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
SNHG14	104472715	broad.mit.edu	37	15	25453259	25453259	+	RNA	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:25453259G>C	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-21_ENST00000362963.1_RNA	NR_003305.1																						TATATTTTCTGAAGAGAGGTG	0.532000													33	159					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753891	76753891	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr18:76753891C>A	ENST00000536229.3	+	1	2210	c.1501C>A	c.(1501-1503)Ccc>Acc	p.P501T	SALL3_ENST00000537592.2_Missense_Mutation_p.P634T|SALL3_ENST00000575389.2_Missense_Mutation_p.P634T			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	634					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)		CCTCGGCAGCCCCGGGCTGCC	0.701000													7	7					1.26484e-09	1.82677e-09	1	1	0
RP11-407N17.3	0	broad.mit.edu	37	14	39709792	39709792	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:39709792A>T	ENST00000553728.1	+	3	490	c.277A>T	c.(277-279)Aga>Tga	p.R93*	MIA2_ENST00000280082.3_Nonsense_Mutation_p.R93*|MIA2_ENST00000556784.1_Nonsense_Mutation_p.R92*																							ATATTTTCCCAGAGATGCAGT	0.318000													6	30					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2361622	2361622	+	Splice_Site	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr20:2361622G>T	ENST00000202625.2	+	1	68		c.e1+1		TGM6_ENST00000381423.1_Splice_Site	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6						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)	CACATGGCAGGTAAGTGGGCA	0.582000													4	8					0.00909568	0.00974	1	1	0
MYH7	4625	broad.mit.edu	37	14	23901022	23901022	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:23901022G>T	ENST00000355349.3	-	7	749	c.587C>A	c.(586-588)gCt>gAt	p.A196D		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	196	Myosin head-like.		A -> T (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCAATAACAGCAAAGTACTG	0.562000													24	57					0.00395357	0.00434654	1	1	0
AMPD1	270	broad.mit.edu	37	1	115229485	115229485	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:115229485G>T	ENST00000369538.3	-	3	396	c.349C>A	c.(349-351)Cta>Ata	p.L117I	AMPD1_ENST00000520113.2_Missense_Mutation_p.L121I|AMPD1_ENST00000353928.6_Missense_Mutation_p.L88I	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	88					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GTTTCACTTAGTGGAATGGAC	0.398000													6	48					3.59834e-05	4.32277e-05	1	1	0
EXOC8	149371	broad.mit.edu	37	1	231473128	231473128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:231473128C>A	ENST00000366645.1	-	1	470	c.352G>T	c.(352-354)Gag>Tag	p.E118*	SPRTN_ENST00000391858.4_5'UTR|EXOC8_ENST00000360394.2_Nonsense_Mutation_p.E122*			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	122					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CCGACTCCCTCCTCCCCTCCA	0.721000													6	47					0.00116845	0.00130515	1	1	0
OAS1	4938	broad.mit.edu	37	12	113348990	113348990	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:113348990C>T	ENST00000452357.2	+	3	794	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	OAS1_ENST00000551241.1_Missense_Mutation_p.P202S|OAS1_ENST00000445409.2_Missense_Mutation_p.P202S|OAS1_ENST00000202917.5_Missense_Mutation_p.P202S|RP1-71H24.1_ENST00000552784.1_RNA	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	202					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GAAGCAGCGCCCCACCAAGCT	0.562000													11	46					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23521211	23521211	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:23521211G>T	ENST00000296682.3	+	6	613	c.431G>T	c.(430-432)gGc>gTc	p.G144V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	144					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						AATGCAAGTGGCTCAGAGCAG	0.428000										HNSCC(3;0.000094)			6	94					0.00116845	0.00130515	1	1	0
C3orf58	205428	broad.mit.edu	37	3	143704451	143704451	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:143704451G>T	ENST00000315691.3	+	2	1259	c.724G>T	c.(724-726)Gta>Tta	p.V242L	C3orf58_ENST00000495414.1_Missense_Mutation_p.V33L|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.V4L	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	242						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AATGGTGGCTGTAAATTATGT	0.388000													12	55					3.07112e-06	3.89037e-06	1	1	0
PCDH17	27253	broad.mit.edu	37	13	58299346	58299346	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:58299346T>A	ENST00000377918.3	+	4	3424	c.3398T>A	c.(3397-3399)gTg>gAg	p.V1133E		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1133					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGAGAGTCTGTGGATGCAGAG	0.488000													20	114					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4928672	4928672	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:4928672A>G	ENST00000359350.4	+	1	73	c.73A>G	c.(73-75)Att>Gtt	p.I25V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACATGCCCACATTTGGTTCTC	0.478000													12	45					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241907701	241907701	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:241907701G>T	ENST00000366552.2	+	12	1654	c.1447G>T	c.(1447-1449)Gaa>Taa	p.E483*	WDR64_ENST00000437684.2_Nonsense_Mutation_p.E483*	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	483										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ATAGGTATGGGAACTCGAGAC	0.393000													32	32					9.8876e-21	1.79361e-20	1	1	0
VAV2	7410	broad.mit.edu	37	9	136654437	136654437	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:136654437G>C	ENST00000371851.1	-	13	1527	c.1202C>G	c.(1201-1203)cCa>cGa	p.P401R	VAV2_ENST00000371850.3_Missense_Mutation_p.P406R|VAV2_ENST00000406606.3_Missense_Mutation_p.P401R			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	406					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GTCAATCTTTGGTCTTCCAAA	0.622000													18	130					0	0	1	0	0
FAM153B	202134	broad.mit.edu	37	5	175530295	175530295	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:175530295G>T	ENST00000253490.4	+	13	787	c.730G>T	c.(730-732)Gtg>Ttg	p.V244L	FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Missense_Mutation_p.V167L|FAM153B_ENST00000510151.1_Missense_Mutation_p.V167L			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	244										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)		CCCAGAGGAGGTGAAGGTCAG	0.433000													9	161					5.50884e-06	6.88225e-06	1	1	0
LARP4B	23185	broad.mit.edu	37	10	875465	875465	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:875465C>A	ENST00000316157.3	-	10	1025	c.985G>T	c.(985-987)Gtg>Ttg	p.V329L		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	329							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TACAGGCTCACGTCCAGGGGT	0.483000													5	59					0.014758	0.0155645	1	1	0
RASL10A	10633	broad.mit.edu	37	22	29709882	29709882	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr22:29709882T>A	ENST00000401450.3	-	2	759	c.314A>T	c.(313-315)aAg>aTg	p.K105M	RASL10A_ENST00000474590.1_5'UTR|RASL10A_ENST00000216101.6_Missense_Mutation_p.K105M			Q92737	RSLAA_HUMAN	RAS-like, family 10, member A	105	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)	1						CCGCAGGGCCTTCACGTAGTC	0.652000													13	34					0	0	1	0	0
STAM	8027	broad.mit.edu	37	10	17702528	17702528	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:17702528G>T	ENST00000377524.3	+	2	321	c.106G>T	c.(106-108)Gtt>Ttt	p.V36F	STAM_ENST00000540523.1_5'UTR	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	36	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CTGTGATAAAGTTGGTCAGTC	0.413000													26	30					5.45024e-15	9.05379e-15	1	1	0
NXPH1	30010	broad.mit.edu	37	7	8790693	8790693	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:8790693G>T	ENST00000405863.1	+	3	1021	c.110G>T	c.(109-111)aGc>aTc	p.S37I	NXPH1_ENST00000602349.1_5'UTR|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	37	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AAATCAGGAAGCAGCAAATCC	0.423000													24	38					2.79863e-10	4.16808e-10	1	1	0
ZNF835	90485	broad.mit.edu	37	19	57175054	57175054	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:57175054G>T	ENST00000537055.2	-	2	1744	c.1513C>A	c.(1513-1515)Cca>Aca	p.P505T		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GTGGGAGCTGGGCAAAGGCGT	0.622000													31	147					7.01153e-11	1.05289e-10	1	1	0
LRP2	4036	broad.mit.edu	37	2	170044637	170044637	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:170044637A>C	ENST00000263816.3	-	49	9456	c.9171T>G	c.(9169-9171)tgT>tgG	p.C3057W		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3057	LDL-receptor class A 24.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATCCGTCTCCACAGTCATTAT	0.517000													41	70					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915056	48915056	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:48915056G>T	ENST00000294954.7	-	11	1901	c.1880C>A	c.(1879-1881)aCt>aAt	p.T627N	LHCGR_ENST00000405626.1_Missense_Mutation_p.T600N|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.T565N|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	627					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GAATGTCTTAGTGAATATTGC	0.358000													26	49					1.85244e-09	2.6501e-09	1	1	0
IGHG1	3500	broad.mit.edu	37	14	106203921	106203921	+	RNA	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:106203921G>T	ENST00000390548.2	-	0	1377																											GCTATGCACAGGGTCTGGAAG	0.667000													3	2					0.004672	0.00506878	1	1	0
IL4I1	259307	broad.mit.edu	37	19	50394674	50394674	+	Silent	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:50394674C>T	ENST00000595948.1	-	8	1310	c.690G>A	c.(688-690)agG>agA	p.R230R	IL4I1_ENST00000391826.2_Silent_p.R208R|IL4I1_ENST00000341114.3_Silent_p.R230R	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	208						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		AGAGCGTGTGCCTTTCAAACT	0.567000													14	73					0	0	1	0	0
CTRC	11330	broad.mit.edu	37	1	15771157	15771157	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:15771157G>T	ENST00000375949.4	+	6	576	c.550G>T	c.(550-552)Gcc>Tcc	p.A184S	CTRC_ENST00000375943.2_Intron|CTRC_ENST00000483406.1_Intron	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	184	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGATCACGCCACGTGCTC	0.627000													29	33					3.73808e-20	6.6741e-20	1	1	0
AGBL1	123624	broad.mit.edu	37	15	86838559	86838559	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:86838559C>A	ENST00000441037.2	+	16	2251	c.2156C>A	c.(2155-2157)aCg>aAg	p.T719K	AGBL1_ENST00000421325.2_Missense_Mutation_p.T719K|AGBL1_ENST00000389298.3_Missense_Mutation_p.T450K	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	719					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.T719M(1)		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						CTCTGCCAGACGCTGGGAGGG	0.507000													5	29					0.014758	0.0155645	1	1	0
PHKG1	5260	broad.mit.edu	37	7	56148957	56148957	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:56148957G>A	ENST00000452681.2	-	11	1199	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	PHKG1_ENST00000297373.2_Silent_p.I318I|PHKG1_ENST00000537360.1_Silent_p.I264I	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	318	Calmodulin-binding (domain-C).				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACTGGTAGTAGATCCGCACTG	0.682000													18	35					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22841048	22841048	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr21:22841048A>T	ENST00000400546.1	+	14	2089	c.1840A>T	c.(1840-1842)Acc>Tcc	p.T614S	NCAM2_ENST00000284894.7_Missense_Mutation_p.T472S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	614	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ACTCAGCATCACCAAACAGGA	0.388000													7	37					0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69098327	69098327	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:69098327A>T	ENST00000295379.1	-	1	322	c.164T>A	c.(163-165)cTc>cAc	p.L55H		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	55					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CATGCTCTGGAGCAGTGTGTT	0.488000													15	47					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72997702	72997702	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr18:72997702G>T	ENST00000322038.5	+	2	789	c.205G>T	c.(205-207)Gca>Tca	p.A69S	TSHZ1_ENST00000580243.1_Missense_Mutation_p.A114S	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	114	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGACAGCCTGGCACAGATCAA	0.552000													7	16					0.0381472	0.0394522	1	1	0
LRRC17	10234	broad.mit.edu	37	7	102574465	102574465	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:102574465G>T	ENST00000249377.4	+	2	386	c.105G>T	c.(103-105)gcG>gcT	p.A35A	FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000339431.4_Silent_p.A35A|FBXL13_ENST00000313221.4_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	35					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		p.A35A(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATGGCCGGGCGGGTGGAGGCC	0.552000													32	22					3.03874e-20	5.44691e-20	1	1	0
MUC16	94025	broad.mit.edu	37	19	9002608	9002608	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:9002608C>A	ENST00000397910.4	-	51	40411	c.40208G>T	c.(40207-40209)aGc>aTc	p.S13403I	MUC16_ENST00000380951.5_Missense_Mutation_p.S44I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13405	SEA 9.				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						CAGTCCAGGGCTTTTGGGGTC	0.572000													18	103					9.7654e-05	0.000115629	1	1	0
URGCP	55665	broad.mit.edu	37	7	43921536	43921536	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:43921536C>A	ENST00000336086.6	-	2	2240	c.4G>T	c.(4-6)Gaa>Taa	p.E2*	URGCP_ENST00000446958.1_Nonsense_Mutation_p.E36*|URGCP_ENST00000453200.1_Nonsense_Mutation_p.E45*|URGCP_ENST00000443736.1_Nonsense_Mutation_p.E2*|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Nonsense_Mutation_p.E2*|URGCP_ENST00000447717.3_Nonsense_Mutation_p.E2*|URGCP_ENST00000402306.3_Nonsense_Mutation_p.E36*|RP5-1165K10.1_ENST00000603700.1_Nonsense_Mutation_p.E36*			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	45					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						tcatctccttccatttcTCTC	0.408000													96	58					2.5264e-35	4.99226e-35	1	1	0
MTNR1B	4544	broad.mit.edu	37	11	92715335	92715335	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:92715335C>A	ENST00000257068.2	+	2	952	c.946C>A	c.(946-948)Cgc>Agc	p.R316S		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	316					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CCAAAACTTCCGCAGGGAATA	0.542000													38	209					6.29468e-14	1.03242e-13	1	1	0
TTN	7273	broad.mit.edu	37	2	179444007	179444007	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:179444007A>T	ENST00000589042.1	-	320	67974	c.67750T>A	c.(67750-67752)Tgg>Agg	p.W22584R	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W20016R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W20943R|TTN_ENST00000460472.2_Missense_Mutation_p.W13519R|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W13644R|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W13711R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20943	Fibronectin type-III 64.		P -> L.				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)			CCTTTCTTCCAGGAGACTGAT	0.443000													24	38					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55658737	55658737	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:55658737G>T	ENST00000449290.2	+	7	1080	c.988G>T	c.(988-990)Gta>Tta	p.V330L	TRIM51_ENST00000244891.3_Missense_Mutation_p.V187L	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	330	B30.2/SPRY.					intracellular	zinc ion binding										ATGTTTTCTTGTATGGGGGGC	0.418000													22	57					3.08376e-08	4.21231e-08	1	1	0
DDN	23109	broad.mit.edu	37	12	49391073	49391073	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:49391073C>G	ENST00000421952.2	-	2	1607	c.1586G>C	c.(1585-1587)gGc>gCc	p.G529A		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	529	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CTCAGCTTcgcccccgcggcc	0.692000													10	22					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10417306	10417306	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:10417306C>A	ENST00000397077.1	-	10	1664	c.1089G>T	c.(1087-1089)acG>acT	p.T363T	ATP2B2_ENST00000383800.4_Silent_p.T363T|ATP2B2_ENST00000360273.2_Silent_p.T408T|ATP2B2_ENST00000343816.4_Silent_p.T394T|ATP2B2_ENST00000352432.4_Silent_p.T408T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	408					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						GGATGATCACCGTGATGGCTG	0.562000													19	19					1.00905e-13	1.6431e-13	1	1	0
CCDC138	165055	broad.mit.edu	37	2	109463246	109463246	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:109463246G>T	ENST00000295124.4	+	12	1436	c.1376G>T	c.(1375-1377)gGa>gTa	p.G459V	CCDC138_ENST00000412964.2_Missense_Mutation_p.G459V	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	459										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						ATTTTTAAAGGAGTGGTAACT	0.348000													9	40					5.4927e-09	7.72385e-09	1	1	0
MYLK	4638	broad.mit.edu	37	3	123418892	123418892	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:123418892G>A	ENST00000360772.3	-	19	3801	c.3423C>T	c.(3421-3423)acC>acT	p.T1141T	MYLK_ENST00000475616.1_Silent_p.T1141T|MYLK_ENST00000360304.3_Silent_p.T1141T|MYLK_ENST00000359169.1_Silent_p.T1141T|MYLK_ENST00000346322.5_Silent_p.T1072T			Q15746	MYLK_HUMAN	myosin light chain kinase	1141	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7.				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)		TGATGAACTTGGTGGTCTTGA	0.577000													12	91					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43604161	43604161	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr22:43604161C>A	ENST00000360835.3	-	20	2777	c.2651G>T	c.(2650-2652)cGc>cTc	p.R884L		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	884	CUB.				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	p.R884H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CTTGCGGGAGCGGGAGGTGAA	0.562000													50	79					2.24722e-20	4.0361e-20	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803529	185803529	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:185803529C>A	ENST00000302277.6	+	4	4000	c.3406C>A	c.(3406-3408)Cca>Aca	p.P1136T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1136						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTCCCAAATCCCAGCTCTCAC	0.542000													14	109					1.05317e-09	1.53327e-09	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105407964	105407964	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:105407964C>A	ENST00000333244.5	-	7	13943	c.13824G>T	c.(13822-13824)gcG>gcT	p.A4608A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4608						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)			CCTCAAGCCGCGCACCATCCA	0.587000													32	112					5.60225e-13	8.97746e-13	1	1	0
FBXO46	23403	broad.mit.edu	37	19	46215705	46215705	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:46215705G>A	ENST00000317683.3	-	2	1182	c.1049C>T	c.(1048-1050)gCg>gTg	p.A350V		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	350							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CGGAGGGGGCGCCGGGGGAGT	0.692000													6	28					0	0	1	0	0
OPN5	221391	broad.mit.edu	37	6	47754333	47754333	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:47754333G>T	ENST00000489301.2	+	2	298	c.213G>T	c.(211-213)atG>atT	p.M71I	OPN5_ENST00000371211.2_Missense_Mutation_p.M71I|OPN5_ENST00000393699.2_Missense_Mutation_p.M71I			Q6U736	OPN5_HUMAN	opsin 5	71					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						CTGAAATAATGACTATCAATT	0.388000													24	23					2.79863e-10	4.16808e-10	1	1	0
RFWD2	64326	broad.mit.edu	37	1	176050385	176050385	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:176050385C>T	ENST00000367669.3	-	11	1694	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	RFWD2_ENST00000308769.8_Missense_Mutation_p.E370K	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	394					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GACAAGCATTCCTGAAATTCA	0.348000													7	62					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	391063	391063	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:391063G>T	ENST00000256509.2	+	10	1512	c.870G>T	c.(868-870)tgG>tgT	p.W290C	CHL1_ENST00000397491.2_Missense_Mutation_p.W274C	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	274	Ig-like C2-type 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGGTTGATTGGAACAAAATTG	0.343000													9	20					5.4927e-09	7.72385e-09	1	1	0
POSTN	10631	broad.mit.edu	37	13	38145519	38145519	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:38145519T>A	ENST00000379747.4	-	18	2283	c.2166A>T	c.(2164-2166)gaA>gaT	p.E722D	POSTN_ENST00000379749.4_Missense_Mutation_p.E722D|POSTN_ENST00000379742.4_Intron|POSTN_ENST00000541179.1_Missense_Mutation_p.E695D|POSTN_ENST00000379743.4_Missense_Mutation_p.E695D|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000497145.1_5'UTR	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	722					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CATGGATCACTTCAGTTATTG	0.383000													10	28					0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29770053	29770053	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr18:29770053C>A	ENST00000269202.6	+	1	67	c.20C>A	c.(19-21)tCt>tAt	p.S7Y	MEP1B_ENST00000581447.1_Missense_Mutation_p.S7Y	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	7					digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGGAATCTGTCTTGGTTTCTG	0.333000													6	9					3.59834e-05	4.32277e-05	1	1	0
IFNA17	3451	broad.mit.edu	37	9	21228138	21228138	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:21228138A>G	ENST00000413767.2	-	1	83	c.35T>C	c.(34-36)cTg>cCg	p.L12P		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	12					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GCTGAGCACCAGCACGGCCAT	0.498000													10	39					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31809650	31809650	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:31809650C>A	ENST00000446923.2	+	7	1730	c.1339C>A	c.(1339-1341)Cct>Act	p.P447T	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.P464T|ZEB1_ENST00000320985.10_Missense_Mutation_p.P463T|ZEB1_ENST00000542815.3_Missense_Mutation_p.P396T|ZEB1_ENST00000560721.2_Missense_Mutation_p.P443T	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	463					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CATCAGTCTTCCTTTGGTTGA	0.373000													28	20					3.73148e-12	5.84534e-12	1	1	0
OR2W3	343171	broad.mit.edu	37	1	248059580	248059580	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:248059580C>G	ENST00000537741.1	+	3	949	c.692C>G	c.(691-693)gCa>gGa	p.A231G	OR2W3_ENST00000360358.3_Missense_Mutation_p.A231G			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATTCGGTCAGCATCAGGAAGG	0.532000													71	199					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96708978	96708978	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:96708978A>T	ENST00000260682.6	+	5	768	c.756A>T	c.(754-756)caA>caT	p.Q252H		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	252					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)	AAGAACACCAAGAATCAATGG	0.328000													5	14					0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38229078	38229078	+	Silent	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:38229078C>T	ENST00000558158.1	+	4	325	c.171C>T	c.(169-171)ggC>ggT	p.G57G	TMCO5A_ENST00000540944.1_Silent_p.G57G|TMCO5A_ENST00000559502.1_Silent_p.G57G|TMCO5A_ENST00000319669.4_Silent_p.G57G			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	57				G -> D (in Ref. 1; BAC04065).		integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						AGACGCGGGGCCTGGTGGAAG	0.512000													3	28					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27564992	27564992	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:27564992C>A	ENST00000359541.2	-	4	1107	c.678G>T	c.(676-678)aaG>aaT	p.K226N	AC109828.1_ENST00000590383.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.K226N			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	226						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCCGGATCTTCTTCGGTT	0.567000													11	43					1.33987e-11	2.05628e-11	1	1	0
