fs|HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.N*536fs|HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.N*579fs	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	577					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GGCTGGTCAACTTTTTTTTCAT	0.376													7	116	---	---	---	---					
SPRYD7	57213	broad.mit.edu	37	13	50502187	50502187	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr13:50502187delA	ENST00000378195.2	-	2	395	c.141delT	c.(139-141)gtfs	p.V47fs	SPRYD7_ENST00000361840.3_Frame_Shift_Del_p.V86fs	NM_001127482.1	NP_001120954.1	Q5W111	SPRY7_HUMAN	SPRY domain containing 7	86	B30.2/SPRY.									haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						GATTCAAGTTAACCTTCTGAG	0.393													10	43	---	---	---	---					
TCL6	27004	broad.mit.edu	37	14	96129844	96129844	+	RNA	DEL	C	C	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr14:96129844delC	ENST00000467865.1	+	0	252				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		aggtttcctgccccagtgctc	0.532			T	TRA@	T-ALL								8	17	---	---	---	---					
ULK4P3	89837	broad.mit.edu	37	15	30406088	30406089	+	RNA	INS	-	-	T			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr15:30406088_30406089insT	ENST00000568486.1	+	0	402					NR_026859.1																						TGCCTCAAAAGTTTTTTTTTTT	0.297													7	27	---	---	---	---					
CCDC144CP	348254	broad.mit.edu	37	17	20227624	20227624	+	RNA	DEL	A	A	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:20227624delA	ENST00000340196.4	+	0	568																											AAAAAGAAGTAAGAGTCAGGA	0.318													6	4	---	---	---	---					
DHX8	1659	broad.mit.edu	37	17	41584910	41584915	+	In_Frame_Del	DEL	GAAACA	GAAACA	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr17:41584910_41584915delGAAACA	ENST00000262415.3	+	14	2035_2040	c.1963_1968delGAAACA	c.(1963-1968)del	p.ET655del	DHX8_ENST00000540306.1_In_Frame_Del_p.ET655del	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	655	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CACTAGCCCTGAAACAGTCATCAAGT	0.476													18	18	---	---	---	---					
LPIN2	9663	broad.mit.edu	37	18	2939491	2939495	+	Frame_Shift_Del	DEL	GGGAA	GGGAA	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr18:2939491_2939495delGGGAA	ENST00000261596.4	-	6	1043_1047	c.805_809delTTCCC	c.(805-810)afs	p.FP269fs		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	269					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGTGGACTCTGGGAATCCGCCCCAC	0.502													32	13	---	---	---	---					
SBK2	646643	broad.mit.edu	37	19	56041414	56041415	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr19:56041414_56041415delCC	ENST00000413299.1	-	4	769_770	c.732_733delGG	c.(730-735)ctacfs	p.LD244fs	SBK2_ENST00000344158.3_Frame_Shift_Del_p.LD244fs	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	244	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCCCAGGCGTCCAGGGCGGGCT	0.752													2	4	---	---	---	---					
INSM1	3642	broad.mit.edu	37	20	20350010	20350010	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:20350010delT	ENST00000310227.1	+	1	1246	c.1099delT	c.(1099-1101)acfs	p.Y367fs		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	367					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		GGACGGGCTCTACGAGTGCCA	0.741													7	4	---	---	---	---					
FRG1B	284802	broad.mit.edu	37	20	29628229	29628230	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chr20:29628229_29628230insA	ENST00000278882.3	+	6	611_612	c.231_232insA	c.(229-234)ggaaatfs	p.N78fs	FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.N83fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.N78fs																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCACTTAGGGGAAAATGGCTTT	0.351													9	97	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-EE-A3AG-06A-31D-A196-08	TCGA-EE-A3AG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0687b673-2aff-4c35-8bf6-db58424fd301	1f4737a1-4b81-4037-8c7a-a57c4b80b7ed	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			3	5	---	---	---	---					