ZIM3	114026	broad.mit.edu	37	19	57646839	57646839	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:57646839C>A	ENST00000269834.1	-	5	1251	c.866G>T	c.(865-867)aGg>aTg	p.R289M		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		TGAGTTCTGCCTGAAGGATTT	0.373000													8	54					0.00307968	0.00338989	1	1	0
RDH8	50700	broad.mit.edu	37	19	10131393	10131393	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:10131393T>A	ENST00000591589.1	+	4	700	c.511T>A	c.(511-513)Ttc>Atc	p.F171I	RDH8_ENST00000171214.1_Missense_Mutation_p.F151I			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	151					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)	AGGTGTCATCTTCAACGATGT	0.557000													4	19					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1413267	1413267	+	Silent	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:1413267G>C	ENST00000381524.3	+	8	879	c.693G>C	c.(691-693)acG>acC	p.T231T	CSF2RA_ENST00000361536.3_Silent_p.T231T|CSF2RA_ENST00000355432.3_Silent_p.T231T|CSF2RA_ENST00000417535.2_Silent_p.T231T|CSF2RA_ENST00000381500.1_Silent_p.T231T|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000501036.2_Silent_p.T98T|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381509.3_Silent_p.T231T|CSF2RA_ENST00000381529.3_Silent_p.T231T|CSF2RA_ENST00000432318.2_Silent_p.T231T			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	231						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCAACACGACGCACTGCCTCG	0.567000													9	126					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49694656	49694656	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:49694656G>C	ENST00000296452.4	+	5	7781	c.7667G>C	c.(7666-7668)cGg>cCg	p.R2556P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2556					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)		ATCAAGAAGCGGCACTCCATG	0.627000													6	46					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088867	9088867	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:9088867G>A	ENST00000397910.4	-	1	3151	c.2948C>T	c.(2947-2949)aCc>aTc	p.T983I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	983	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						TGAAACAGTGGTTGTTGCTGA	0.463000													22	139					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189940160	189940160	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:189940160G>T	ENST00000374866.3	-	17	1337	c.1063C>A	c.(1063-1065)Caa>Aaa	p.Q355K		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	355					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)			GCACCTCGTTGTCCCTAATTA	0.299000													6	20					0.0381472	0.0394522	1	1	0
ADAM33	80332	broad.mit.edu	37	20	3652825	3652825	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr20:3652825G>T	ENST00000356518.2	-	14	1794	c.1553C>A	c.(1552-1554)gCa>gAa	p.A518E	ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Missense_Mutation_p.A518E|ADAM33_ENST00000350009.2_Missense_Mutation_p.A518E	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	518	Cys-rich.				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						CGTGGGACATGCGCCATCCCA	0.657000													25	32					3.28513e-13	5.29238e-13	1	1	0
WNT7A	7476	broad.mit.edu	37	3	13896175	13896175	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:13896175G>T	ENST00000285018.4	-	3	728	c.424C>A	c.(424-426)Cac>Aac	p.H142N		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	142					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TCGTCCCGGTGGTACTGGCCT	0.637000													41	75					2.26627e-22	4.22945e-22	1	1	0
RBM41	55285	broad.mit.edu	37	X	106359173	106359173	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:106359173G>A	ENST00000372487.1	-	3	263	c.237C>T	c.(235-237)gaC>gaT	p.D79D	RBM41_ENST00000471079.1_5'UTR|RBM41_ENST00000372479.3_Silent_p.D79D|RBM41_ENST00000203616.8_Silent_p.D79D	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	79							nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						CAGTTTCCTGGTCCTTCTCAT	0.453000													13	22					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103404644	103404644	+	Splice_Site	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:103404644C>A	ENST00000358392.2	-	44	3738	c.3420_splice	c.e44-1	p.G1141_splice	COL11A1_ENST00000353414.4_Splice_Site_p.G1090_splice|COL11A1_ENST00000370096.3_Splice_Site_p.G1129_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G1013_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1129	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAATTTCACCCTGAAATTGA	0.323000													25	33					4.87955e-14	8.01767e-14	1	1	0
KRBA2	124751	broad.mit.edu	37	17	8285577	8285577	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:8285577G>A	ENST00000582471.1	-	2	102	c.52C>T	c.(52-54)Cat>Tat	p.H18Y	RPL26_ENST00000585176.1_Intron|RPL26_ENST00000584164.1_Missense_Mutation_p.H18Y|RPL26_ENST00000578812.1_Missense_Mutation_p.H18Y|RPL26_ENST00000582556.1_Missense_Mutation_p.H18Y|RPL26_ENST00000583011.1_Missense_Mutation_p.H18Y|RPL26_ENST00000293842.5_Missense_Mutation_p.H18Y																							GCATTGAAATGCCTTTTGCGA	0.403000													5	37					0	0	1	0	0
MSRB1	51734	broad.mit.edu	37	16	1990778	1990778	+	Splice_Site	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:1990778C>G	ENST00000361871.3	-	3	489		c.e3+1		MSRB1_ENST00000399753.2_Splice_Site|MSRB1_ENST00000564908.1_Splice_Site	NM_016332.2	NP_057416.1	Q9NZV6	MSRB1_HUMAN	methionine sulfoxide reductase B1						protein repair	cytoplasm|nucleus	peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding									L-Methionine(DB00134)	AGCAAGCTCACCTTTAGGGAC	0.582000													12	26					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231829578	231829578	+	Missense_Mutation	SNP	G	G	T	rs143922209	byFrequency	TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:231829578G>T	ENST00000439617.2	+	2	127	c.74G>T	c.(73-75)cGg>cTg	p.R25L	DISC1_ENST00000539444.1_Missense_Mutation_p.R25L|DISC1_ENST00000537876.1_Missense_Mutation_p.R25L|DISC1_ENST00000317586.4_Missense_Mutation_p.R25L|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000602281.1_Missense_Mutation_p.R25L|DISC1_ENST00000535983.1_Missense_Mutation_p.R25L|DISC1_ENST00000366636.4_Missense_Mutation_p.R25L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.R25L|TRAX_ENST00000602962.1_3'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	25	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CCAGGCAGCCGGGATTGCTTA	0.562000													9	85					1.58986e-06	2.03673e-06	1	1	0
KIAA0430	9665	broad.mit.edu	37	16	15698083	15698083	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:15698083C>A	ENST00000396368.3	-	22	4561	c.4355G>T	c.(4354-4356)tGt>tTt	p.C1452F	KIAA0430_ENST00000547936.1_5'UTR|KIAA0430_ENST00000602337.1_Missense_Mutation_p.C1449F|KIAA0430_ENST00000551742.1_Missense_Mutation_p.C1452F|KIAA0430_ENST00000548025.1_Missense_Mutation_p.C1449F|KIAA0430_ENST00000540441.2_Missense_Mutation_p.C1287F|KIAA0430_ENST00000344181.3_Missense_Mutation_p.C1054F	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1451						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCATATTCACAGGGGTTAAG	0.448000													7	51					0.0477658	0.0492313	1	1	0
SSTR1	6751	broad.mit.edu	37	14	38678882	38678882	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:38678882C>A	ENST00000267377.2	+	3	905	c.288C>A	c.(286-288)taC>taA	p.Y96*		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	96					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CCAACATCTACATCCTAAATC	0.562000													70	148					2.36135e-34	4.64587e-34	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26165078	26165078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr22:26165078C>T	ENST00000335473.7	+	4	1445	c.1195C>T	c.(1195-1197)Cag>Tag	p.Q399*	MYO18B_ENST00000407587.2_Nonsense_Mutation_p.Q399*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.Q399*	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	399						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						GGGGCAACCCCAGGGTAAGTC	0.592000													5	14					0	0	1	0	0
FOXO3	2309	broad.mit.edu	37	6	108984958	108984958	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:108984958G>T	ENST00000406360.1	+	2	1265	c.922G>T	c.(922-924)Gac>Tac	p.D308Y	FOXO3_ENST00000343882.6_Missense_Mutation_p.D308Y|FOXO3_ENST00000540898.1_Missense_Mutation_p.D88Y	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	308				PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860).	antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		TGCGTGGACGGACTTCCGTTC	0.607000													21	22					1.87028e-06	2.39259e-06	1	1	0
SASH1	23328	broad.mit.edu	37	6	148867155	148867155	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:148867155G>T	ENST00000367467.3	+	19	3828	c.3353G>T	c.(3352-3354)gGc>gTc	p.G1118V		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1118							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGGCAGCATGGCCGCTGTGGG	0.522000													30	47					5.77227e-19	1.01462e-18	1	1	0
KCNAB1	7881	broad.mit.edu	37	3	155838414	155838414	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:155838414G>C	ENST00000490337.1	+	1	78	c.14G>C	c.(13-15)cGg>cCg	p.R5P	KCNAB1_ENST00000389636.5_Missense_Mutation_p.R5P	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	5						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CTGGCAGCCCGGACAGGGGCA	0.507000													10	133					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122756717	122756717	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:122756717A>T	ENST00000227349.2	+	2	457	c.160A>T	c.(160-162)Att>Ttt	p.I54F	C11orf63_ENST00000531316.1_Missense_Mutation_p.I54F|C11orf63_ENST00000307257.6_Missense_Mutation_p.I54F	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	54										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CACGCAAGAGATTATGTGCCA	0.488000													40	52					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174904	63174904	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:63174904C>A	ENST00000322893.7	-	11	2557	c.2289G>T	c.(2287-2289)acG>acT	p.T763T	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	763					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGGCCAGAGACGTCTGAATGG	0.517000													22	51					3.62473e-10	5.37195e-10	1	1	0
CDH10	1008	broad.mit.edu	37	5	24498572	24498572	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:24498572C>A	ENST00000264463.4	-	9	1957	c.1450G>T	c.(1450-1452)Gac>Tac	p.D484Y	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	484	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGGGCATTGTCATTAACATCC	0.403000										HNSCC(23;0.051)			16	65					5.01169e-05	5.98894e-05	1	1	0
LRRC16A	55604	broad.mit.edu	37	6	25517610	25517610	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:25517610A>C	ENST00000329474.6	+	22	2209	c.1841A>C	c.(1840-1842)cAa>cCa	p.Q614P		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	614					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ATCACTGCACAAGGCTTTCAG	0.308000													14	11					0	0	1	0	0
B3GAT2	135152	broad.mit.edu	37	6	71665602	71665602	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:71665602C>A	ENST00000230053.6	-	1	1139	c.531G>T	c.(529-531)caG>caT	p.Q177H		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)	177					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCACGCCGGGCTGCGCGCGCT	0.721000													12	8					4.3838e-07	5.73753e-07	1	1	0
KCNJ4	3761	broad.mit.edu	37	22	38823151	38823151	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr22:38823151G>A	ENST00000303592.3	-	2	1245	c.987C>T	c.(985-987)taC>taT	p.Y329Y	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	329					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					AGTCCACCTTGTAGTGGCTCT	0.642000													9	37					0	0	1	0	0
CST8	10047	broad.mit.edu	37	20	23472329	23472329	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr20:23472329C>A	ENST00000246012.1	+	2	382	c.25C>A	c.(25-27)Ctg>Atg	p.L9M		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	9						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GTGGCTCTCCCTGATCCTCCT	0.587000													56	54					1.38909e-20	2.50978e-20	1	1	0
ZNF615	284370	broad.mit.edu	37	19	52496471	52496471	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:52496471C>A	ENST00000602063.1	-	6	2207	c.1858G>T	c.(1858-1860)Gga>Tga	p.G620*	ZNF615_ENST00000594083.1_Nonsense_Mutation_p.G631*|ZNF615_ENST00000391795.3_Nonsense_Mutation_p.G625*|ZNF615_ENST00000376716.5_Nonsense_Mutation_p.G620*|ZNF615_ENST00000598071.1_Nonsense_Mutation_p.G631*			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GGCTTCTCTCCAGTATGAGTT	0.413000													10	66					1.76689e-08	2.42447e-08	1	1	0
CD177	57126	broad.mit.edu	37	19	43866343	43866343	+	RNA	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:43866343G>A	ENST00000378009.4	+	0	1346				CTC-490G23.4_ENST00000607109.1_RNA|CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CGCGTGAGAAGCGTGATGTGC	0.612000													13	76					0	0	1	0	0
TUBB4B	10383	broad.mit.edu	37	9	140137475	140137475	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:140137475G>A	ENST00000340384.4	+	4	953	c.805G>A	c.(805-807)Ggc>Agc	p.G269S		NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN	tubulin, beta 4B class IVb	269					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding										CTTCATGCCCGGCTTTGCCCC	0.637000													11	40					0	0	1	0	0
CFC1	55997	broad.mit.edu	37	2	131356269	131356269	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:131356269C>G	ENST00000259216.4	-	3	455	c.193G>C	c.(193-195)Gcc>Ccc	p.A65P		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	65					determination of left/right symmetry|gastrulation	anchored to membrane|extracellular region|plasma membrane				endometrium(1)|lung(4)	5	Colorectal(110;0.1)					CAGCCCTCGGCGCTCCCAGTC	0.622000													14	101					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72440371	72440371	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:72440371G>T	ENST00000305425.4	-	1	959	c.537C>A	c.(535-537)tcC>tcA	p.S179S	DACH1_ENST00000354591.4_Silent_p.S179S|DACH1_ENST00000313174.7_Silent_p.S179S|DACH1_ENST00000359684.2_Silent_p.S179S	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	177					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTTCCACTGGGGACGGGGTTG	0.607000													5	22					0.000602214	0.000682761	1	1	0
IGLV2-18	28814	broad.mit.edu	37	22	23077405	23077405	+	RNA	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr22:23077405C>A	ENST00000390310.2	+	0	195																											CAGCAGCCCCCAGGCACAGCC	0.582000													42	195					3.76604e-16	6.38466e-16	1	1	0
ZNF135	7694	broad.mit.edu	37	19	58579179	58579179	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:58579179T>A	ENST00000506786.1	+	5	1755	c.1201T>A	c.(1201-1203)Tgt>Agt	p.C401S	ZNF135_ENST00000401053.4_Missense_Mutation_p.C467S|ZNF135_ENST00000439855.2_Missense_Mutation_p.C443S|ZNF135_ENST00000511556.1_Missense_Mutation_p.C455S|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Missense_Mutation_p.C443S			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	455					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ATGCAACGAGTGTGGGAAAAC	0.557000													5	49					0	0	1	0	0
ZBTB26	57684	broad.mit.edu	37	9	125681088	125681088	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:125681088G>A	ENST00000373656.3	-	2	1199	c.1126C>T	c.(1126-1128)Ctg>Ttg	p.L376L	ZBTB26_ENST00000373654.1_Silent_p.L376L	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TTGCCATGCAGCTGTTTAAGG	0.378000													6	38					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200950184	200950184	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:200950184T>A	ENST00000332129.2	-	28	4160	c.3844A>T	c.(3844-3846)Acg>Tcg	p.T1282S	KIF21B_ENST00000461742.2_Missense_Mutation_p.T1295S|KIF21B_ENST00000422435.2_Missense_Mutation_p.T1295S|KIF21B_ENST00000360529.5_Missense_Mutation_p.T1282S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1295					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGTGGGGCCGTCCGTGCACCC	0.617000													14	83					0	0	1	0	0
TRAV20	28663	broad.mit.edu	37	14	22509254	22509254	+	RNA	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:22509254C>A	ENST00000390448.3	+	0	261																											CTGGGAAAGGCCCTGAATTCC	0.478000													8	22					1.06961e-07	1.43088e-07	1	1	0
RYR1	6261	broad.mit.edu	37	19	38946365	38946365	+	Silent	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:38946365C>T	ENST00000355481.4	+	16	1896	c.1765C>T	c.(1765-1767)Ctg>Ttg	p.L589L	RYR1_ENST00000360985.3_Silent_p.L589L|RYR1_ENST00000359596.3_Silent_p.L589L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	589	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CATCTCCCTCCTGGACAAGCA	0.567000													8	37					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113352699	113352699	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:113352699C>G	ENST00000458497.1	+	11	2275	c.1996C>G	c.(1996-1998)Cag>Gag	p.Q666E	ALPK1_ENST00000504176.2_Missense_Mutation_p.Q588E|ALPK1_ENST00000177648.9_Missense_Mutation_p.Q666E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	666							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AAATCAGCCACAGCAACAGAT	0.498000													6	39					0	0	1	0	0
RPS4Y2	140032	broad.mit.edu	37	Y	22921814	22921814	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrY:22921814C>A	ENST00000288666.5	+	3	142	c.142C>A	c.(142-144)Ctc>Atc	p.L48I		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	48	S4 RNA-binding.				translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						GATAGTCTTCCTCAGGAATAG	0.463000													19	24					1.67942e-08	2.31143e-08	1	1	0
TBXA2R	6915	broad.mit.edu	37	19	3600594	3600594	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:3600594C>A	ENST00000375190.4	-	2	432	c.39G>T	c.(37-39)cgG>cgT	p.R13R	TBXA2R_ENST00000411851.3_Silent_p.R13R|TBXA2R_ENST00000589966.1_Silent_p.R13R	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	13					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	TGTTTGTGGGCCGGAAACAGG	0.667000													4	30					3.59834e-05	4.32277e-05	1	1	0
FLII	2314	broad.mit.edu	37	17	18150604	18150604	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:18150604G>C	ENST00000327031.4	-	21	2780	c.2555C>G	c.(2554-2556)gCc>gGc	p.A852G	FLII_ENST00000379450.4_Missense_Mutation_p.A766G|FLII_ENST00000579294.1_Missense_Mutation_p.A841G|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.A797G	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	852					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CTGCAGCACGGCCTCCGCATT	0.592000													13	69					0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172480284	172480284	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:172480284G>T	ENST00000417960.1	+	9	1218	c.741G>T	c.(739-741)ctG>ctT	p.L247L	ECT2_ENST00000441497.2_Silent_p.L248L|ECT2_ENST00000232458.5_Silent_p.L248L|ECT2_ENST00000392692.3_Silent_p.L279L|ECT2_ENST00000540509.1_Silent_p.L279L|ECT2_ENST00000427830.1_Silent_p.L248L	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	248	BRCT 2.				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)			TAAGTTTCCTGGGATTTTCAG	0.308000													6	10					0.0215528	0.0224952	1	1	0
ADRA2B	151	broad.mit.edu	37	2	96781309	96781309	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:96781309G>T	ENST00000409345.3	-	1	675	c.580C>A	c.(580-582)Cgc>Agc	p.R194S		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	194					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	AGGTAGATGCGCAGGTAGACA	0.627000													20	24					5.03518e-11	7.63698e-11	1	1	0
OR4K13	390433	broad.mit.edu	37	14	20502491	20502491	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:20502491C>G	ENST00000315693.2	-	1	428	c.427G>C	c.(427-429)Ggg>Cgg	p.G143R		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G143W(1)		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)		AACAGTAGCCCAGTGAGCACC	0.468000													17	80					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45947289	45947289	+	Silent	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr21:45947289G>C	ENST00000323084.4	-	7	1100	c.1035C>G	c.(1033-1035)gcC>gcG	p.A345A	TSPEAR_ENST00000397916.1_Silent_p.A277A	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	345					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CTTTGCGATTGGCTGTGGCCA	0.557000													32	46					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215824052	215824052	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:215824052G>C	ENST00000366943.2	-	65	14611	c.14225C>G	c.(14224-14226)aCg>aGg	p.T4742R	USH2A_ENST00000307340.3_Missense_Mutation_p.T4742R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4742	Fibronectin type-III 33.				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)		CACATGGAACGTGGGGGCTCT	0.587000										HNSCC(13;0.011)			21	182					0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795580	142795580	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:142795580C>A	ENST00000370498.1	-	2	851	c.98G>T	c.(97-99)aGg>aTg	p.R33M		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	33										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTAAGACCCTGTTCGGTGC	0.398000													32	13					3.99451e-17	6.86178e-17	1	1	0
ZBTB25	7597	broad.mit.edu	37	14	64954061	64954061	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:64954061C>A	ENST00000394715.1	-	6	1589	c.888G>T	c.(886-888)agG>agT	p.R296S	ZBTB25_ENST00000261683.2_Missense_Mutation_p.R296S|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron			P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	296						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		AGGAGCTGAGCCTGCGGCATT	0.507000													15	107					1.52009e-12	2.40615e-12	1	1	0
AOC3	8639	broad.mit.edu	37	17	41004682	41004682	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:41004682G>T	ENST00000308423.2	+	1	1482	c.1322G>T	c.(1321-1323)cGg>cTg	p.R441L		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	441			R -> W (in dbSNP:rs2229596).		amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.R441Q(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CTCCCCCTGCGGCGACACCAC	0.547000													32	33					3.90053e-15	6.49134e-15	1	1	0
ARNTL2	56938	broad.mit.edu	37	12	27571020	27571020	+	Splice_Site	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:27571020G>T	ENST00000544915.1	+	15	1782		c.e15-1		ARNTL2_ENST00000266503.5_Splice_Site|ARNTL2_ENST00000395901.2_Splice_Site|ARNTL2_ENST00000311001.5_Splice_Site|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000542388.1_Splice_Site|ARNTL2_ENST00000546179.1_Intron|ARNTL2_ENST00000261178.5_Splice_Site	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2						circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TGTCTTTTCAGATGTCAAATA	0.383000													7	29					0.000157383	0.000183952	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25318320	25318320	+	RNA	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:25318320T>C	ENST00000549804.2	+	0	817				SNORD116-9_ENST00000384000.1_RNA|SNHG14_ENST00000551077.1_RNA																							TGAGAACTCATACCGTCGTTC	0.443000													14	75					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1629914	1629914	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr20:1629914G>T	ENST00000381580.1	-	2	294	c.115C>A	c.(115-117)Cca>Aca	p.P39T	SIRPG_ENST00000303415.3_Missense_Mutation_p.P72T|SIRPG_ENST00000381583.2_Missense_Mutation_p.P72T|SIRPG_ENST00000216927.4_Missense_Mutation_p.P72T|SIRPG_ENST00000344103.4_Missense_Mutation_p.P72T			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	72	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TCCCGGCCTGGTCCAACTCCT	0.517000													45	38					3.4345e-17	5.91098e-17	1	1	0
PADI6	353238	broad.mit.edu	37	1	17708503	17708503	+	RNA	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:17708503C>A	ENST00000434762.2	+	0	645							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGTCCAAGGCCCCAGCTGTAT	0.498000													13	69					1.5842e-08	2.19035e-08	1	1	0
DSG1	1828	broad.mit.edu	37	18	28934531	28934531	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr18:28934531C>A	ENST00000257192.4	+	15	2584	c.2372C>A	c.(2371-2373)cCc>cAc	p.P791H	DSG1_ENST00000462981.2_Missense_Mutation_p.P150H|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	791					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAAACAGAGCCCGTTGTTAGT	0.502000													29	86					6.38683e-12	9.88542e-12	1	1	0
GCG	2641	broad.mit.edu	37	2	163003954	163003954	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:163003954G>A	ENST00000418842.2	-	3	417	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	GCG_ENST00000375497.3_Nonsense_Mutation_p.Q55*	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	55					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	AATGTGCCCTGTGAATGGCGC	0.483000													21	154					0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10182002	10182002	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:10182002G>A	ENST00000380833.4	+	11	2249	c.1858G>A	c.(1858-1860)Gag>Aag	p.E620K	CLCN4_ENST00000380829.1_Missense_Mutation_p.E589K|CLCN4_ENST00000421085.2_Missense_Mutation_p.E526K	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	620	CBS 1.					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	p.E620K(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CATGACTGTCGAGGACGTGGA	0.632000													9	14					0	0	1	0	0
CMA1	1215	broad.mit.edu	37	14	24974788	24974788	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:24974788G>T	ENST00000250378.3	-	5	707	c.678C>A	c.(676-678)ccC>ccA	p.P226P	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Silent_p.P115P	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	226	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)		AGACAGCAGGGGGCTTTGCAT	0.587000													31	46					1.75199e-13	2.83253e-13	1	1	0
SOX14	8403	broad.mit.edu	37	3	137483965	137483965	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:137483965G>T	ENST00000306087.1	+	1	387	c.339G>T	c.(337-339)ggG>ggT	p.G113G		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	113					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						TGCCCGTGGGGGCCTCCGACG	0.697000													28	48					2.24059e-21	4.08897e-21	1	1	0
SEMA5A	9037	broad.mit.edu	37	5	9054242	9054242	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:9054242C>A	ENST00000382496.5	-	19	3311	c.2646G>T	c.(2644-2646)ggG>ggT	p.G882G		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	882	TSP type-1 6.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTGTGTGCAGCCCCAGGCAGA	0.567000													9	138					0.000274275	0.000315295	1	1	0
SLC17A8	246213	broad.mit.edu	37	12	100797858	100797858	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:100797858G>A	ENST00000323346.5	+	9	1409	c.1096G>A	c.(1096-1098)Gtt>Att	p.V366I	SLC17A8_ENST00000392989.3_Missense_Mutation_p.V316I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	366					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						TATGACAATCGTTGTACCTAT	0.433000													4	26					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55732435	55732435	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:55732435C>A	ENST00000379906.2	+	10	1699	c.1444C>A	c.(1444-1446)Ctt>Att	p.L482I	SLC6A2_ENST00000414754.3_Missense_Mutation_p.L482I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.L377I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.L482I|SLC6A2_ENST00000219833.8_Missense_Mutation_p.L482I|SLC6A2_ENST00000568943.1_Missense_Mutation_p.L482I|SLC6A2_ENST00000566163.1_Missense_Mutation_p.L437I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	482					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CACCTCCATCCTTTTTGCTGT	0.532000													9	52					1.76689e-08	2.42447e-08	1	1	0
OR6T1	219874	broad.mit.edu	37	11	123813821	123813821	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:123813821G>T	ENST00000321252.2	-	1	759	c.725C>A	c.(724-726)gCc>gAc	p.A242D		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AAGATGCGAGGCGCAAGTGGA	0.522000													29	54					3.65163e-15	6.08828e-15	1	1	0
EBF3	253738	broad.mit.edu	37	10	131760458	131760458	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:131760458G>T	ENST00000368648.3	-	4	460	c.388C>A	c.(388-390)Ctc>Atc	p.L130I	EBF3_ENST00000355311.5_Missense_Mutation_p.L130I	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	130					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GAATCTATGAGGCGAACATAC	0.507000													4	35					0.00909568	0.00974	1	1	0
SEMA5A	9037	broad.mit.edu	37	5	9122822	9122822	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:9122822T>A	ENST00000382496.5	-	14	2392	c.1727A>T	c.(1726-1728)cAg>cTg	p.Q576L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	576	TSP type-1 1.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCCACCACACTGCGGGGCCGG	0.632000													14	158					0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20177869	20177869	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:20177869G>A	ENST00000524983.2	-	4	1211	c.923C>T	c.(922-924)cCg>cTg	p.P308L	DBX1_ENST00000227256.3_Missense_Mutation_p.P347L			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	308					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GGGGGGCAGCGGCCCTGGCAG	0.701000													20	80					0	0	1	0	0
RAX2	84839	broad.mit.edu	37	19	3771572	3771572	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:3771572G>T	ENST00000555633.1	-	2	509	c.169C>A	c.(169-171)Cgt>Agt	p.R57S	RAX2_ENST00000555978.1_Missense_Mutation_p.R57S			Q96IS3	RAX2_HUMAN	retina and anterior neural fold homeobox 2	57					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTCCTCACGGCTGTACACA	0.622000													8	14					5.18039e-06	6.4898e-06	1	1	0
PSMC2	5701	broad.mit.edu	37	7	103008398	103008398	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:103008398G>T	ENST00000435765.1	+	13	1610	c.1199G>T	c.(1198-1200)cGg>cTg	p.R400L	PSMC2_ENST00000292644.3_Missense_Mutation_p.R400L|PSMC2_ENST00000544811.1_Missense_Mutation_p.R263L|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	400					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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						ATCAGAGCACGGCGAAAAATT	0.413000													19	20					1.96292e-10	2.93791e-10	1	1	0
COL4A4	1286	broad.mit.edu	37	2	227924193	227924193	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:227924193C>A	ENST00000396625.3	-	28	2518	c.2311G>T	c.(2311-2313)Gga>Tga	p.G771*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.G771*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	771	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCCTCTTTCCCGGGGGTCCC	0.607000													19	98					2.94398e-08	4.02744e-08	1	1	0
NAA30	122830	broad.mit.edu	37	14	57863469	57863469	+	Splice_Site	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:57863469G>T	ENST00000556492.1	+	3	925		c.e3-1		NAA30_ENST00000554703.1_Splice_Site|NAA30_ENST00000555166.1_Splice_Site	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit							cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						TTATTTTTAAGGCCATGGTAG	0.418000													4	47					0.000602214	0.000682761	1	1	0
HERC2	8924	broad.mit.edu	37	15	28510962	28510962	+	Splice_Site	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:28510962C>T	ENST00000261609.7	-	13	1865		c.e13+1			NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCAGACGTACCATGGCCCAG	0.617000													5	51					0	0	1	0	0
GOLM1	51280	broad.mit.edu	37	9	88692462	88692462	+	Silent	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:88692462T>A	ENST00000388712.3	-	3	342	c.174A>T	c.(172-174)gcA>gcT	p.A58A	GOLM1_ENST00000257504.6_5'UTR|GOLM1_ENST00000388711.3_Silent_p.A58A	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	58						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CGCCTCTCTCTGCAGCCGCCC	0.597000													14	85					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169446026	169446026	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:169446026C>A	ENST00000256935.8	+	33	3375	c.3295C>A	c.(3295-3297)Cct>Act	p.P1099T	DOCK2_ENST00000520908.1_Missense_Mutation_p.P591T|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.P160T	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1099	Interaction with CRKL.				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)			GACACTTATCCCTGAGGCTGA	0.423000													36	141					1.96642e-18	3.41675e-18	1	1	0
KCNJ8	3764	broad.mit.edu	37	12	21918784	21918784	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:21918784C>T	ENST00000240662.2	-	3	1493	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	383						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CATGGAGTTGCGCTTCCTCAG	0.458000													12	45					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183676178	183676178	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:183676178T>A	ENST00000511685.1	+	22	4781	c.4658T>A	c.(4657-4659)aTt>aAt	p.I1553N	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.I1553N					teneurin transmembrane protein 3																		GACAATGATATTACTGCTGTG	0.413000													4	29					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86115873	86115873	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:86115873C>A	ENST00000383699.3	+	10	1782	c.1155C>A	c.(1153-1155)gcC>gcA	p.A385A	CADM2_ENST00000407528.2_Silent_p.A416A|CADM2_ENST00000405615.2_Silent_p.A418A	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	416					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.A418A(1)|p.A385A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGATACAGCCATTATCAATG	0.388000													8	34					0.27861	0.280155	1	1	0
FNDC9	408263	broad.mit.edu	37	5	156770407	156770407	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:156770407G>T	ENST00000312349.4	-	2	325	c.138C>A	c.(136-138)taC>taA	p.Y46*	CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000435847.2_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	46	Fibronectin type-III.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GGTGGAAGCTGTAGCGAAGAT	0.537000													21	37					4.96729e-08	6.74451e-08	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141114003	141114003	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:141114003C>A	ENST00000389484.3	-	75	12409	c.11438G>T	c.(11437-11439)gGa>gTa	p.G3813V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3813	EGF-like 8.				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)		TGCATCATCTCCACATGGATT	0.338000										TSP Lung(27;0.18)			18	26					1.33834e-09	1.92373e-09	1	1	0
ABCC4	10257	broad.mit.edu	37	13	95818411	95818411	+	Splice_Site	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:95818411C>A	ENST00000376887.4	-	15	2149		c.e15+1		ABCC4_ENST00000431522.1_Splice_Site|ABCC4_ENST00000412704.1_Splice_Site|ABCC4_ENST00000536256.1_Splice_Site	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4						platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GGTGAACTCACATCTTGGCTC	0.448000													23	28					6.44725e-10	9.52387e-10	1	1	0
KBTBD3	143879	broad.mit.edu	37	11	105925069	105925069	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:105925069T>A	ENST00000526793.1	-	3	506	c.347A>T	c.(346-348)aAa>aTa	p.K116I	KBTBD3_ENST00000531837.1_Missense_Mutation_p.K116I|KBTBD3_ENST00000534815.1_Missense_Mutation_p.K37I	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	112										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ATCTGTTATTTTTGTTTTTCC	0.328000													3	7					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210642138	210642138	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:210642138T>A	ENST00000439458.1	+	4	535	c.455T>A	c.(454-456)gTt>gAt	p.V152D	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.V152D	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	152						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						ATCCACCAGGTTGAAAACCAG	0.547000													15	43					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431865	56431865	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:56431865T>C	ENST00000302969.2	+	1	728	c.704T>C	c.(703-705)cTt>cCt	p.L235P		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GAAGGCCGCCTTAAGGCTTTC	0.488000													6	58					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62049500	62049500	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:62049500C>G	ENST00000578147.1	-	3	554	c.478G>C	c.(478-480)Gtg>Ctg	p.V160L	SCN4A_ENST00000435607.1_Missense_Mutation_p.V160L			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	160					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)	ACTTACTCCACATTCTTGGAC	0.557000													7	8					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113668530	113668530	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:113668530C>T	ENST00000297405.5	-	18	3101	c.2857G>A	c.(2857-2859)Gat>Aat	p.D953N	CSMD3_ENST00000352409.3_Missense_Mutation_p.D953N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D849N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D913N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	953	CUB 5.					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						TTTGGCCCATCATGAACTTCC	0.328000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	19					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35936474	35936474	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:35936474T>A	ENST00000325722.3	-	6	1337	c.1103A>T	c.(1102-1104)aAa>aTa	p.K368I	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	368	PKD 1.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTCGATAGTTTGAGGATCTG	0.413000													29	36					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110592165	110592165	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:110592165C>A	ENST00000399066.3	-	4	1315	c.588G>T	c.(586-588)ccG>ccT	p.P196P	SYBU_ENST00000424158.2_Silent_p.P204P|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000276646.9_Silent_p.P199P|SYBU_ENST00000422135.1_Silent_p.P199P|SYBU_ENST00000419099.1_Silent_p.P198P|SYBU_ENST00000529175.1_5'UTR|SYBU_ENST00000408889.3_Silent_p.P80P|SYBU_ENST00000533065.1_Silent_p.P80P|SYBU_ENST00000440310.1_Silent_p.P199P|SYBU_ENST00000408908.2_Silent_p.P199P|SYBU_ENST00000528331.1_Silent_p.P80P|SYBU_ENST00000533895.1_Silent_p.P198P|SYBU_ENST00000533171.1_Silent_p.P199P|SYBU_ENST00000528647.1_Silent_p.P198P|SYBU_ENST00000446070.2_Silent_p.P198P|SYBU_ENST00000433638.1_Silent_p.P199P|SYBU_ENST00000532779.1_Silent_p.P131P|SYBU_ENST00000529690.1_Silent_p.P69P	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	199	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CCTTTTCCCGCGGGGATGATG	0.507000													17	202					9.16793e-09	1.28125e-08	1	1	0
DEFB118	117285	broad.mit.edu	37	20	29956498	29956498	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr20:29956498C>A	ENST00000253381.2	+	1	78	c.45C>A	c.(43-45)ccC>ccA	p.P15P		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	15					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGCTCCTACCCCAAGTGATCC	0.493000													25	20					1.85244e-09	2.6501e-09	1	1	0
DDX26B	203522	broad.mit.edu	37	X	134681065	134681065	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:134681065G>C	ENST00000370752.4	+	6	951	c.617G>C	c.(616-618)cGc>cCc	p.R206P	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	206	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GGGATAGGTCGCTCCTACTGT	0.279000													10	36					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754985	76754985	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr18:76754985C>G	ENST00000537592.2	+	2	2994	c.2994C>G	c.(2992-2994)agC>agG	p.S998R	SALL3_ENST00000536229.3_Intron|SALL3_ENST00000575389.2_Intron	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	998					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)		ACTACCGCAGCCATACTAAGG	0.542000													20	34					0	0	1	0	0
HLA-DRB6	3128	broad.mit.edu	37	6	32522722	32522722	+	RNA	SNP	C	C	A	rs114905475	by1000genomes	TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:32522722C>A	ENST00000411500.1	-	0	484					NR_001298.1																						TGGGTCTTTGCAGGATACACA	0.488000													6	8					0.0293803	0.0305596	1	1	0
F5	2153	broad.mit.edu	37	1	169495179	169495179	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:169495179C>A	ENST00000367796.3	-	18	5892	c.5691G>T	c.(5689-5691)caG>caT	p.Q1897H	F5_ENST00000367797.3_Missense_Mutation_p.Q1892H			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1892	F5/8 type A 3.|Plastocyanin-like 6.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCCCTGCTCTCTGGTTTTCTC	0.398000													64	57					1.84395e-34	3.63579e-34	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43840455	43840455	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:43840455C>A	ENST00000389420.3	-	15	2139	c.2140G>T	c.(2140-2142)Ggt>Tgt	p.G714C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G714C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	714	Cys-rich.					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)		TTGTCCCCACCACACACTCCA	0.368000													3	20					0.004672	0.00506878	1	1	0
PALD1	27143	broad.mit.edu	37	10	72326463	72326463	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:72326463C>G	ENST00000263563.6	+	20	2813	c.2545C>G	c.(2545-2547)Ccc>Gcc	p.P849A		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CAGCCTCGAGCCCTCTGCCCC	0.687000													3	9					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48275550	48275550	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:48275550C>T	ENST00000225964.5	-	7	678	c.560G>A	c.(559-561)cGt>cAt	p.R187H		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	187	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AGGGAGACCACGAGGACCAGA	0.557000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta				OREG0024560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	95					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176083	140176083	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:140176083G>C	ENST00000526136.1	+	1	1534	c.1534G>C	c.(1534-1536)Gcg>Ccg	p.A512P	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A512P|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A512P	NM_018905.2	NP_061728.1												p.A512T(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGGTGCACGCGGAGAGCGG	0.697000													47	72					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228240	140228240	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:140228240C>A	ENST00000378122.3	+	1	884	c.160C>A	c.(160-162)Ctg>Atg	p.L54M	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.L54M|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_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)			GGACCTGGGGCTGGAGCTGGC	0.632000													61	95					3.30226e-22	6.1001e-22	1	1	0
IGHV2-70	28454	broad.mit.edu	37	14	107179100	107179100	+	RNA	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:107179100G>T	ENST00000390634.2	-	0	152																											CGCAGGACCAGACTCCCTCAA	0.507000													11	61					3.07112e-06	3.89037e-06	1	1	0
PLVAP	83483	broad.mit.edu	37	19	17476197	17476197	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:17476197G>T	ENST00000252590.4	-	3	1138	c.1077C>A	c.(1075-1077)gaC>gaA	p.D359E		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	359						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGCCAGGTTGTCTCGTTCCT	0.617000													41	66					2.26627e-22	4.22945e-22	1	1	0
ZNF716	441234	broad.mit.edu	37	7	57522779	57522779	+	Splice_Site	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:57522779G>T	ENST00000420713.1	+	3	279	c.166_splice	c.e3-1	p.G56_splice		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AATAAAACAGGTATTGCTGTC	0.348000													12	53					3.03607e-14	4.99767e-14	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134071765	134071765	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:134071765G>A	ENST00000264360.4	+	1	1296	c.470G>A	c.(469-471)cGc>cAc	p.R157H		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	157	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AACTCCTTGCGCGACTACGAG	0.622000													27	48					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3591883	3591883	+	RNA	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:3591883G>T	ENST00000301749.7	-	0	3545				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_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						GATCATCCTGGCCCCGGAGTC	0.532000													9	13					0.000442599	0.000506866	1	1	0
SNAPC4	6621	broad.mit.edu	37	9	139291435	139291435	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:139291435C>A	ENST00000298532.2	-	2	539	c.171G>T	c.(169-171)ccG>ccT	p.P57P		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	57					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TTACCGAGATCGGGGGATCGG	0.587000													9	49					1.12685e-05	1.39625e-05	1	1	0
MARK1	4139	broad.mit.edu	37	1	220752824	220752824	+	Silent	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:220752824C>T	ENST00000366918.4	+	2	777	c.180C>T	c.(178-180)taC>taT	p.Y60Y	MARK1_ENST00000472121.1_3'UTR|MARK1_ENST00000366917.4_Silent_p.Y60Y|MARK1_ENST00000402574.1_5'UTR			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	60	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTGGAAATTACCGTTTACAAA	0.428000													7	52					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38275833	38275833	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:38275833C>A	ENST00000341462.5	-	10	2284	c.1343G>T	c.(1342-1344)cGg>cTg	p.R448L	FGFR1_ENST00000326324.6_Missense_Mutation_p.R357L|FGFR1_ENST00000425967.3_Missense_Mutation_p.R479L|FGFR1_ENST00000397103.1_Missense_Mutation_p.R359L|FGFR1_ENST00000397108.4_Missense_Mutation_p.R446L|FGFR1_ENST00000356207.5_Missense_Mutation_p.R359L|FGFR1_ENST00000397113.2_Missense_Mutation_p.R446L|FGFR1_ENST00000532791.1_Missense_Mutation_p.R446L|FGFR1_ENST00000447712.2_Missense_Mutation_p.R448L|FGFR1_ENST00000335922.5_Missense_Mutation_p.R438L|FGFR1_ENST00000397091.5_Missense_Mutation_p.R446L			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	448					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)	GGAGGAGAGCCGTGATGGCCG	0.577000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						5	25					0.014758	0.0155645	1	1	0
SFPQ	6421	broad.mit.edu	37	1	35652667	35652667	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:35652667C>A	ENST00000357214.5	-	9	2019	c.1921G>T	c.(1921-1923)Ggt>Tgt	p.G641C		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	641	Poly-Gly.				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GCTTCATAACCTATGCCACCA	0.463000			T	TFE3	papillary renal cell								11	55					3.86212e-05	4.6213e-05	1	1	0
MIR520G	574484	broad.mit.edu	37	19	54225466	54225466	+	RNA	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:54225466G>C	ENST00000385064.1	+	0	47					NR_030206.1																						TTTGTTGTCTGAGAAAAAACA	0.413000													5	35					0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	192078251	192078251	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:192078251G>T	ENST00000454309.2	-	2	1101	c.276C>A	c.(274-276)acC>acA	p.T92T	FGF12_ENST00000445105.1_Silent_p.T30T|FGF12_ENST00000430714.1_Intron|FGF12_ENST00000264730.3_Silent_p.T30T|FGF12_ENST00000450716.1_Silent_p.T30T	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	92					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TCCCATCAATGGTACCATCTG	0.413000													9	45					7.48243e-07	9.73682e-07	1	1	0
INSRR	3645	broad.mit.edu	37	1	156814032	156814032	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:156814032G>A	ENST00000368195.3	-	15	3174	c.2778C>T	c.(2776-2778)gcC>gcT	p.A926A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	926					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCACAGGGGTGGCAGTGAGGA	0.577000													15	47					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26743881	26743881	+	Splice_Site	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr22:26743881T>A	ENST00000529632.2	+	11	2603		c.e11+2		SEZ6L_ENST00000404234.3_Splice_Site|SEZ6L_ENST00000343706.4_Splice_Site|SEZ6L_ENST00000402979.1_Splice_Site|SEZ6L_ENST00000248933.6_Splice_Site|SEZ6L_ENST00000403121.1_Splice_Site|SEZ6L_ENST00000360929.3_Splice_Site|SEZ6L_ENST00000411842.2_Splice_Site	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like							endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GTGAGAAAAGTAAGAGTGGTC	0.532000													7	40					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111758262	111758262	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:111758262G>T	ENST00000261726.6	+	17	2603	c.2449G>T	c.(2449-2451)Ggc>Tgc	p.G817C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	817						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						TGGCTACTCTGGCCAGCCCAA	0.756000													23	32					4.26978e-12	6.61998e-12	1	1	0
TXNDC16	57544	broad.mit.edu	37	14	52906069	52906069	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:52906069C>G	ENST00000281741.4	-	20	2418	c.2047G>C	c.(2047-2049)Gat>Cat	p.D683H	TXNDC16_ENST00000554399.1_5'UTR	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	683					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GGCAGAGGATCAAAATATGCC	0.383000													6	12					0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21636328	21636328	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:21636328C>A	ENST00000444129.2	-	6	1150	c.682G>T	c.(682-684)Gga>Tga	p.G228*	RECQL_ENST00000421138.2_Nonsense_Mutation_p.G228*	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	228	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						AAATCATGTCCCCACTGACTA	0.398000								Other identified genes with known or suspected DNA repair function					4	15					0.000602214	0.000682761	1	1	0
OR14A16	284532	broad.mit.edu	37	1	247978213	247978213	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:247978213C>A	ENST00000357627.1	-	1	818	c.819G>T	c.(817-819)gtG>gtT	p.V273V		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TAGTGTAGAACACAGAAATTA	0.418000													5	38					0.000602214	0.000682761	1	1	0
KIF19	124602	broad.mit.edu	37	17	72350577	72350577	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:72350577G>T	ENST00000389916.4	+	18	2723	c.2585G>T	c.(2584-2586)gGg>gTg	p.G862V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	862					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GGACATCATGGGGACGGCCCC	0.662000													13	9					7.03913e-09	9.86783e-09	1	1	0
PKP2	5318	broad.mit.edu	37	12	33031066	33031066	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:33031066G>C	ENST00000340811.4	-	3	856	c.748C>G	c.(748-750)Cgc>Ggc	p.R250G	PKP2_ENST00000070846.6_Missense_Mutation_p.R250G	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	250					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)					CCCATGCTGCGGCTGGTCCCT	0.622000													13	31					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6942351	6942351	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:6942351A>T	ENST00000317834.3	+	1	147	c.119A>T	c.(118-120)cAg>cTg	p.Q40L		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTGCAGACCCAGATCCTGCTA	0.433000													13	41					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52469754	52469754	+	Silent	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:52469754T>C	ENST00000231721.2	-	16	2213	c.2214A>G	c.(2212-2214)tcA>tcG	p.S738S		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	738					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GGAAGCAGCCTGAGCATTCCG	0.652000													37	67					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126134612	126134612	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:126134612G>T	ENST00000373631.3	+	9	2594	c.2593G>T	c.(2593-2595)Ggc>Tgc	p.G865C	CRB2_ENST00000359999.3_Missense_Mutation_p.G865C|CRB2_ENST00000373629.2_Missense_Mutation_p.G533C	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	865						extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGTCCCTGATGGCTTTGTGTG	0.607000													16	57					0.00074312	0.000840411	1	1	0
RBM41	55285	broad.mit.edu	37	X	106310785	106310785	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:106310785C>T	ENST00000372479.3	-	7	1244	c.1214G>A	c.(1213-1215)gGt>gAt	p.G405D	RBM41_ENST00000372487.1_Splice_Site	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	405							nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TGTAGTGCTACCTGTAGCACA	0.368000													7	25					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28543233	28543233	+	Splice_Site	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:28543233A>G	ENST00000401766.2	-	6	1351	c.837_splice	c.e6-1	p.V280_splice	SLC6A4_ENST00000261707.3_Splice_Site_p.V280_splice			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	280					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CACCCACACCACCTGTAAGGA	0.612000													10	28					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736162	12736162	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:12736162A>C	ENST00000380682.1	+	16	3723	c.3217A>C	c.(3217-3219)Agt>Cgt	p.S1073R		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1073					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTCACGAGACAGTCAACACCT	0.488000													9	19					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640163	7640163	+	Silent	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:7640163T>A	ENST00000359156.4	-	8	2044	c.1842A>T	c.(1840-1842)atA>atT	p.I614I	CD163_ENST00000541972.1_Silent_p.I602I|CD163_ENST00000396620.3_Silent_p.I647I|CD163_ENST00000432237.2_Silent_p.I614I	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	614	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						GGGCATCTTCTATGTCCCAGT	0.522000													22	47					0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160709092	160709092	+	Translation_Start_Site	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:160709092A>T	ENST00000368043.3	+	1	38	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	SLAMF7_ENST00000444090.2_Start_Codon_SNP_p.M1L|SLAMF7_ENST00000441662.2_Start_Codon_SNP_p.M1L|SLAMF7_ENST00000458104.2_Start_Codon_SNP_p.M1L|SLAMF7_ENST00000458602.2_Start_Codon_SNP_p.M1L|SLAMF7_ENST00000488819.1_3'UTR|SLAMF7_ENST00000368042.3_Start_Codon_SNP_p.M1L|SLAMF7_ENST00000359331.4_Start_Codon_SNP_p.M1L	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	1					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGAGAGCAATATGGCTGGTTC	0.512000													15	82					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26890001	26890001	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:26890001G>C	ENST00000231021.4	-	9	1628	c.1456C>G	c.(1456-1458)Ccg>Gcg	p.P486A		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	486	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCAAATTCCGGAGCATGGTCA	0.333000													19	92					0	0	1	0	0
MESDC1	59274	broad.mit.edu	37	15	81295678	81295678	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:81295678G>T	ENST00000267984.2	+	1	2384	c.1066G>T	c.(1066-1068)Gtg>Ttg	p.V356L		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	356										endometrium(1)|lung(2)	3						TTTACCGCCAGTGAATTCCAA	0.547000													6	15					0.00116845	0.00130515	1	1	0
FAM120AOS	158293	broad.mit.edu	37	9	96212848	96212848	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:96212848C>A	ENST00000375412.5	-	2	1479	c.597G>T	c.(595-597)caG>caT	p.Q199H	FAM120AOS_ENST00000423591.1_Missense_Mutation_p.Q17H|FAM120AOS_ENST00000479094.1_5'UTR	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	199										kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						CGGCCACAGCCTGTCGGTTGC	0.507000													19	36					3.32936e-07	4.38914e-07	1	1	0
LILRA5	353514	broad.mit.edu	37	19	54822753	54822753	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:54822753A>G	ENST00000301219.3	-	5	762	c.643T>C	c.(643-645)Tat>Cat	p.Y215H	LILRA5_ENST00000346508.3_Missense_Mutation_p.Y203H|LILRA5_ENST00000432233.3_Missense_Mutation_p.Y215H|LILRA5_ENST00000446712.3_Missense_Mutation_p.Y203H|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	215	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CGAGAGCCATAGCATCTGAGC	0.587000													9	60					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35186367	35186367	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr21:35186367G>T	ENST00000381318.3	+	22	3006	c.2718G>T	c.(2716-2718)gtG>gtT	p.V906V	ITSN1_ENST00000399326.3_Silent_p.V901V|ITSN1_ENST00000437442.2_Silent_p.V901V|ITSN1_ENST00000399367.3_Silent_p.V901V|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Silent_p.V906V|ITSN1_ENST00000381285.4_Silent_p.V906V|ITSN1_ENST00000379960.5_Silent_p.V901V|ITSN1_ENST00000399349.1_Silent_p.V901V|ITSN1_ENST00000399352.1_Silent_p.V901V|ITSN1_ENST00000399353.1_Silent_p.V864V|ITSN1_ENST00000399355.2_Silent_p.V906V|ITSN1_ENST00000399338.4_Silent_p.V901V	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	906					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CGTCTCCTGTGCTAGGCCAGG	0.552000													5	34					4.096e-09	5.8048e-09	1	1	0
SSX7	280658	broad.mit.edu	37	X	52682023	52682023	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:52682023A>T	ENST00000298181.5	-	3	239	c.81T>A	c.(79-81)gaT>gaA	p.D27E		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	27	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					ATTTGGCAATATCATCGAAGG	0.408000													9	12					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256708	63256708	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:63256708G>T	ENST00000323865.3	-	1	1072	c.839C>A	c.(838-840)gCg>gAg	p.A280E	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	280					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TTGCCTCACCGCGCCATTGGC	0.657000													13	109					2.68362e-12	4.21115e-12	1	1	0
PSG2	5670	broad.mit.edu	37	19	43579571	43579571	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:43579571T>G	ENST00000406487.1	-	3	742	c.644A>C	c.(643-645)tAt>tCt	p.Y215S		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	215	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TTCACATTCATAGGGTCCTGC	0.507000													39	216					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184690	72184690	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:72184690C>G	ENST00000537465.1	-	5	611	c.453G>C	c.(451-453)gaG>gaC	p.E151D	PMFBP1_ENST00000237353.10_Missense_Mutation_p.E151D|PMFBP1_ENST00000355636.6_Missense_Mutation_p.E6D			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	151										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)				CCCCTGTGTTCTCGTTGTGAT	0.498000													11	92					0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166788355	166788355	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:166788355C>A	ENST00000243344.7	-	8	944	c.807G>T	c.(805-807)aaG>aaT	p.K269N		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	269						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						AGTTTTCCAGCTTGGTGGAAG	0.373000													14	28					4.3838e-07	5.73753e-07	1	1	0
PKN1	5585	broad.mit.edu	37	19	14574749	14574749	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:14574749G>T	ENST00000242783.6	+	11	1770	c.1605G>T	c.(1603-1605)ggG>ggT	p.G535G	PKN1_ENST00000342216.4_Silent_p.G541G	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	535					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TTAGCCCTGGGGCTTCTCCAG	0.667000													22	35					7.45023e-12	1.15117e-11	1	1	0
HTR1A	3350	broad.mit.edu	37	5	63256541	63256541	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:63256541C>G	ENST00000323865.3	-	1	1239	c.1006G>C	c.(1006-1008)Gcc>Ccc	p.A336P	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	336					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CGGGCCAGGGCCATCTTGCGC	0.607000													75	108					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152185596	152185596	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:152185596G>A	ENST00000368801.2	-	3	8584	c.8509C>T	c.(8509-8511)Ccc>Tcc	p.P2837S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2837					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)			TATTCATAGGGTGAAGTGCTA	0.378000													8	73					0	0	1	0	0
NFKBIB	4793	broad.mit.edu	37	19	39395971	39395971	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:39395971G>C	ENST00000392079.3	+	3	417	c.319G>C	c.(319-321)Gca>Cca	p.A107P	NFKBIB_ENST00000313582.5_Missense_Mutation_p.A139P|NFKBIB_ENST00000572515.1_Missense_Mutation_p.A139P			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	139					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CCGTGTGGGGGCACACGCCTG	0.726000													15	66					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191728	152191728	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:152191728G>T	ENST00000368801.2	-	3	2452	c.2377C>A	c.(2377-2379)Caa>Aaa	p.Q793K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	793					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)			GACCCGTGTTGGCCGTGGCTG	0.597000													7	102					0.307466	0.308486	1	1	0
MATN2	4147	broad.mit.edu	37	8	98943627	98943627	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:98943627G>T	ENST00000254898.5	+	3	820	c.589G>T	c.(589-591)Ggc>Tgc	p.G197C	MATN2_ENST00000524308.1_Missense_Mutation_p.G197C|MATN2_ENST00000520016.1_Missense_Mutation_p.G197C|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.G197C	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	197	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CATTGGTGTGGGCCAGGTAGA	0.552000													10	56					2.17888e-05	2.64912e-05	1	1	0
MYBPC1	4604	broad.mit.edu	37	12	102010991	102010991	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:102010991G>C	ENST00000549145.1	+	3	173	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	MYBPC1_ENST00000547509.1_Intron|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E25Q|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E13Q|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E25Q|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E25Q|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E25Q|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E25Q|MYBPC1_ENST00000392934.3_Intron|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E25Q|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E25Q|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E25Q|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E25Q			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	25					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACCAAGTAAAGAGAAGGAGGC	0.433000													4	8					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27269912	27269912	+	Silent	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr21:27269912T>A	ENST00000358918.3	-	15	2182	c.1983A>T	c.(1981-1983)tcA>tcT	p.S661S	APP_ENST00000440126.3_Silent_p.S655S|APP_ENST00000354192.3_Silent_p.S548S|APP_ENST00000448388.2_Silent_p.S569S|APP_ENST00000359726.3_Silent_p.S623S|APP_ENST00000439274.2_Silent_p.S623S|APP_ENST00000357903.3_Silent_p.S660S|APP_ENST00000348990.5_Silent_p.S604S|APP_ENST00000346798.3_Silent_p.S679S	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	679					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CTTCATATCCTGAGTCATGTC	0.373000													14	45					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84569449	84569449	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:84569449A>T	ENST00000262753.4	-	9	1091	c.946T>A	c.(946-948)Tac>Aac	p.Y316N	POF1B_ENST00000373145.3_Missense_Mutation_p.Y316N	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	316							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TGCAGAATGTAGCGTATTTGC	0.388000													4	4					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28959060	28959060	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:28959060G>T	ENST00000282397.4	-	14	2329	c.2078C>A	c.(2077-2079)aCt>aAt	p.T693N	FLT1_ENST00000541932.1_Missense_Mutation_p.T693N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	693	Ig-like C2-type 7.				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			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)	TTTAAACCAAGTGATCTGAGG	0.443000													13	72					0.000151284	0.000178433	1	1	0
FGF5	2250	broad.mit.edu	37	4	81207592	81207592	+	Silent	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:81207592C>T	ENST00000312465.7	+	3	799	c.573C>T	c.(571-573)gcC>gcT	p.A191A	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	191					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GGTATGTGGCCCTGAATAAAA	0.473000													18	63					0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35928725	35928725	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:35928725C>A	ENST00000374694.1	-	1	1637	c.1633G>T	c.(1633-1635)Gcg>Tcg	p.A545S		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	545					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						ACCACCACCGCGGCGGGCACG	0.677000													27	53					2.44723e-14	4.03571e-14	1	1	0
XBP1	7494	broad.mit.edu	37	22	29191682	29191682	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr22:29191682T>A	ENST00000216037.6	-	5	710	c.638A>T	c.(637-639)cAg>cTg	p.Q213L	XBP1_ENST00000403532.3_Missense_Mutation_p.Q218L|XBP1_ENST00000405219.3_Missense_Mutation_p.Q163L|XBP1_ENST00000344347.5_Silent_p.P204P	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	213					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						AGAACATGACTGGGTCCAAGT	0.483000													21	42					0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149314247	149314247	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:149314247G>C	ENST00000255266.5	-	2	628	c.509C>G	c.(508-510)aCa>aGa	p.T170R		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	170	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTTGTACTCTGTGAGGATGTC	0.473000													7	15					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7608354	7608354	+	Silent	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:7608354T>C	ENST00000256861.6	-	13	2244	c.2166A>G	c.(2164-2166)ggA>ggG	p.G722G	ITIH5_ENST00000446830.2_Silent_p.G504G|ITIH5_ENST00000298441.6_Silent_p.G508G|ITIH5_ENST00000397146.2_Intron	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	722					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAATTAACTCTCCGTTCACTG	0.502000													15	21					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87235241	87235241	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:87235241G>A	ENST00000297524.3	-	2	880	c.777C>T	c.(775-777)tcC>tcT	p.S259S	SLC7A13_ENST00000419776.2_Silent_p.S250S|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	259						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CAGTCAGATAGGAAATGTTAA	0.398000													7	67					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70505211	70505211	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:70505211G>T	ENST00000310961.5	+	22	4023	c.3605G>T	c.(3604-3606)aGg>aTg	p.R1202M	LRRC7_ENST00000415775.2_Missense_Mutation_p.R481M|LRRC7_ENST00000035383.5_Missense_Mutation_p.R1197M			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1197						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTTACCCAAAGGAGGCCATTG	0.473000													5	37					0.184627	0.187312	1	1	0
ACTL9	284382	broad.mit.edu	37	19	8808328	8808328	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:8808328G>A	ENST00000324436.3	-	1	844	c.724C>T	c.(724-726)Ccc>Tcc	p.P242S		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	242						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TGTCCCAGGGGCAGGCCGGCC	0.652000													7	47					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32841351	32841351	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:32841351T>C	ENST00000380250.3	+	55	8487	c.7991T>C	c.(7990-7992)tTc>tCc	p.F2664S	FRY_ENST00000542859.1_Missense_Mutation_p.F34S	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCCTCGCCCTTCTTCTCAGCC	0.547000													21	101					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	124097622	124097622	+	Translation_Start_Site	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:124097622G>T	ENST00000422452.2	-	0	44				TENM1_ENST00000371130.3_De_novo_Start_OutOfFrame	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AGCAAGCTCAGTTTCATGAAA	0.403000													24	17					2.39556e-15	4.00881e-15	1	1	0
KCNJ8	3764	broad.mit.edu	37	12	21919014	21919014	+	Silent	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:21919014G>C	ENST00000240662.2	-	3	1263	c.918C>G	c.(916-918)acC>acG	p.T306T	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	306						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GTGCTTGTGTGGTGATGCCAG	0.498000													10	43					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30915912	30915912	+	Silent	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:30915912A>G	ENST00000597505.1	-	33	4775	c.4776T>C	c.(4774-4776)tgT>tgC	p.C1592C	DCDC1_ENST00000406071.2_Silent_p.C330C			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)					TGGCTGGCTGACATGCCGCTA	0.478000													4	43					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67075183	67075183	+	Missense_Mutation	SNP	C	C	T	rs149465975		TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:67075183C>T	ENST00000308127.4	+	7	944	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	SSH3_ENST00000376757.5_Missense_Mutation_p.R256W|SSH3_ENST00000308298.7_Missense_Mutation_p.R256W|SSH3_ENST00000532181.1_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	256					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGAGTCTCTGCGGCCTCCCAG	0.652000													6	52					0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26586887	26586887	+	Silent	SNP	T	T	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:26586887T>G	ENST00000436318.2	-	2	733	c.600A>C	c.(598-600)tcA>tcC	p.S200S	ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Silent_p.S200S|MUC15_ENST00000527569.1_Silent_p.S200S|MUC15_ENST00000529533.1_Silent_p.S200S|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000455601.2_Silent_p.S173S			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	173						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AAGTTGGTTCTGAAGAGAGGA	0.443000													14	39					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76067911	76067911	+	RNA	SNP	A	A	G	rs12101948	by1000genomes	TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:76067911A>G	ENST00000395215.3	+	0	18																											CAGGTGCCTGATACGTGACTG	0.547000													4	26					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49731019	49731019	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:49731019C>A	ENST00000451037.2	-	5	1484	c.544G>T	c.(544-546)Gtt>Ttt	p.V182F	CA10_ENST00000570565.1_Missense_Mutation_p.V107F|CA10_ENST00000285273.4_Missense_Mutation_p.V182F|CA10_ENST00000442502.2_Missense_Mutation_p.V182F|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000340813.6_Missense_Mutation_p.V188F	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	182					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			AATATAGAAACTACCACCAAT	0.408000													13	23					0.00136819	0.00152451	1	1	0
KLF17	128209	broad.mit.edu	37	1	44595232	44595232	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:44595232G>T	ENST00000372299.3	+	2	347	c.289G>T	c.(289-291)Ggt>Tgt	p.G97C	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	97					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)					GCCTGAGCGTGGTATGAGCTA	0.572000													45	68					2.77807e-22	5.16334e-22	1	1	0
HCN1	348980	broad.mit.edu	37	5	45262750	45262750	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:45262750G>T	ENST00000303230.4	-	8	2003	c.1946C>A	c.(1945-1947)tCc>tAc	p.S649Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	649						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGACGATGTGGAATTCAGGGT	0.522000													59	54					1.4709e-25	2.80274e-25	1	1	0
GCSAML	148823	broad.mit.edu	37	1	247712502	247712502	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:247712502T>A	ENST00000366491.2	+	4	506	c.9T>A	c.(7-9)aaT>aaA	p.N3K	GCSAML_ENST00000536561.1_Missense_Mutation_p.N3K|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366488.4_Missense_Mutation_p.N3K|GCSAML_ENST00000366490.3_Missense_Mutation_p.I124N|GCSAML_ENST00000366489.1_Missense_Mutation_p.N3K					germinal center-associated, signaling and motility-like									p.N3K(1)									AGATGGGAAATTATCTCCTGC	0.468000													6	47					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33952569	33952569	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:33952569G>T	ENST00000389232.4	+	34	4637	c.4567G>T	c.(4567-4569)Gtg>Ttg	p.V1523L	RYR3_ENST00000415757.3_Missense_Mutation_p.V1523L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1523	4 X approximate repeats.				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)		CGGCTGGGTGGTGCAGTGCCT	0.672000													2	2					0.0784	0.0805309	1	1	0
OR2L3	391192	broad.mit.edu	37	1	248224267	248224267	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:248224267G>T	ENST00000359959.3	+	1	284	c.284G>T	c.(283-285)gGg>gTg	p.G95V	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	95					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)			TCCTTCACTGGGTGTGGGATT	0.433000													33	191					1.69901e-12	2.68001e-12	1	1	0
IFNA16	3449	broad.mit.edu	37	9	21216800	21216800	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:21216800C>A	ENST00000380216.1	-	1	510	c.505G>T	c.(505-507)Gca>Tca	p.A169S		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	169					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATGATTTCTGCTCTGACAACC	0.398000													12	139					0.0135373	0.0144451	1	1	0
FRMPD4	9758	broad.mit.edu	37	X	12736161	12736161	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:12736161C>A	ENST00000380682.1	+	16	3722	c.3216C>A	c.(3214-3216)gaC>gaA	p.D1072E		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1072					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CTTCACGAGACAGTCAACACC	0.488000													10	19					7.48243e-07	9.73682e-07	1	1	0
ZBBX	79740	broad.mit.edu	37	3	167039983	167039983	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:167039983C>A	ENST00000392766.2	-	12	1245	c.905G>T	c.(904-906)tGg>tTg	p.W302L	ZBBX_ENST00000392764.1_Missense_Mutation_p.W273L|ZBBX_ENST00000307529.5_Missense_Mutation_p.W302L|ZBBX_ENST00000455345.2_Missense_Mutation_p.W302L|ZBBX_ENST00000392767.2_Missense_Mutation_p.W302L|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	302						intracellular	zinc ion binding	p.W302*(2)		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						TGGTTCTCTCCAAATTTTCAG	0.274000													3	22					0.115264	0.117598	1	1	0
CCDC64	92558	broad.mit.edu	37	12	120502619	120502619	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:120502619C>T	ENST00000397558.2	+	4	845	c.845C>T	c.(844-846)aCc>aTc	p.T282I	CCDC64_ENST00000446727.2_Missense_Mutation_p.T26I	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	282					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCAAGGGACCGTGGAGGAG	0.562000													18	94					0	0	1	0	0
SLC10A4	201780	broad.mit.edu	37	4	48486985	48486985	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:48486985C>A	ENST00000273861.4	+	2	846	c.627C>A	c.(625-627)ctC>ctA	p.L209L		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	209						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						TTCTGGCCCTCGTCTTGATGC	0.527000													22	136					1.22574e-08	1.70513e-08	1	1	0
GFRA3	2676	broad.mit.edu	37	5	137589034	137589034	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:137589034T>C	ENST00000274721.3	-	7	1301	c.1055A>G	c.(1054-1056)cAc>cGc	p.H352R	GFRA3_ENST00000378362.3_Missense_Mutation_p.H321R	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	352					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGTTGGCTGTGAAAACGCAT	0.562000													6	5					0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104192196	104192196	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:104192196G>T	ENST00000374855.4	-	3	289	c.165C>A	c.(163-165)aaC>aaA	p.N55K	ALDOB_ENST00000468981.2_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	55					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ACTGCCGGCGGTTCTCTTCAG	0.557000													16	47					2.23348e-06	2.8532e-06	1	1	0
METTL22	79091	broad.mit.edu	37	16	8738460	8738460	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:8738460G>T	ENST00000381920.3	+	10	1315	c.1057G>T	c.(1057-1059)Gat>Tat	p.D353Y	METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Missense_Mutation_p.D297Y	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	353							methyltransferase activity			large_intestine(5)|lung(4)	9						TGAAGCCTACGATCACTTCCG	0.582000													34	199					1.57351e-24	2.97949e-24	1	1	0
CDC25C	995	broad.mit.edu	37	5	137626352	137626352	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:137626352C>A	ENST00000323760.6	-	9	1118	c.840G>T	c.(838-840)ggG>ggT	p.G280G	CDC25C_ENST00000357274.3_Silent_p.G237G|CDC25C_ENST00000356505.3_Silent_p.G250G|CDC25C_ENST00000348983.3_Silent_p.G207G|CDC25C_ENST00000514555.1_Silent_p.G250G|CDC25C_ENST00000513970.1_Silent_p.G280G|CDC25C_ENST00000415130.2_Silent_p.G207G	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	280					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAATCAGGTGCCCCTGGTTAG	0.443000													14	26					1.49906e-05	1.83736e-05	1	1	0
FAT3	120114	broad.mit.edu	37	11	92086881	92086881	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:92086881G>C	ENST00000298047.6	+	1	1620	c.1603G>C	c.(1603-1605)Gat>Cat	p.D535H	FAT3_ENST00000409404.2_Missense_Mutation_p.D535H|FAT3_ENST00000541502.1_Missense_Mutation_p.D535H|FAT3_ENST00000525166.1_Missense_Mutation_p.D385H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	535	Cadherin 5.				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)				TGAAGAACTGGATTTTGAATC	0.398000										TCGA Ovarian(4;0.039)			22	38					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14481707	14481707	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:14481707G>T	ENST00000344204.4	+	45	6469	c.6445G>T	c.(6445-6447)Ggg>Tgg	p.G2149W	TRIO_ENST00000537187.1_Missense_Mutation_p.G2149W	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2149					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GATGAACGTGGGGCGGCTGCA	0.488000													15	160					2.61681e-11	3.98899e-11	1	1	0
BAIAP3	8938	broad.mit.edu	37	16	1396881	1396881	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:1396881G>T	ENST00000324385.5	+	28	2939	c.2781G>T	c.(2779-2781)caG>caT	p.Q927H	BAIAP3_ENST00000397489.1_Missense_Mutation_p.Q909H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.Q892H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.Q864H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.Q869H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.Q856H|BAIAP3_ENST00000564213.1_Intron|BAIAP3_ENST00000397488.2_Missense_Mutation_p.Q909H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	927	MHD2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TACTCCTCCAGGCCATTCTGC	0.637000													5	12					0.014758	0.0155645	1	1	0
OR7A10	390892	broad.mit.edu	37	19	14952633	14952633	+	Silent	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:14952633C>T	ENST00000248058.1	-	1	56	c.57G>A	c.(55-57)gaG>gaA	p.E19E		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E19E(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					ATTCTGGTTCCTCTGAAATTC	0.458000													7	58					0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22313089	22313089	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:22313089C>A	ENST00000337107.6	+	7	727	c.708C>A	c.(706-708)acC>acA	p.T236T	CELA3B_ENST00000473526.1_3'UTR	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	236	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						ATGGCGTGACCAGCTTTGTTT	0.607000													13	44					4.3838e-07	5.73753e-07	1	1	0
DSG1	1828	broad.mit.edu	37	18	28934532	28934532	+	Silent	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr18:28934532C>T	ENST00000257192.4	+	15	2585	c.2373C>T	c.(2371-2373)ccC>ccT	p.P791P	DSG1_ENST00000462981.2_Silent_p.P150P|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	791					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AAACAGAGCCCGTTGTTAGTG	0.507000													29	85					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371443	76371443	+	Silent	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:76371443C>G	ENST00000407242.2	-	3	1436	c.1194G>C	c.(1192-1194)ctG>ctC	p.L398L	LRRC32_ENST00000260061.5_Silent_p.L398L|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.L398L|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	398						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GCAGGTCCCGCAGGGCATTGC	0.642000													6	20					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78511876	78511876	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:78511876C>A	ENST00000397909.2	+	14	3012	c.2839C>A	c.(2839-2841)Cca>Aca	p.P947T	NAV3_ENST00000266692.7_Missense_Mutation_p.P947T|NAV3_ENST00000536525.2_Missense_Mutation_p.P947T|NAV3_ENST00000228327.6_Missense_Mutation_p.P947T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	947						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			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						ACTGAAAAAACCAGAAGAAGA	0.473000										HNSCC(70;0.22)			34	81					1.26612e-14	2.09556e-14	1	1	0
TBX4	9496	broad.mit.edu	37	17	59543214	59543214	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:59543214G>T	ENST00000393853.4	+	4	479	c.316G>T	c.(316-318)Ggc>Tgc	p.G106C	TBX4_ENST00000240335.1_Missense_Mutation_p.G106C			P57082	TBX4_HUMAN	T-box 4	106					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAAAGTCACAGGCATGAACCC	0.537000													62	42					1.45723e-30	2.84238e-30	1	1	0
HIVEP1	3096	broad.mit.edu	37	6	12122061	12122061	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:12122061G>A	ENST00000379388.2	+	4	2365	c.2033G>A	c.(2032-2034)cGt>cAt	p.R678H		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	678					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)				TACTTTTCACGTTCTGAAAGT	0.502000													7	36					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168114405	168114405	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:168114405G>C	ENST00000409728.1	+	11	1537	c.1448G>C	c.(1447-1449)tGt>tCt	p.C483S	XIRP2_ENST00000409043.1_Missense_Mutation_p.C450S|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.C228S|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.C450S|XIRP2_ENST00000420519.1_Missense_Mutation_p.C483S	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					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						CAAATATACTGTAAACCTCAC	0.343000													14	17					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85406830	85406830	+	Silent	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:85406830A>T	ENST00000258888.5	+	11	5231	c.5064A>T	c.(5062-5064)gcA>gcT	p.A1688A		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1688	Alpha-type protein kinase.				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)			AAATCTTCGCAGCAGAAGCCC	0.567000													3	22					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158669566	158669566	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:158669566G>T	ENST00000359610.2	-	1	920	c.877C>A	c.(877-879)Ctg>Atg	p.L293M		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TTATTCCTCAGGCTATAGATA	0.393000													9	27					0.000274275	0.000315295	1	1	0
ACADL	33	broad.mit.edu	37	2	211059990	211059990	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:211059990G>A	ENST00000233710.3	-	9	1284	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	353					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TCATGCAGCTGGAGACAGTTG	0.403000													7	15					0	0	1	0	0
KIZ-AS1	101929591	broad.mit.edu	37	20	21142961	21142961	+	RNA	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr20:21142961G>T	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							TAAGTCCAGAGAACAGAACCA	0.443000													36	21					2.42023e-17	4.17329e-17	1	1	0
TPK1	27010	broad.mit.edu	37	7	144364854	144364854	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:144364854G>A	ENST00000538212.2	-	3	205	c.135C>T	c.(133-135)tcC>tcT	p.S45S	TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000360057.3_Intron|TPK1_ENST00000378099.3_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)	caagacccttggaagctccac	0.463000													23	28					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118629350	118629350	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:118629350C>A	ENST00000336338.5	-	12	1620	c.1555G>T	c.(1555-1557)Ggc>Tgc	p.G519C		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	519						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)		AGGAGGGGGCCTTTGGGCACT	0.388000													29	35					1.55811e-20	2.80955e-20	1	1	0
CDH9	1007	broad.mit.edu	37	5	26886151	26886151	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:26886151G>T	ENST00000231021.4	-	10	1726	c.1554C>A	c.(1552-1554)ccC>ccA	p.P518P		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	518	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P518P(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGTGACCTCGGGGAGGGTCAT	0.323000													16	155					2.4624e-09	3.50062e-09	1	1	0
TACR2	6865	broad.mit.edu	37	10	71174743	71174743	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:71174743A>G	ENST00000373306.4	-	2	1088	c.545T>C	c.(544-546)gTg>gCg	p.V182A		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	182					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	CCAGGCCACCACGCACTTGGT	0.622000													19	70					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84562232	84562232	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:84562232G>T	ENST00000262753.4	-	11	1246	c.1101C>A	c.(1099-1101)gaC>gaA	p.D367E	POF1B_ENST00000373145.3_Missense_Mutation_p.D367E	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	367							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTAATTGAGTGTCTTTGAATG	0.328000													3	3					0.150653	0.153187	1	1	0
RYR2	6262	broad.mit.edu	37	1	237837454	237837454	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:237837454C>A	ENST00000366574.2	+	59	8966	c.8649C>A	c.(8647-8649)gcC>gcA	p.A2883A	RYR2_ENST00000360064.6_Silent_p.A2881A|RYR2_ENST00000542537.1_Silent_p.A2867A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2883	4 X approximate repeats.|Calmodulin-binding (Potential).|Modulator (Potential).				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			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)			AAGAGAAAGCCAAGGATAGAG	0.423000													10	32					0.00621372	0.00670933	1	1	0
HAPLN3	145864	broad.mit.edu	37	15	89424732	89424732	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:89424732C>A	ENST00000359595.3	-	3	563	c.349G>T	c.(349-351)Ggc>Tgc	p.G117C	HAPLN3_ENST00000562889.1_Missense_Mutation_p.G179C	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	117	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					TGCACGCGGCCTTGGTAGTCC	0.617000													19	70					9.7654e-05	0.000115629	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32638885	32638885	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr21:32638885T>G	ENST00000286827.3	-	5	875	c.404A>C	c.(403-405)tAc>tCc	p.Y135S	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.Y135S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	135					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						GTCATCCCCGTAAAGCCTGCT	0.532000													12	73					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188855	57188855	+	Silent	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:57188855C>G	ENST00000331162.4	-	5	537	c.267G>C	c.(265-267)acG>acC	p.T89T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AATGGGAACGCGTAACTGAAA	0.363000													13	51					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614726	247614726	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:247614726C>G	ENST00000318749.6	-	1	582	c.559G>C	c.(559-561)Gcc>Ccc	p.A187P		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTGATCACGGCCGGCACCTCA	0.582000													12	52					0	0	1	0	0
SHOX	6473	broad.mit.edu	37	X	591756	591756	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:591756G>T	ENST00000381578.1	+	2	815	c.124G>T	c.(124-126)Gga>Tga	p.G42*	SHOX_ENST00000554971.1_Nonsense_Mutation_p.G42*|SHOX_ENST00000334060.3_Nonsense_Mutation_p.G42*|SHOX_ENST00000381575.1_Nonsense_Mutation_p.G42*	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	42					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		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)				TTTGGAGAGCGGACTGGCGCG	0.612000													25	174					2.44723e-14	4.03571e-14	1	1	0
ATP8B2	57198	broad.mit.edu	37	1	154315331	154315331	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:154315331G>T	ENST00000368489.3	+	15	1446	c.1446G>T	c.(1444-1446)tgG>tgT	p.W482C		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	468					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCTTATTTTGGGACCCCAGCC	0.507000													9	83					0.0477658	0.0492313	1	1	0
ANK2	287	broad.mit.edu	37	4	114275020	114275020	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:114275020C>T	ENST00000357077.4	+	38	5299	c.5246C>T	c.(5245-5247)cCc>cTc	p.P1749L	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P1716L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1716					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)		GAACCCCTTCCCACTGTCAAG	0.448000													74	149					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82436070	82436070	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:82436070G>T	ENST00000370728.1	+	18	3439	c.2794G>T	c.(2794-2796)Ggt>Tgt	p.G932C	LPHN2_ENST00000370713.1_Missense_Mutation_p.G919C|LPHN2_ENST00000370723.1_Missense_Mutation_p.G919C|LPHN2_ENST00000370725.1_Missense_Mutation_p.G932C|LPHN2_ENST00000319517.6_Missense_Mutation_p.G919C|LPHN2_ENST00000359929.3_Missense_Mutation_p.G919C|LPHN2_ENST00000394879.1_Missense_Mutation_p.G919C|LPHN2_ENST00000271029.4_Missense_Mutation_p.G932C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.G919C|LPHN2_ENST00000370727.1_Missense_Mutation_p.G932C|LPHN2_ENST00000370717.2_Missense_Mutation_p.G932C|LPHN2_ENST00000335786.5_Missense_Mutation_p.G932C|LPHN2_ENST00000370730.1_Missense_Mutation_p.G932C|LPHN2_ENST00000370721.1_Missense_Mutation_p.G857C			O95490	LPHN2_HUMAN	latrophilin 2	932					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)		GTGCCTAGAAGGTGTGCAGCT	0.383000													9	67					7.48243e-07	9.73682e-07	1	1	0
ZNF341	84905	broad.mit.edu	37	20	32357950	32357950	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr20:32357950G>T	ENST00000375200.1	+	10	1839	c.1474G>T	c.(1474-1476)Gag>Tag	p.E492*	ZNF341_ENST00000342427.2_Nonsense_Mutation_p.E485*			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	492					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						CACATTTCTGGAGCACATCAA	0.592000													20	17					1.64113e-05	2.00878e-05	1	1	0
CRX	1406	broad.mit.edu	37	19	48337737	48337737	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:48337737G>T	ENST00000221996.7	+	2	243	c.37G>T	c.(37-39)Gtc>Ttc	p.V13F	TPRX2P_ENST00000535362.1_Missense_Mutation_p.V13F|CRX_ENST00000539067.1_Missense_Mutation_p.V13F	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	13					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCACTATTCTGTCAACGCCTT	0.592000													7	36					0.000274275	0.000315295	1	1	0
HOXD13	3239	broad.mit.edu	37	2	176958368	176958368	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:176958368G>T	ENST00000392539.3	+	1	750	c.750G>T	c.(748-750)caG>caT	p.Q250H		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	250					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		ACCAGCCACAGGGGTCCCACT	0.577000			T	NUP98	AML*								23	50					1.64293e-13	2.6705e-13	1	1	0
AP3S2	10239	broad.mit.edu	37	15	90378816	90378816	+	Silent	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:90378816T>A	ENST00000336418.4	-	6	905	c.513A>T	c.(511-513)ccA>ccT	p.P171P	AP3S2_ENST00000558011.1_Silent_p.P183P|AP3S2_ENST00000560940.1_Intron|AP3S2_ENST00000560771.1_5'UTR|C15orf38-AP3S2_ENST00000398333.3_Silent_p.P372P	NM_005829.4	NP_005820.1			adaptor-related protein complex 3, sigma 2 subunit									p.P171P(1)		NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			GAGGAATCTCTGGCAGGTTGA	0.483000													18	62					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136523515	136523515	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:136523515G>A	ENST00000393056.2	+	12	1812	c.1800G>A	c.(1798-1800)caG>caA	p.Q600Q		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	600					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)	CCACCAGCCAGGGCCGAAGCC	0.662000													9	75					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64358937	64358937	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:64358937C>A	ENST00000377574.1	+	0	656				SLC22A12_ENST00000336464.7_De_novo_Start_OutOfFrame|SLC22A12_ENST00000377572.1_De_novo_Start_OutOfFrame|SLC22A12_ENST00000473690.1_De_novo_Start_OutOfFrame|SLC22A12_ENST00000377567.2_De_novo_Start_OutOfFrame	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12						cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TGGGCACCACCGTGGGGGAAA	0.637000													16	20					6.72482e-11	1.01151e-10	1	1	0
RGS7BP	401190	broad.mit.edu	37	5	63803605	63803605	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:63803605C>T	ENST00000334025.2	+	2	559	c.233C>T	c.(232-234)tCg>tTg	p.S78L	RGS7BP_ENST00000508162.1_Intron	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	78					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		GGGGATGTCTCGGTCAGCTGC	0.498000													6	66					0	0	1	0	0
ENOSF1	55556	broad.mit.edu	37	18	694274	694274	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr18:694274C>G	ENST00000383578.3	-	3	328	c.124G>C	c.(124-126)Gac>Cac	p.D42H	ENOSF1_ENST00000251101.7_Missense_Mutation_p.D124H|ENOSF1_ENST00000340116.7_Missense_Mutation_p.D145H|ENOSF1_ENST00000539164.1_Missense_Mutation_p.D124H|ENOSF1_ENST00000580982.1_Missense_Mutation_p.G85A	NM_001126123.3	NP_001119595.1	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	124					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GCCCACAAGTCCCACACCGCG	0.542000													5	31					0	0	1	0	0
MOS	4342	broad.mit.edu	37	8	57025932	57025932	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:57025932G>T	ENST00000311923.1	-	1	609	c.610C>A	c.(610-612)Ccc>Acc	p.P204T		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	204	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			ATGTTCGCGGGCTTCAGGTCC	0.478000													7	63					8.12818e-05	9.64956e-05	1	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51918291	51918291	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:51918291C>G	ENST00000356298.5	-	8	1518	c.1402G>C	c.(1402-1404)Gcc>Ccc	p.A468P	SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.A468P|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.A410P	NM_033130.4	NP_149121.2	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	468					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCCGGGCTGGCCTGGGAGGAG	0.701000													6	27					0	0	1	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036289	57036289	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr20:57036289C>T	ENST00000371149.3	-	4	1293	c.1063G>A	c.(1063-1065)Gtc>Atc	p.V355I	APCDD1L_ENST00000491015.1_5'UTR|APCDD1L_ENST00000439429.1_Missense_Mutation_p.V366I	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	355						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GCCCGTGTGACCTCAAACACC	0.687000													11	46					0	0	1	0	0
MPP4	58538	broad.mit.edu	37	2	202549805	202549805	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:202549805C>A	ENST00000409474.3	-	7	763	c.556G>T	c.(556-558)Ggg>Tgg	p.G186W	MPP4_ENST00000409143.1_Missense_Mutation_p.G159W|MPP4_ENST00000315506.7_Missense_Mutation_p.G186W|MPP4_ENST00000447335.2_Missense_Mutation_p.G186W|MPP4_ENST00000428900.2_Missense_Mutation_p.G186W|MPP4_ENST00000396886.3_Missense_Mutation_p.G142W|MPP4_ENST00000359962.5_Missense_Mutation_p.G186W	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	186	PDZ.					cytoplasm	protein binding			kidney(1)|lung(11)	12						TCCGCCAGCCCACCGTGGATG	0.522000													5	6					0.000602214	0.000682761	1	1	0
BCAN	63827	broad.mit.edu	37	1	156618606	156618606	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:156618606C>T	ENST00000329117.4	+	6	1352	c.1016C>T	c.(1015-1017)aCt>aTt	p.T339I	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.T339I	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	339	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCAACCAGACTGGCTTCCCC	0.582000													29	184					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326307	152326307	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:152326307C>T	ENST00000388718.5	-	3	4027	c.3955G>A	c.(3955-3957)Gga>Aga	p.G1319R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1319							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGTATCTCCTCTCTGTCCA	0.473000													47	198					0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101200779	101200779	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:101200779G>A	ENST00000341267.4	+	5	940	c.698G>A	c.(697-699)tGt>tAt	p.C233Y	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	233	EGF-like 6.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGCTACGAGTGTCTGTGCAAG	0.657000													22	75					0	0	1	0	0
PDZD3	79849	broad.mit.edu	37	11	119059376	119059376	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:119059376G>T	ENST00000531114.1	+	7	1834	c.1285G>T	c.(1285-1287)Gag>Tag	p.E429*	PDZD3_ENST00000392817.2_Nonsense_Mutation_p.E429*|PDZD3_ENST00000355547.5_Nonsense_Mutation_p.E363*|PDZD3_ENST00000525131.1_Nonsense_Mutation_p.E350*|PDZD3_ENST00000322712.4_Nonsense_Mutation_p.E349*			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	429					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CCTCTTCTTGGAGAACACAGA	0.627000													33	59					1.06647e-15	1.79794e-15	1	1	0
VPS41	27072	broad.mit.edu	37	7	38768292	38768292	+	Splice_Site	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:38768292C>T	ENST00000310301.4	-	26	2413	c.2359_splice	c.e26+1	p.E787_splice	VPS41_ENST00000395969.2_Splice_Site_p.E762_splice	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	787					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TTTTACCCACCATCAACAAGA	0.413000													28	20					0	0	1	0	0
UXS1	80146	broad.mit.edu	37	2	106739513	106739513	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:106739513C>A	ENST00000283148.7	-	9	769	c.672G>T	c.(670-672)tgG>tgT	p.W224C	UXS1_ENST00000428048.2_Missense_Mutation_p.W63C|UXS1_ENST00000409032.1_Missense_Mutation_p.W51C|UXS1_ENST00000409501.3_Missense_Mutation_p.W219C|UXS1_ENST00000540130.1_Missense_Mutation_p.W162C	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	219					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TCACGTGGCCCCAGTAATCCT	0.463000													5	69					0.000602214	0.000682761	1	1	0
CUX2	23316	broad.mit.edu	37	12	111758261	111758261	+	Silent	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:111758261T>C	ENST00000261726.6	+	17	2602	c.2448T>C	c.(2446-2448)tcT>tcC	p.S816S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	816						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						CTGGCTACTCTGGCCAGCCCA	0.756000													23	32					0	0	1	0	0
TRAV21	28662	broad.mit.edu	37	14	22521026	22521026	+	RNA	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:22521026G>T	ENST00000390449.3	+	0	54																											TTCTGAACAGGGGTGAGCAGC	0.408000													11	61					0.000673444	0.000762564	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70504160	70504160	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:70504160A>T	ENST00000310961.5	+	22	2972	c.2554A>T	c.(2554-2556)Aga>Tga	p.R852*	LRRC7_ENST00000415775.2_Nonsense_Mutation_p.R131*|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.R847*			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	847						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GAATTGGACCAGAACCCCTAG	0.488000													27	25					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89086878	89086878	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:89086878C>A	ENST00000286614.6	-	7	1458	c.1177G>T	c.(1177-1179)Gat>Tat	p.D393Y	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	393	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TAAACTGCATCGATACTAGGA	0.408000													28	41					3.65163e-15	6.08828e-15	1	1	0
ZNF648	127665	broad.mit.edu	37	1	182026998	182026998	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:182026998C>A	ENST00000339948.3	-	2	355	c.148G>T	c.(148-150)Gac>Tac	p.D50Y		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCCACCGGGTCAGCGGTGCCC	0.552000													12	97					3.07112e-06	3.89037e-06	1	1	0
THSD7B	80731	broad.mit.edu	37	2	137748480	137748480	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:137748480G>A	ENST00000413152.2	+	1	19	c.19G>A	c.(19-21)Gag>Aag	p.E7K	THSD7B_ENST00000409968.1_Intron|THSD7B_ENST00000272643.3_Intron	NM_001080427.1	NP_001073896.1			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)		CACAGCAGATGAGGTGGTTTT	0.393000													3	7					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70859932	70859932	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:70859932G>T	ENST00000322773.4	+	30	2134	c.2032G>T	c.(2032-2034)Gac>Tac	p.D678Y	COL19A1_ENST00000393344.1_Missense_Mutation_p.D300Y	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	678	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCCCCCAGGTGACCCGGTATG	0.483000													44	37					8.20599e-20	1.45652e-19	1	1	0
PCDHGA6	56109	broad.mit.edu	37	5	140754689	140754689	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:140754689G>T	ENST00000517434.1	+	1	1039	c.1039G>T	c.(1039-1041)Gtg>Ttg	p.V347L	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_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)			TGTACCAGAAGTGGTTGTTAC	0.458000													31	58					1.75199e-13	2.83253e-13	1	1	0
PRR23B	389151	broad.mit.edu	37	3	138739142	138739142	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:138739142C>A	ENST00000329447.5	-	1	626	c.362G>T	c.(361-363)gGg>gTg	p.G121V	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	121								p.G121V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACTTCCAGCCCGGCAGACGA	0.637000													18	52					3.32936e-07	4.38914e-07	1	1	0
LRP12	29967	broad.mit.edu	37	8	105503667	105503667	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:105503667C>A	ENST00000276654.5	-	7	1922	c.1814G>T	c.(1813-1815)cGt>cTt	p.R605L	LRP12_ENST00000424843.2_Missense_Mutation_p.R586L|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	605					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATTAAAAATACGGTTCCAAAT	0.453000													7	56					0.00307968	0.00338989	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1272821	1272821	+	Missense_Mutation	SNP	G	G	A	rs56353324		TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:1272821G>A	ENST00000447027.1	+	31	14778	c.14720G>A	c.(14719-14721)cGc>cAc	p.R4907H	MUC5B_ENST00000529681.1_Missense_Mutation_p.R4904H			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4904	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)		GGGACCACCCGCACCCCTGCA	0.652000													8	24					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114803928	114803928	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:114803928G>T	ENST00000526441.1	-	7	1023	c.1024C>A	c.(1024-1026)Ctt>Att	p.L342I	TBX5_ENST00000349716.5_Intron|TBX5_ENST00000405440.2_Intron|TBX5_ENST00000310346.4_Intron			Q99593	TBX5_HUMAN	T-box 5	0					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAAAGGAAAAGGTAAGAAAGA	0.398000													11	24					1.58986e-06	2.03673e-06	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766177	77766177	+	Silent	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:77766177T>C	ENST00000521891.2	+	10	7468	c.7020T>C	c.(7018-7020)gaT>gaC	p.D2340D	ZFHX4_ENST00000518282.1_Silent_p.D2314D|ZFHX4_ENST00000050961.6_Silent_p.D2295D|ZFHX4_ENST00000455469.2_Silent_p.D2295D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2295						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)			AGGATGAAGATGATGATGCCC	0.443000										HNSCC(33;0.089)			70	78					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117633165	117633165	+	Silent	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:117633165C>T	ENST00000369466.3	+	15	2552	c.2508C>T	c.(2506-2508)ccC>ccT	p.P836P		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	836					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGATACTGCCCCAGCGTAAAT	0.358000													7	17					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210560541	210560541	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:210560541A>T	ENST00000360351.4	+	7	4153	c.3647A>T	c.(3646-3648)gAt>gTt	p.D1216V	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D1212V|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1216					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)	ACGCCTTCTGATGTTGCAGAG	0.448000													4	22					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98354342	98354342	+	Silent	SNP	C	C	T	rs11889573	byFrequency	TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:98354342C>T	ENST00000264972.5	+	12	1820	c.1605C>T	c.(1603-1605)taC>taT	p.Y535Y	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.Y228Y|ZAP70_ENST00000442208.1_Silent_p.Y409Y	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	535	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCTTGTCCTACGGCCAGAAGC	0.627000													19	144					0	0	1	0	0
DDX39B	7919	broad.mit.edu	37	6	31498560	31498560	+	Silent	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:31498560G>C	ENST00000417556.2	-	11	1941	c.1311C>G	c.(1309-1311)tcC>tcG	p.S437S	DDX39B_ENST00000396172.1_Silent_p.S422S|DDX39B_ENST00000415382.2_Silent_p.S344S|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000376177.2_3'UTR|DDX39B_ENST00000458640.1_Silent_p.S422S|DDX39B_ENST00000462421.1_Intron			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	422					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						ACTCACTGTAGGAGGAGATGT	0.453000													19	25					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790066	248790066	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:248790066C>A	ENST00000330803.2	-	1	425	c.364G>T	c.(364-366)Gct>Tct	p.A122S		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTACAGACAGCCACGTAGCAG	0.537000													8	81					0.000157383	0.000183952	1	1	0
SYCP2L	221711	broad.mit.edu	37	6	10959036	10959036	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:10959036C>A	ENST00000283141.6	+	26	2479	c.2183C>A	c.(2182-2184)cCg>cAg	p.P728Q		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	728						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AGAAAGCGTCCGTTTAATTCA	0.328000													13	8					1.05317e-09	1.53327e-09	1	1	0
NLRP13	126204	broad.mit.edu	37	19	56407339	56407339	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:56407339G>T	ENST00000342929.3	-	11	3103	c.3104C>A	c.(3103-3105)tCg>tAg	p.S1035*	NLRP13_ENST00000588751.1_Intron	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	1035				KALKKSTCRLQKLG -> FKKTCTM (in Ref. 2; DAA01241).			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)		CCTGCATGTCGACTTTTTCAA	0.463000													42	96					1.61004e-24	3.0423e-24	1	1	0
SMR3A	26952	broad.mit.edu	37	4	71227876	71227876	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:71227876C>A	ENST00000226460.4	+	2	140	c.44C>A	c.(43-45)gCg>gAg	p.A15E		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	15						extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GCTCTTGCAGCGTGTTTCACA	0.348000													20	60					8.24728e-16	1.39558e-15	1	1	0
LYG2	254773	broad.mit.edu	37	2	99858900	99858900	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:99858900G>A	ENST00000333017.2	-	6	678	c.566C>T	c.(565-567)cCa>cTa	p.P189L	LYG2_ENST00000409238.1_Missense_Mutation_p.P189L	NM_175735.3	NP_783862.2	Q86SG7	LYG2_HUMAN	lysozyme G-like 2	189					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						TATGTCCGATGGGGTGGCAAT	0.418000													32	75					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42990679	42990679	+	Silent	SNP	C	C	T	rs147404772	byFrequency	TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:42990679C>T	ENST00000253408.5	-	4	803	c.738G>A	c.(736-738)gcG>gcA	p.A246A	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.A246A|GFAP_ENST00000435360.2_Silent_p.A246A	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	246	Coil 2A.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGTTGCTGGACGCCATTGCCT	0.612000													13	123					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058361	11058361	+	RNA	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr21:11058361C>A	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTATAAAACCTTGAAAAGGA	0.353000													4	49					0.00024832	0.000288013	1	1	0
BRIP1	83990	broad.mit.edu	37	17	59870991	59870991	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:59870991C>G	ENST00000259008.2	-	10	1707	c.1440G>C	c.(1438-1440)atG>atC	p.M480I	BRIP1_ENST00000577598.1_Missense_Mutation_p.M480I	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	480					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TGGTGATACCCATTTTGTGTA	0.338000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					4	1					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322953	79322953	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:79322953G>C	ENST00000428286.1	-	8	4360	c.3160C>G	c.(3160-3162)Cgt>Ggt	p.R1054G	PRUNE2_ENST00000376718.3_Missense_Mutation_p.R1413G			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1413					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGCACATCACGGGAGTCTAGA	0.453000													11	14					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140596013	140596013	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:140596013A>T	ENST00000341948.4	+	1	2505	c.2318A>T	c.(2317-2319)aAc>aTc	p.N773I		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		773					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTATCCCCAACTTCCCTCCC	0.488000													25	49					0	0	1	0	0
OR10V1	390201	broad.mit.edu	37	11	59481116	59481116	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:59481116A>T	ENST00000307552.2	-	1	221	c.203T>A	c.(202-204)gTt>gAt	p.V68D	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						GATTTCTAGAACTGCCAGATT	0.473000													3	24					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147131172	147131172	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:147131172C>T	ENST00000282928.4	+	3	1907	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	393	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCTCGCAGCCTTCGCCGGCC	0.617000													14	82					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30408087	30408087	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr20:30408087A>G	ENST00000375994.2	+	2	484	c.211A>G	c.(211-213)Act>Gct	p.T71A	MYLK2_ENST00000375985.4_Missense_Mutation_p.T71A			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	71					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCAACCCTCAACTAGCAGCCA	0.672000													33	26					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27462235	27462235	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:27462235A>T	ENST00000264705.4	+	33	5452	c.5290A>T	c.(5290-5292)Atg>Ttg	p.M1764L	CAD_ENST00000403525.1_Missense_Mutation_p.M1701L	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1764	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TCCCAGCCACATGCCCTTCTC	0.572000													4	33					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220310249	220310249	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:220310249G>T	ENST00000366922.1	+	16	2160	c.1829G>T	c.(1828-1830)gGa>gTa	p.G610V	IARS2_ENST00000302637.5_Missense_Mutation_p.G682V			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	682					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GTTAATGGAGGACAAGTAGGT	0.348000													11	9					2.80697e-09	3.98423e-09	1	1	0
INPP4B	8821	broad.mit.edu	37	4	143094859	143094859	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:143094859C>A	ENST00000513000.1	-	17	1718	c.1285G>T	c.(1285-1287)Gac>Tac	p.D429Y	INPP4B_ENST00000308502.4_Missense_Mutation_p.D429Y|INPP4B_ENST00000509777.1_Missense_Mutation_p.D429Y|INPP4B_ENST00000508116.1_Missense_Mutation_p.D429Y|INPP4B_ENST00000262992.4_Missense_Mutation_p.D429Y	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	429					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AGCAGTAGGTCTGCATGGGTT	0.383000													16	30					4.7546e-09	6.70673e-09	1	1	0
PDZRN3	23024	broad.mit.edu	37	3	73433089	73433089	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:73433089G>T	ENST00000263666.4	-	10	2742	c.2628C>A	c.(2626-2628)caC>caA	p.H876Q	PDZRN3_ENST00000535920.1_Missense_Mutation_p.H598Q|PDZRN3_ENST00000466780.1_Missense_Mutation_p.H533Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.H593Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.H533Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	876							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGTGCTGGGCGTGCGCCGGGA	0.647000													16	72					6.94344e-10	1.01905e-09	1	1	0
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	by1000genomes	TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr22:42538870A>C	ENST00000424775.1	-	0	440				CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA																endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000													6	51					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53420802	53420802	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:53420802G>T	ENST00000377942.3	-	1	1973	c.1770C>A	c.(1768-1770)tcC>tcA	p.S590S	PCDH8_ENST00000338862.4_Silent_p.S590S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	590	Cadherin 5.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGGCGCTGCTGGAAAGCTGAG	0.652000													5	8					0.014758	0.0155645	1	1	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986133	31986133	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr21:31986133C>A	ENST00000329122.2	-	1	116	c.91G>T	c.(91-93)Ggc>Tgc	p.G31C		NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	31						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						TAGCCACAGCCCAGGCCTCCA	0.597000													48	152					7.88023e-25	1.4984e-24	1	1	0
VPS35	55737	broad.mit.edu	37	16	46714695	46714695	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:46714695C>A	ENST00000299138.7	-	5	452	c.394G>T	c.(394-396)Gat>Tat	p.D132Y		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	132					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCTACCAAATCTTTCAAAATA	0.388000													7	32					0.0381472	0.0394522	1	1	0
SPAG16	79582	broad.mit.edu	37	2	214794716	214794716	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:214794716C>A	ENST00000331683.5	+	12	1342	c.1247C>A	c.(1246-1248)aCt>aAt	p.T416N	SPAG16_ENST00000374309.3_Missense_Mutation_p.T322N	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	416					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGTGGTGACACTACAGTTAAA	0.398000													22	50					2.89027e-11	4.39844e-11	1	1	0
IGF2BP1	10642	broad.mit.edu	37	17	47115590	47115590	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:47115590C>A	ENST00000290341.3	+	6	796	c.462C>A	c.(460-462)atC>atA	p.I154I	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	154	RRM 2.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCTCCTACATCCCCGATGAGC	0.612000													28	80					5.61819e-17	9.61452e-17	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81765972	81765972	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:81765972G>A	ENST00000356860.3	-	5	713	c.375C>T	c.(373-375)taC>taT	p.Y125Y	CACNA2D1_ENST00000423588.1_Silent_p.Y125Y|CACNA2D1_ENST00000356253.5_Silent_p.Y125Y	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	125						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CCTTTGCATTGTAGTAGACAA	0.254000													3	2					0	0	1	0	0
TTC25	83538	broad.mit.edu	37	17	40094864	40094864	+	RNA	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:40094864C>T	ENST00000591658.1	+	0	748							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding	p.T227M(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CTCATCATGACGGGCATCAAC	0.582000													12	88					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182072	57182072	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:57182072A>T	ENST00000504228.1	+	6	2509	c.2404A>T	c.(2404-2406)Agc>Tgc	p.S802C	KIAA1211_ENST00000264229.6_Missense_Mutation_p.S802C|KIAA1211_ENST00000541073.1_Missense_Mutation_p.S795C			Q6ZU35	K1211_HUMAN	KIAA1211	802										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCTTGTCCCAAGCCTTCCTTA	0.592000													11	59					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287817	16287817	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr22:16287817C>G	ENST00000343518.6	-	1	120	c.69G>C	c.(67-69)aaG>aaC	p.K23N		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	23										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACTTGCCCATCTTGCTTCTGA	0.577000													25	238					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140596014	140596014	+	Silent	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:140596014C>T	ENST00000341948.4	+	1	2506	c.2319C>T	c.(2317-2319)aaC>aaT	p.N773N		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		773					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTATCCCCAACTTCCCTCCCC	0.493000													25	49					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61747843	61747843	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:61747843G>T	ENST00000577390.1	-	10	2510	c.1556C>A	c.(1555-1557)gCc>gAc	p.A519D	CDH8_ENST00000580044.1_5'UTR|CDH8_ENST00000299345.6_Missense_Mutation_p.A519D|CDH8_ENST00000577730.1_Missense_Mutation_p.A519D	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	519	Cadherin 5.				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)		TTTGTCCATGGCGCTAACAGT	0.388000													13	30					5.50884e-06	6.88225e-06	1	1	0
TBX10	347853	broad.mit.edu	37	11	67401770	67401770	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:67401770G>A	ENST00000335385.3	-	4	526	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	147					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						AAGTGCACGCGGCCAGGTGTG	0.637000													24	75					0	0	1	0	0
KLHL5	51088	broad.mit.edu	37	4	39109240	39109240	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:39109240G>T	ENST00000261425.3	+	9	1729	c.1577G>T	c.(1576-1578)tGg>tTg	p.W526L	KLHL5_ENST00000504108.1_Missense_Mutation_p.W572L|KLHL5_ENST00000261426.5_Missense_Mutation_p.W511L|KLHL5_ENST00000508137.2_Missense_Mutation_p.W385L|KLHL5_ENST00000381930.3_Missense_Mutation_p.W572L|KLHL5_ENST00000359687.2_Missense_Mutation_p.W572L	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	572						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						CATGATGGCTGGAGCTATCTG	0.502000													6	43					0.00198382	0.00219698	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38885814	38885814	+	Silent	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:38885814T>C	ENST00000359357.3	+	68	10025	c.9771T>C	c.(9769-9771)ttT>ttC	p.F3257F	DNAH8_ENST00000441566.1_Silent_p.F3221F|DNAH8_ENST00000449981.2_Silent_p.F3474F					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						ATTATACTTTTGAAAGTGCCA	0.408000													3	28					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686490	100686490	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:100686490A>T	ENST00000306151.4	+	3	11857	c.11793A>T	c.(11791-11793)gaA>gaT	p.E3931D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3931						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)					TGATCACAGAAGGAAGCACAC	0.483000													37	63					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454588	84454588	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:84454588C>T	ENST00000377084.2	-	1	1940	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	352	LRRNT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TAAACCCGACCCTGGGATGTG	0.537000													15	60					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42046466	42046466	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:42046466G>C	ENST00000220809.4	-	4	495	c.239C>G	c.(238-240)tCa>tGa	p.S80*	PLAT_ENST00000524009.1_Nonsense_Mutation_p.S80*|PLAT_ENST00000429710.2_Nonsense_Mutation_p.S80*|PLAT_ENST00000429089.2_Nonsense_Mutation_p.S80*|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000270189.6_Nonsense_Mutation_p.S80*|PLAT_ENST00000519510.1_Nonsense_Mutation_p.S80*	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	80	Fibronectin type-I.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GACAGGCACTGAGTGGCACTG	0.577000													48	131					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81744537	81744537	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:81744537C>T	ENST00000555447.1	-	6	1530	c.1118G>A	c.(1117-1119)aGc>aAc	p.S373N	STON2_ENST00000267540.2_Missense_Mutation_p.S373N	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	373					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)		CTGGGTTTTGCTTGAATCATC	0.453000													20	62					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29904601	29904601	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:29904601C>T	ENST00000256062.5	-	5	1085	c.612G>A	c.(610-612)atG>atA	p.M204I	TMTC1_ENST00000552618.1_Missense_Mutation_p.M312I|TMTC1_ENST00000539277.1_Missense_Mutation_p.M312I|TMTC1_ENST00000381224.2_Missense_Mutation_p.M204I|TMTC1_ENST00000551659.1_Missense_Mutation_p.M312I	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	312						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					cccagtacctcatcatggacc	0.572000													10	45					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26165077	26165077	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr22:26165077C>A	ENST00000335473.7	+	4	1444	c.1194C>A	c.(1192-1194)ccC>ccA	p.P398P	MYO18B_ENST00000407587.2_Silent_p.P398P|MYO18B_ENST00000536101.1_Silent_p.P398P	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	398						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						TGGGGCAACCCCAGGGTAAGT	0.587000													5	14					1.23904e-05	1.52484e-05	1	1	0
STYXL1	51657	broad.mit.edu	37	7	75630299	75630299	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:75630299G>C	ENST00000451157.1	-	8	888	c.719C>G	c.(718-720)tCt>tGt	p.S240C	STYXL1_ENST00000359697.3_Missense_Mutation_p.S240C|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000431581.1_Missense_Mutation_p.S240C|STYXL1_ENST00000340062.5_Missense_Mutation_p.S144C|STYXL1_ENST00000248600.1_Missense_Mutation_p.S240C			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	240	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CAGAATGACAGAGCCAAGGTG	0.547000													12	59					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53602980	53602980	+	Silent	SNP	C	C	A	rs138499950		TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:53602980C>A	ENST00000219022.2	+	1	87	c.9C>A	c.(7-9)ccC>ccA	p.P3P		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	3					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AGATGAGGCCCGGCCTCTCAT	0.587000													37	71					3.62531e-18	6.2751e-18	1	1	0
AXDND1	126859	broad.mit.edu	37	1	179347789	179347789	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:179347789A>T	ENST00000367618.3	+	5	779	c.392A>T	c.(391-393)tAc>tTc	p.Y131F	AXDND1_ENST00000457238.2_Missense_Mutation_p.Y131F|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	131										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TCTTTTCTGTACGATGTAACA	0.393000													5	40					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54304538	54304538	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:54304538C>T	ENST00000324134.6	-	7	2867	c.2699G>A	c.(2698-2700)gGg>gAg	p.G900E	NLRP12_ENST00000535162.1_Missense_Mutation_p.G900E|NLRP12_ENST00000345770.5_Missense_Mutation_p.G901E|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000391775.3_Missense_Mutation_p.G900E|NLRP12_ENST00000391773.1_Missense_Mutation_p.G901E|NLRP12_ENST00000354278.3_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	900					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAGCAGCACCCCGAGGTCCCC	0.622000													7	42					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184076836	184076836	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:184076836C>A	ENST00000265593.4	-	2	318	c.147G>T	c.(145-147)tgG>tgT	p.W49C	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.W49C|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.W49C|CLCN2_ENST00000457512.1_Missense_Mutation_p.W49C	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	49						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GGGGACCTTTCCAGGGTTCAG	0.642000													26	50					4.26978e-12	6.61998e-12	1	1	0
SEC23IP	11196	broad.mit.edu	37	10	121674283	121674283	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:121674283G>T	ENST00000369075.3	+	7	1426	c.1354G>T	c.(1354-1356)Ggc>Tgc	p.G452C	SEC23IP_ENST00000543134.1_Missense_Mutation_p.G241C	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	452					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGTGGTGCATGGCATTGGACC	0.373000													14	81					2.32078e-09	3.30967e-09	1	1	0
GPR87	53836	broad.mit.edu	37	3	151012466	151012466	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:151012466G>T	ENST00000260843.4	-	3	1032	c.568C>A	c.(568-570)Cat>Aat	p.H190N	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	190						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAGCAGTCATGGATATTGTCC	0.443000													31	56					1.06801e-11	1.64184e-11	1	1	0
CACNA1C	775	broad.mit.edu	37	12	2721102	2721102	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:2721102A>G	ENST00000399655.1	+	29	4016	c.3751A>G	c.(3751-3753)Atg>Gtg	p.M1251V	CACNA1C_ENST00000335762.5_Missense_Mutation_p.M1276V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000480911.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000347598.4_Missense_Mutation_p.M1271V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.M1251V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.M1271V	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	1271					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)	CAAAATCGCCATGAACATCCT	0.552000													4	30					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13923526	13923526	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:13923526C>A	ENST00000265104.4	-	4	405	c.301G>T	c.(301-303)Gta>Tta	p.V101L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	101	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)					ACAAGATTTACCCCTCCTAGA	0.408000									Kartagener syndrome				49	81					2.24722e-20	4.0361e-20	1	1	0
RGS9	8787	broad.mit.edu	37	17	63189665	63189665	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:63189665G>T	ENST00000449996.3	+	12	814	c.742G>T	c.(742-744)Gtg>Ttg	p.V248L	RGS9_ENST00000443584.3_Missense_Mutation_p.V248L|RGS9_ENST00000262406.9_Missense_Mutation_p.V251L	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	251	G protein gamma.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TTTCAGGATTGTGAAATACAG	0.473000													18	33					3.52763e-06	4.45621e-06	1	1	0
KIFC2	90990	broad.mit.edu	37	8	145695012	145695012	+	Silent	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:145695012A>G	ENST00000301332.2	+	12	1739	c.1362A>G	c.(1360-1362)ccA>ccG	p.P454P	KIFC2_ENST00000301331.5_Silent_p.P202P	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	454	Kinesin-motor.				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)			TCTTCCCTCCAGACGCCAGCC	0.622000													54	27					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110777745	110777745	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:110777745C>G	ENST00000368919.3	-	2	595	c.529G>C	c.(529-531)Gac>Cac	p.D177H	SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000456137.2_Missense_Mutation_p.D177H|SLC22A16_ENST00000330550.4_Missense_Mutation_p.D143H|SLC22A16_ENST00000439654.1_Missense_Mutation_p.D177H	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	177					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)		TTTTACCTGTCAGAAAAGTAG	0.398000													32	61					0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14489152	14489152	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:14489152G>T	ENST00000454876.2	+	5	756	c.427G>T	c.(427-429)Gcc>Tcc	p.A143S	SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000416216.2_Missense_Mutation_p.A143S|SLC6A6_ENST00000360861.3_Missense_Mutation_p.A143S			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	143					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CGTCATCCTGGCCTGGGCCAC	0.532000													64	184					4.13886e-29	8.05568e-29	1	1	0
HRNR	388697	broad.mit.edu	37	1	152191729	152191729	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:152191729G>T	ENST00000368801.2	-	3	2451	c.2376C>A	c.(2374-2376)ggC>ggA	p.G792G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	792					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)			ACCCGTGTTGGCCGTGGCTGG	0.602000													7	105					0.307466	0.308486	1	1	0
NF1	4763	broad.mit.edu	37	17	29652932	29652932	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:29652932G>T	ENST00000358273.4	+	37	5313	c.4930G>T	c.(4930-4932)Gac>Tac	p.D1644Y	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.D1623Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1644	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATTGTAGTGGACCTTACCCA	0.408000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			40	31					1.67305e-13	2.71459e-13	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	132192496	132192496	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:132192496C>A	ENST00000359827.3	-	2	1919	c.957G>T	c.(955-957)ggG>ggT	p.G319G	PLXNA4_ENST00000378539.5_Silent_p.G319G|PLXNA4_ENST00000423507.2_Silent_p.G319G|PLXNA4_ENST00000321063.4_Silent_p.G319G			Q9HCM2	PLXA4_HUMAN	plexin A4	319	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAAGCACGGCCCCCGCTTTGG	0.582000													25	28					1.55469e-16	2.65058e-16	1	1	0
CPZ	8532	broad.mit.edu	37	4	8608523	8608523	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:8608523C>A	ENST00000382480.2	+	6	1355	c.555C>A	c.(553-555)aaC>aaA	p.N185K	CPZ_ENST00000360986.4_Missense_Mutation_p.N322K|CPZ_ENST00000315782.6_Missense_Mutation_p.N311K|CPZ_ENST00000429646.2_5'UTR	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	322					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGATCTGAACCGAAATTTCC	0.647000													19	44					3.32936e-07	4.38914e-07	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63447706	63447706	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:63447706C>A	ENST00000322893.7	-	6	1094	c.826G>T	c.(826-828)Gag>Tag	p.E276*	KCNH5_ENST00000394968.1_Nonsense_Mutation_p.E218*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.E218*|KCNH5_ENST00000420622.2_Nonsense_Mutation_p.E276*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	276					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GAAATGACCTCTCCACCGGGC	0.433000													13	26					1.49906e-05	1.83736e-05	1	1	0
GRIK1	2897	broad.mit.edu	37	21	31062100	31062100	+	Silent	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr21:31062100C>G	ENST00000399914.1	-	3	1013	c.492G>C	c.(490-492)ctG>ctC	p.L164L	GRIK1_ENST00000399913.1_Silent_p.L164L|GRIK1_ENST00000389125.3_Silent_p.L164L|GRIK1_ENST00000389124.2_Silent_p.L164L|GRIK1_ENST00000399907.1_Silent_p.L164L|GRIK1_ENST00000309434.7_Silent_p.L164L|GRIK1_ENST00000399909.1_Silent_p.L164L|GRIK1_ENST00000535441.1_Silent_p.L164L|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000327783.4_Silent_p.L164L			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	164					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)	AATAGAGGACCAGATCCAGGA	0.483000													46	121					0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282872	69282872	+	Silent	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:69282872T>A	ENST00000338352.2	+	1	532	c.498T>A	c.(496-498)tcT>tcA	p.S166S		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	166	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						TCAGCGTGTCTGTGGAGATGC	0.632000													6	16					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564349	176564349	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:176564349G>T	ENST00000367662.3	+	3	2773	c.1609G>T	c.(1609-1611)Ggc>Tgc	p.G537C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G537C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	537	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						TGATGATGAGGGCCTAAACCC	0.537000													15	49					7.93312e-07	1.02938e-06	1	1	0
ANK2	287	broad.mit.edu	37	4	114278096	114278096	+	Silent	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:114278096C>T	ENST00000357077.4	+	38	8375	c.8322C>T	c.(8320-8322)ggC>ggT	p.G2774G	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.G2741G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2741					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)		TCTGTGATGGCCATGGATGTG	0.488000													7	45					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43219806	43219806	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr18:43219806G>A	ENST00000255226.6	+	7	1755	c.939G>A	c.(937-939)tcG>tcA	p.S313S	SLC14A2_ENST00000586448.1_Silent_p.S313S	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	313						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCATCTCCTCGCCACTCATCT	0.567000													7	29					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599312	136599312	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:136599312G>T	ENST00000531224.1	-	4	959	c.707C>A	c.(706-708)cCt>cAt	p.P236H	BCLAF1_ENST00000527759.1_Missense_Mutation_p.P234H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P236H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P234H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.P236H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P234H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	236					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)		ACTCTGACTAGGTGGTGTAGC	0.443000													7	95					1.06961e-07	1.43088e-07	1	1	0
SAMHD1	25939	broad.mit.edu	37	20	35563483	35563483	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr20:35563483C>A	ENST00000262878.4	-	4	657	c.458G>T	c.(457-459)gGt>gTt	p.G153V	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	153					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AACATAGTAACCACCTCCCAG	0.448000													45	28					4.44401e-20	7.9189e-20	1	1	0
ZNF695	57116	broad.mit.edu	37	1	247150744	247150744	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:247150744C>A	ENST00000339986.7	-	4	1220	c.1073G>T	c.(1072-1074)gGa>gTa	p.G358V	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	358					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	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;0.00271)			AAAGGCTTTTCCACATTCTTC	0.388000													5	21					1.024e-07	1.38415e-07	1	1	0
MAT1A	4143	broad.mit.edu	37	10	82040001	82040001	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:82040001C>A	ENST00000372213.3	-	5	737	c.477G>T	c.(475-477)aaG>aaT	p.K159N		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	159					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GGGCGTTGAGCTTGTGAGCAA	0.622000													21	44					5.26018e-13	8.44422e-13	1	1	0
ALOX15	246	broad.mit.edu	37	17	4536575	4536575	+	Silent	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:4536575C>G	ENST00000570836.1	-	11	1380	c.1284G>C	c.(1282-1284)ctG>ctC	p.L428L	ALOX15_ENST00000293761.3_Silent_p.L428L|ALOX15_ENST00000545513.1_Silent_p.L450L|ALOX15_ENST00000574640.1_Silent_p.L389L			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	428	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CTTGCTTGAGCAGCTGCACGT	0.582000													27	22					0	0	1	0	0
POLM	27434	broad.mit.edu	37	7	44119270	44119270	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:44119270C>A	ENST00000242248.5	-	4	643	c.542G>T	c.(541-543)aGa>aTa	p.R181I	POLM_ENST00000395831.3_Missense_Mutation_p.R181I|POLM_ENST00000335195.6_Missense_Mutation_p.R181I	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	181					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CGAGGCTGCTCTGCAGAAGGT	0.637000								DNA polymerases (catalytic subunits)					38	46					1.90571e-15	3.20088e-15	1	1	0
CCDC39	339829	broad.mit.edu	37	3	180377270	180377270	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:180377270C>A	ENST00000273654.4	-	12	1579	c.960G>T	c.(958-960)aaG>aaT	p.K320N	CCDC39_ENST00000442201.2_Missense_Mutation_p.K236N			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	236					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.K236K(1)|p.K320K(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTCCATCCCTCTTCTGCATCT	0.348000													9	14					1.12685e-05	1.39625e-05	1	1	0
LILRB1	10859	broad.mit.edu	37	19	55143181	55143181	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:55143181G>C	ENST00000396331.1	+	5	658	c.301G>C	c.(301-303)Ggt>Cgt	p.G101R	LILRB1_ENST00000418536.2_Missense_Mutation_p.G101R|LILRB1_ENST00000396327.3_Missense_Mutation_p.G101R|LILRB1_ENST00000396332.4_Missense_Mutation_p.G101R|LILRB1_ENST00000434867.2_Missense_Mutation_p.G101R|LILRB1_ENST00000448689.1_Missense_Mutation_p.G101R|LILRB1_ENST00000427581.2_Missense_Mutation_p.G137R|LILRB1_ENST00000324602.7_Missense_Mutation_p.G101R|LILRB1_ENST00000396317.1_Missense_Mutation_p.G101R|LILRB1_ENST00000396321.2_Missense_Mutation_p.G101R|LILRB1_ENST00000396315.1_Missense_Mutation_p.G101R	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	101	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTGTTACTATGGTAGCGACAC	0.597000										HNSCC(37;0.09)			11	60					0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53910669	53910669	+	Silent	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:53910669T>A	ENST00000335754.3	-	6	856	c.756A>T	c.(754-756)atA>atT	p.I252I	ACTR8_ENST00000482349.1_Silent_p.I141I|ACTR8_ENST00000231909.7_Silent_p.I2I	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	252					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TCTTCATTAGTATCATATTCA	0.284000													3	21					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26906079	26906079	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:26906079C>A	ENST00000231021.4	-	5	972	c.800G>T	c.(799-801)cGa>cTa	p.R267L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	267	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R267Q(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTGGGGAAATCGAGGAGGGTT	0.428000													13	221					4.3838e-07	5.73753e-07	1	1	0
DAPL1	92196	broad.mit.edu	37	2	159663591	159663591	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:159663591A>G	ENST00000309950.3	+	3	227	c.171A>G	c.(169-171)atA>atG	p.I57M	DAPL1_ENST00000409042.1_Missense_Mutation_p.I57M	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	57					apoptosis|cell differentiation					prostate(1)	1						TTGCCAAAATACAGACACTGG	0.463000													6	24					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549195	158549195	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:158549195G>T	ENST00000368150.1	-	1	494	c.495C>A	c.(493-495)tgC>tgA	p.C165*		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGCCTGCAGTGCAAGCAGAGG	0.468000													5	44					0.000602214	0.000682761	1	1	0
OR14A16	284532	broad.mit.edu	37	1	247978310	247978310	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:247978310G>T	ENST00000357627.1	-	1	721	c.722C>A	c.(721-723)cCa>cAa	p.P241Q		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CAGCAAGTGTGGAAGGCAAAT	0.413000													8	43					5.18039e-06	6.4898e-06	1	1	0
OR3A2	4995	broad.mit.edu	37	17	3181544	3181544	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:3181544T>A	ENST00000408891.2	-	1	724	c.686A>T	c.(685-687)cAc>cTc	p.H229L		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	229					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						AGCTGCCACGTGGCTGTAGGC	0.547000													26	53					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31369150	31369150	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:31369150C>A	ENST00000542188.1	-	2	405	c.92G>T	c.(91-93)cGg>cTg	p.R31L	TRPM1_ENST00000397795.2_5'UTR|TRPM1_ENST00000256552.6_Missense_Mutation_p.R14L|TRPM1_ENST00000559179.1_5'UTR	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	0					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GATACATTCCCGTTTGCAAAA	0.398000													5	18					0.184627	0.187312	1	1	0
HFE2	148738	broad.mit.edu	37	1	145415490	145415490	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:145415490C>A	ENST00000336751.5	+	3	547	c.309C>A	c.(307-309)ttC>ttA	p.F103L	HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	103					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCTCGCCTTCCATTCGGCGG	0.721000													62	82					9.64103e-21	1.75239e-20	1	1	0
TTC21A	199223	broad.mit.edu	37	3	39167772	39167772	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:39167772C>A	ENST00000301819.6	+	12	1614	c.1437C>A	c.(1435-1437)atC>atA	p.I479I	TTC21A_ENST00000431162.2_Silent_p.I479I|TTC21A_ENST00000440121.1_Silent_p.I430I	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	479							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGGCCAGATCGTGTCTCCAC	0.527000													10	56					0.335167	0.335908	1	1	0
RRN3P2	653390	broad.mit.edu	37	16	29113412	29113412	+	RNA	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:29113412C>T	ENST00000564580.1	+	0	1312																											CAGACCTGCACAAACCCACTG	0.478000													28	45					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101720352	101720352	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:101720352G>T	ENST00000251127.6	-	39	4445	c.4364C>A	c.(4363-4365)tCc>tAc	p.S1455Y		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1455						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTCCTCAGTGGAATAAAACAA	0.338000													6	13					0.217242	0.219419	1	1	0
ATP8A2	51761	broad.mit.edu	37	13	26138170	26138170	+	Splice_Site	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:26138170G>T	ENST00000381655.2	+	16	1615		c.e16+1		ATP8A2_ENST00000255283.8_Splice_Site	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2						ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGATCGCCATGTAAGTGCTCT	0.423000													3	14					0.004672	0.00506878	1	1	0
XCR1	2829	broad.mit.edu	37	3	46062793	46062793	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:46062793C>A	ENST00000309285.3	-	2	1003	c.647G>T	c.(646-648)cGc>cTc	p.R216L	XCR1_ENST00000542109.1_Missense_Mutation_p.R216L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	216					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCGCTTGGAGCGTGAGCGGAA	0.587000													18	36					3.52763e-06	4.45621e-06	1	1	0
GCNT2	2651	broad.mit.edu	37	6	10586679	10586679	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:10586679G>T	ENST00000265012.4	+	1	701	c.457G>T	c.(457-459)Gct>Tct	p.A153S	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	153						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGCTTTCATTGCTTCAAAGAC	0.478000													55	46					5.82388e-19	1.02171e-18	1	1	0
PADI2	11240	broad.mit.edu	37	1	17431489	17431489	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:17431489G>C	ENST00000375486.4	-	2	223	c.160C>G	c.(160-162)Cgt>Ggt	p.R54G	PADI2_ENST00000444885.2_Missense_Mutation_p.R54G|PADI2_ENST00000375481.1_Missense_Mutation_p.R54G	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	54					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TCCCCATCACGCACCACCTCC	0.662000													21	30					0	0	1	0	0
RGS7BP	401190	broad.mit.edu	37	5	63803606	63803606	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:63803606G>T	ENST00000334025.2	+	2	560	c.234G>T	c.(232-234)tcG>tcT	p.S78S	RGS7BP_ENST00000508162.1_Intron	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	78					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		GGGATGTCTCGGTCAGCTGCC	0.498000													6	64					1.26484e-09	1.82677e-09	1	1	0
KCNS2	3788	broad.mit.edu	37	8	99440603	99440603	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:99440603G>C	ENST00000287042.4	+	2	746	c.396G>C	c.(394-396)caG>caC	p.Q132H	KCNS2_ENST00000521839.1_Missense_Mutation_p.Q132H	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	132						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			AGCCCGAGCAGGAGAAGTGGG	0.567000													8	96					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48697133	48697133	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:48697133G>T	ENST00000354983.4	+	32	6141	c.5769G>T	c.(5767-5769)ggG>ggT	p.G1923G	CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000507336.1_Silent_p.G1946G|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000513689.2_Silent_p.G1912G|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000515411.1_Silent_p.G1939G|CACNA1G_ENST00000510115.1_Silent_p.G1923G|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000507510.2_Silent_p.G1957G|CACNA1G_ENST00000515765.1_Silent_p.G1946G|CACNA1G_ENST00000359106.5_Silent_p.G1957G|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000503485.1_Intron	NM_198396.2	NP_938406.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1957					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)	CAGGCCCAGGGGGCCAGCCCT	0.667000													10	14					2.17888e-05	2.64912e-05	1	1	0
OR4Q3	441669	broad.mit.edu	37	14	20216474	20216474	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:20216474G>C	ENST00000331723.1	+	1	888	c.888G>C	c.(886-888)aaG>aaC	p.K296N		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGATATGAAGACAGCTATGA	0.398000													12	100					0	0	1	0	0
RBFOX2	23543	broad.mit.edu	37	22	36155959	36155959	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr22:36155959G>A	ENST00000405409.2	-	9	1231	c.863C>T	c.(862-864)cCa>cTa	p.P288L	RBFOX2_ENST00000416721.2_Missense_Mutation_p.P287L|RBFOX2_ENST00000414461.2_Missense_Mutation_p.P291L|RBFOX2_ENST00000359369.4_Missense_Mutation_p.P267L|RBFOX2_ENST00000449924.2_Missense_Mutation_p.P291L|RBFOX2_ENST00000397303.2_Missense_Mutation_p.P268L|RBFOX2_ENST00000438146.2_Missense_Mutation_p.P362L|RBFOX2_ENST00000262829.7_Missense_Mutation_p.P269L	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	301	Ala-rich.				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding			endometrium(4)|large_intestine(7)|lung(7)	18						GATGGCTGTTGGAGGTACCGC	0.517000													23	35					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140737051	140737051	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:140737051G>A	ENST00000571252.1	+	1	2284	c.2284G>A	c.(2284-2286)Gac>Aac	p.D762N	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCACCGCGGACTCGCGGAA	0.592000													33	56					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10219635	10219635	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:10219635A>T	ENST00000256458.4	+	2	298	c.208A>T	c.(208-210)Acc>Tcc	p.T70S		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	70	Death.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|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|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GCGGCAGGCCACCGTCCAGCA	0.637000													16	114					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216373233	216373233	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:216373233T>C	ENST00000366943.2	-	17	3933	c.3547A>G	c.(3547-3549)Att>Gtt	p.I1183V	USH2A_ENST00000366942.3_Missense_Mutation_p.I1183V|USH2A_ENST00000307340.3_Missense_Mutation_p.I1183V|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1183	Fibronectin type-III 2.				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)		CAGGACAAAATATATTTCTCT	0.438000										HNSCC(13;0.011)			11	103					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164786890	164786890	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:164786890G>T	ENST00000264382.3	-	4	411	c.349C>A	c.(349-351)Caa>Aaa	p.Q117K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	117	Isomaltase.		Q -> R (in CSID; missorting of the enzyme to the basolateral membrane).		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)	GTCATGTCTTGAACGTTATAA	0.378000										HNSCC(35;0.089)			4	15					0.00024832	0.000288013	1	1	0
TBX22	50945	broad.mit.edu	37	X	79277933	79277933	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:79277933C>A	ENST00000373294.5	+	1	193	c.165C>A	c.(163-165)agC>agA	p.S55R	TBX22_ENST00000373296.3_Missense_Mutation_p.S55R|TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000476373.1_3'UTR	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	55					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAGGGAAGAGCGAGCCGCTTG	0.617000													4	5					0.150653	0.153187	1	1	0
CASP5	838	broad.mit.edu	37	11	104868130	104868130	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:104868130G>A	ENST00000393141.2	-	8	1256	c.1225C>T	c.(1225-1227)Cta>Tta	p.L409L	CASP5_ENST00000526056.1_Silent_p.L409L|CASP5_ENST00000444749.2_Silent_p.L338L|CASP5_ENST00000418434.1_Silent_p.L254L|CASP5_ENST00000260315.3_Silent_p.L396L|CASP5_ENST00000531367.1_Silent_p.L254L|CASP5_ENST00000393139.2_3'UTR	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	396					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ATTTCCATTAGGTGGCAGCAG	0.373000													17	36					0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95540574	95540574	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:95540574C>A	ENST00000295201.4	+	4	904	c.767C>A	c.(766-768)gCc>gAc	p.A256D	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	256					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTGTGCCGTGCCCAGCGCGAG	0.716000													3	18					0.004672	0.00506878	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24924345	24924345	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:24924345G>T	ENST00000329468.2	+	1	3805	c.3331G>T	c.(3331-3333)Gtt>Ttt	p.V1111F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CAGATCCATAGTTGGAGGCCC	0.483000													13	64					1.5842e-08	2.19035e-08	1	1	0
CBWD1	55871	broad.mit.edu	37	9	172158	172158	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:172158C>G	ENST00000377447.3	-	4	408	c.353G>C	c.(352-354)aGa>aCa	p.R118T	CBWD1_ENST00000356521.4_Missense_Mutation_p.R118T|CBWD1_ENST00000377400.4_Missense_Mutation_p.R118T|CBWD1_ENST00000382447.4_Missense_Mutation_p.R118T|CBWD1_ENST00000382393.1_3'UTR|CBWD1_ENST00000431099.2_Missense_Mutation_p.R82T|CBWD1_ENST00000314367.10_Missense_Mutation_p.R82T			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	118							ATP binding|protein binding			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTCAATAGCTCTAAGGCCACT	0.308000													9	50					0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182026999	182026999	+	Silent	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:182026999A>G	ENST00000339948.3	-	2	354	c.147T>C	c.(145-147)gcT>gcC	p.A49A		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CCACCGGGTCAGCGGTGCCCT	0.552000													12	96					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347140	71347140	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:71347140T>G	ENST00000413702.1	+	4	967	c.679T>G	c.(679-681)Tct>Gct	p.S227A	MUC7_ENST00000304887.5_Missense_Mutation_p.S227A|MUC7_ENST00000456088.1_Missense_Mutation_p.S227A	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	227	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGCTCCACCATCTTCCTCAGC	0.577000													58	146					0	0	1	0	0
FIP1L1	81608	broad.mit.edu	37	4	54257245	54257245	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:54257245A>G	ENST00000507166.1	+	8	575	c.575A>G	c.(574-576)cAa>cGa	p.Q192R	FIP1L1_ENST00000337488.6_Missense_Mutation_p.Q192R|FIP1L1_ENST00000358575.5_Missense_Mutation_p.Q177R|FIP1L1_ENST00000306932.6_Missense_Mutation_p.Q177R|FIP1L1_ENST00000507922.1_Missense_Mutation_p.Q177R			Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	192	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGTGAAAAACAAAAGAGGATA	0.323000			T	PDGFRA	idiopathic hypereosinophilic syndrome								9	26					0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50037765	50037765	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:50037765G>A	ENST00000261897.1	+	24	3013	c.2462G>A	c.(2461-2463)gGc>gAc	p.G821D	PRPF40B_ENST00000380281.1_Missense_Mutation_p.G834D|PRPF40B_ENST00000548825.2_Missense_Mutation_p.G855D|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	834					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CGTTCCCCAGGCTTTGGAATC	0.577000													15	49					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102461	168102461	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:168102461C>A	ENST00000409195.1	+	9	4648	c.4559C>A	c.(4558-4560)tCt>tAt	p.S1520Y	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1298Y|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1520Y|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1345					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						ATCCCTCCTTCTGATGTCAAA	0.353000													16	31					8.60227e-14	1.40581e-13	1	1	0
PLA2G2F	64600	broad.mit.edu	37	1	20474846	20474846	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:20474846G>T	ENST00000375102.3	+	5	690	c.588G>T	c.(586-588)gaG>gaT	p.E196D		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	153					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CGCCCCCTGAGGAGGTCACCT	0.632000													6	68					0.000157383	0.000183952	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38739501	38739501	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:38739501C>T	ENST00000449082.2	-	27	5209	c.5210G>A	c.(5209-5211)aGt>aAt	p.S1737N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1737					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)	GTCGTCCTCACTCAGGGGCTC	0.483000													13	61					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156671316	156671316	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:156671316T>A	ENST00000422843.3	+	13	1429	c.1277T>A	c.(1276-1278)cTg>cAg	p.L426Q	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	426	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGTGTGCCTGGAGCAGGCC	0.552000			T	SYK	peripheral T-cell lymphoma								23	23					0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36776406	36776406	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr20:36776406C>A	ENST00000361475.2	-	5	811	c.638G>T	c.(637-639)cGc>cTc	p.R213L	TGM2_ENST00000536724.1_Missense_Mutation_p.R153L|TGM2_ENST00000536701.1_Missense_Mutation_p.R132L	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	213					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GCTGCTGCGGCGGGAGCAGTC	0.627000													11	11					5.16669e-11	7.82335e-11	1	1	0
RYR2	6262	broad.mit.edu	37	1	237813250	237813250	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:237813250C>A	ENST00000366574.2	+	50	7903	c.7586C>A	c.(7585-7587)aCa>aAa	p.T2529K	RYR2_ENST00000360064.6_Missense_Mutation_p.T2527K|RYR2_ENST00000542537.1_Missense_Mutation_p.T2513K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2529	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			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)			CCATTGTTAACAAGATGTGCT	0.473000													18	118					1.99824e-07	2.66138e-07	1	1	0
ITK	3702	broad.mit.edu	37	5	156635952	156635952	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:156635952A>C	ENST00000422843.3	+	2	343	c.191A>C	c.(190-192)gAg>gCg	p.E64A	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	64	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAATGTGTTGAGATTGTGAAA	0.458000			T	SYK	peripheral T-cell lymphoma								13	17					0	0	1	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2979805	2979805	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:2979805C>T	ENST00000399667.2	+	3	482	c.119C>T	c.(118-120)tCc>tTc	p.S40F	FLYWCH1_ENST00000253928.9_Missense_Mutation_p.S40F|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.S40F			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	40						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						AGGGAGTTCTCCAAACTGGTG	0.662000													15	27					0	0	1	0	0
LCE4A	199834	broad.mit.edu	37	1	152681787	152681787	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:152681787A>G	ENST00000368777.1	+	2	492	c.236A>G	c.(235-237)tAt>tGt	p.Y79C	LCE4A_ENST00000335535.3_Missense_Mutation_p.Y79C			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	79	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			TCCAATTGCTATGGCAGTGGC	0.622000													9	102					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45513877	45513877	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:45513877G>C	ENST00000361462.2	+	13	4141	c.3958G>C	c.(3958-3960)Gtc>Ctc	p.V1320L	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.V1320L			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1320							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TGCTGCTGTGGTCTGTTTAAG	0.328000													4	19					0	0	1	0	0
IGHV3-72	28410	broad.mit.edu	37	14	107199117	107199117	+	RNA	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:107199117G>A	ENST00000433072.2	-	0	251																											CCTGGAGCCTGGCGGACCCAG	0.577000													19	143					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754824	49754824	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:49754824T>A	ENST00000304801.3	-	1	229	c.77A>T	c.(76-78)aAt>aTt	p.N26I		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	26	Substrate binding (By similarity).				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)					CATGGGAACATTGAAGTCTAC	0.423000													42	27					0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41077374	41077374	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr22:41077374G>T	ENST00000249016.4	+	2	1407	c.711G>T	c.(709-711)tgG>tgT	p.W237C	MCHR1_ENST00000381433.2_Intron|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	237					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GCCTCCTGTGGGCCCTCTCCT	0.632000													9	87					0.000274275	0.000315295	1	1	0
UQCRH	7388	broad.mit.edu	37	1	46775891	46775891	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:46775891G>A	ENST00000311672.5	+	3	282	c.146G>A	c.(145-147)cGg>cAg	p.R49Q		NM_001089591.1|NM_006004.2	NP_001083060.1|NP_005995.2	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	49					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity			large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					GCCCGGGAGCGGCTAGAGCTC	0.483000													15	55					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133804959	133804959	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:133804959T>C	ENST00000372338.4	-	2	789	c.547A>G	c.(547-549)Atc>Gtc	p.I183V	FIBCD1_ENST00000372337.2_Missense_Mutation_p.I25V|FIBCD1_ENST00000448616.1_Missense_Mutation_p.I183V|FIBCD1_ENST00000253018.4_Missense_Mutation_p.I25V	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	183					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CCTACCTGGATGAGGCGGCCC	0.677000													14	23					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676041	11676041	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:11676041G>C	ENST00000423059.3	-	2	989	c.738C>G	c.(736-738)tgC>tgG	p.C246W		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	246	TSP type-1 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTCGGCCTCGCATGGACTGG	0.637000										HNSCC(18;0.044)			6	52					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68257301	68257301	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:68257301C>A	ENST00000347230.4	-	15	2881	c.2743G>T	c.(2743-2745)Gct>Tct	p.A915S	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A915S	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	915					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCTGCTGCAGCGCTGCCAATG	0.547000													6	52					0.0215528	0.0224952	1	1	0
CTD-2012J19.3	0	broad.mit.edu	37	5	1598420	1598420	+	RNA	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:1598420G>A	ENST00000605200.1	+	0	622																											GTGGAGCCCCGGTGagggagg	0.532000													33	21					0	0	1	0	0
AURKB	9212	broad.mit.edu	37	17	8108672	8108672	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:8108672G>A	ENST00000316199.6	-	8	803	c.726C>T	c.(724-726)ccC>ccT	p.P242P	AURKB_ENST00000578549.1_Silent_p.P209P|AURKB_ENST00000585124.1_Silent_p.P241P|AURKB_ENST00000534871.1_Silent_p.P200P|AURKB_ENST00000535053.1_3'UTR			Q96GD4	AURKB_HUMAN	aurora kinase B	241	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						TCATCTCTGGGGGCAGGTAGT	0.572000													39	40					0	0	1	0	0
RELL2	285613	broad.mit.edu	37	5	141019056	141019056	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:141019056G>A	ENST00000297164.3	+	4	1543	c.343G>A	c.(343-345)Gac>Aac	p.D115N	RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000444782.1_Missense_Mutation_p.D115N|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000518856.1_Missense_Mutation_p.D49N|RELL2_ENST00000521367.1_Missense_Mutation_p.D49N	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	115						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCCTGCAGGACGGAGCCCC	0.582000													8	25					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141459747	141459747	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:141459747C>A	ENST00000389484.3	-	39	7236	c.6265G>T	c.(6265-6267)Gtt>Ttt	p.V2089F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2089					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)		AAGACTGCAACTGAAAACATA	0.428000										TSP Lung(27;0.18)			15	68					2.48551e-13	4.0113e-13	1	1	0
EIF2AK3	9451	broad.mit.edu	37	2	88876134	88876134	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:88876134C>A	ENST00000303236.3	-	12	2275	c.1974G>T	c.(1972-1974)tgG>tgT	p.W658C	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.W507C	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	658	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GTGCTTCGAGCCAGGCATTGA	0.418000													9	39					0.000274275	0.000315295	1	1	0
CILP	8483	broad.mit.edu	37	15	65491151	65491151	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:65491151G>A	ENST00000261883.4	-	9	1639	c.1473C>T	c.(1471-1473)atC>atT	p.I491I		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	491					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GGCCCCGCACGATGCTCCGAG	0.597000													5	23					0	0	1	0	0
ZMYM2	7750	broad.mit.edu	37	13	20659979	20659979	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:20659979A>T	ENST00000382869.3	+	25	4210	c.3959A>T	c.(3958-3960)cAg>cTg	p.Q1320L	ZMYM2_ENST00000382874.2_Missense_Mutation_p.Q1320L|ZMYM2_ENST00000382871.2_Missense_Mutation_p.Q1320L|ZMYM2_ENST00000382870.2_Missense_Mutation_p.Q700L	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AATCTTAATCAGAGGATGGAT	0.378000													4	20					0	0	1	0	0
SFPQ	6421	broad.mit.edu	37	1	35653584	35653584	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:35653584T>A	ENST00000357214.5	-	7	1903	c.1805A>T	c.(1804-1806)tAc>tTc	p.Y602F		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	602					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGGATCCATGTAGCCCATTCG	0.423000			T	TFE3	papillary renal cell								16	84					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171484912	171484912	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:171484912G>T	ENST00000367742.3	+	5	682	c.440G>T	c.(439-441)aGc>aTc	p.S147I	PRRC2C_ENST00000426496.2_Missense_Mutation_p.S145I|PRRC2C_ENST00000392078.3_Missense_Mutation_p.S147I|PRRC2C_ENST00000338920.4_Missense_Mutation_p.S145I|PRRC2C_ENST00000476522.1_3'UTR			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	145							protein C-terminus binding										GAATTTCCCAGCCTGCAGGCA	0.368000													3	20					6.4e-05	7.61953e-05	1	1	0
IRF4	3662	broad.mit.edu	37	6	395894	395894	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:395894C>A	ENST00000380956.4	+	4	577	c.451C>A	c.(451-453)Ccc>Acc	p.P151T	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	151					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CATGAGCCACCCCTACACCAT	0.592000			T	IGH@	MM								8	9					0.00307968	0.00338989	1	1	0
CDKN2A	1029	broad.mit.edu	37	9	21970914	21970914	+	Silent	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:21970914C>T	ENST00000304494.5	-	2	714	c.444G>A	c.(442-444)gcG>gcA	p.A148A	CDKN2A_ENST00000578845.2_Silent_p.A97A|CDKN2A_ENST00000498628.2_Silent_p.A97A|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000497750.1_Silent_p.A97A|CDKN2A_ENST00000361570.3_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Silent_p.A97A|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000479692.2_Silent_p.A97A|CDKN2A_ENST00000446177.1_Silent_p.A148A|CDKN2A_ENST00000498124.1_Silent_p.A148A	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	148			A -> T (in dbSNP:rs3731249).		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.?(13)|p.R128fs*12(3)|p.0(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)		AGGGACCTTCCGCGGCATCTA	0.597000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			7	51					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17081753	17081753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:17081753G>A	ENST00000443236.1	-	18	2333	c.2302C>T	c.(2302-2304)Cag>Tag	p.Q768*	CPAMD8_ENST00000388925.4_3'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	721						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						GTGTGGGGCTGGAAAGCGGGG	0.592000													13	34					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31901427	31901427	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:31901427G>T	ENST00000456570.1	+	3	352	c.297G>T	c.(295-297)gtG>gtT	p.V99V	C2_ENST00000442278.2_Silent_p.V29V|C2_ENST00000452323.2_Silent_p.V38V|C2_ENST00000469372.1_5'UTR|C2_ENST00000418949.2_Silent_p.V161V|C2_ENST00000299367.5_Silent_p.V161V|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Silent_p.V99V			P00751	CFAB_HUMAN	complement factor B	175	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGGGCGCAGTGCGGACAGGCT	0.627000													44	30					1.41504e-22	2.65173e-22	1	1	0
PDCD10	11235	broad.mit.edu	37	3	167414851	167414851	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:167414851C>A	ENST00000392750.2	-	5	631	c.214G>T	c.(214-216)Gtg>Ttg	p.V72L	PDCD10_ENST00000471885.1_Missense_Mutation_p.V72L|PDCD10_ENST00000461494.1_Missense_Mutation_p.V72L|PDCD10_ENST00000492396.1_Missense_Mutation_p.V9L|PDCD10_ENST00000487947.2_Missense_Mutation_p.V72L|PDCD10_ENST00000470131.1_Missense_Mutation_p.V72L|PDCD10_ENST00000473645.2_Missense_Mutation_p.V72L|PDCD10_ENST00000497056.2_Missense_Mutation_p.V72L	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	72					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TTAACTTCCACGCTTTTTTTC	0.338000													4	25					0.014758	0.0155645	1	1	0
MAB21L1	4081	broad.mit.edu	37	13	36049326	36049326	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:36049326G>C	ENST00000379919.4	-	1	1506	c.950C>G	c.(949-951)cCc>cGc	p.P317R	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	317					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		AAAGTAGTGGGGACACCGCCG	0.547000													11	86					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194126775	194126775	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:194126775G>A	ENST00000439040.1	-	33	4345	c.3554C>T	c.(3553-3555)gCa>gTa	p.A1185V	ATP13A3_ENST00000256031.4_Missense_Mutation_p.A1185V			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1185					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CATGTACTTTGCCTTTGGTGT	0.448000													10	48					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404356	197404356	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:197404356G>A	ENST00000367397.1	+	5	2364	c.1506G>A	c.(1504-1506)caG>caA	p.Q502Q	CRB1_ENST00000535699.1_Silent_p.Q1097Q|CRB1_ENST00000367400.3_Silent_p.Q1121Q|CRB1_ENST00000367399.2_Silent_p.Q1009Q|CRB1_ENST00000544212.1_Silent_p.Q602Q|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1121	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.Q1121_E1122>H*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATAAACCTCAGGAAGAGCAAT	0.398000													28	32					0	0	1	0	0
CAMP	820	broad.mit.edu	37	3	48266801	48266801	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:48266801C>A	ENST00000296435.2	+	4	565	c.409C>A	c.(409-411)Ctg>Atg	p.L137M	CAMP_ENST00000576243.1_Missense_Mutation_p.L134M	NM_004345.4	NP_004336.3	P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	134					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GAGATTTGCCCTGCTGGGTGA	0.468000													35	69					1.56738e-10	2.34977e-10	1	1	0
INSRR	3645	broad.mit.edu	37	1	156812256	156812256	+	Silent	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:156812256G>C	ENST00000368195.3	-	18	3567	c.3171C>G	c.(3169-3171)gtC>gtG	p.V1057V	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1057	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACTCCATGATGACCAGAGTTG	0.577000													17	77					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66328219	66328219	+	RNA	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:66328219G>A	ENST00000513398.1	+	0	1950				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						AACACCAAGTGGGATATGGTC	0.572000													23	72					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42088266	42088266	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:42088266T>A	ENST00000395925.3	-	5	587	c.503A>T	c.(502-504)tAt>tTt	p.Y168F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	168					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGGTCCGGATACGTAGGGCT	0.522000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				22	22					0	0	1	0	0
CREB1	1385	broad.mit.edu	37	2	208440050	208440050	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:208440050T>A	ENST00000432329.2	+	7	853	c.602T>A	c.(601-603)gTa>gAa	p.V201E	CREB1_ENST00000353267.3_Missense_Mutation_p.V187E|CREB1_ENST00000539789.1_3'UTR|CREB1_ENST00000536726.1_Missense_Mutation_p.V187E|CREB1_ENST00000430624.1_Missense_Mutation_p.V187E|CREB1_ENST00000374397.4_Intron	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	201					activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	ACCGATGGGGTACAGGGCCTG	0.453000			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""								11	45					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105436552	105436552	+	Silent	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:105436552A>G	ENST00000351513.2	-	7	1290	c.1158T>C	c.(1156-1158)ttT>ttC	p.F386F		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	386					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.F386L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GATAGAGATTAAAAATTTTGG	0.363000													6	38					0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49089464	49089464	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:49089464C>A	ENST00000344532.3	-	6	649	c.226G>T	c.(226-228)Ggc>Tgc	p.G76C	RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000544492.1_5'UTR|RCBTB2_ENST00000430805.2_Missense_Mutation_p.G81C|RCBTB2_ENST00000544904.1_Missense_Mutation_p.G52C	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	76							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CCCAAACAGCCACAGCAGTTT	0.423000													12	81					0.0135373	0.0144451	1	1	0
ANAPC1	64682	broad.mit.edu	37	2	112615964	112615964	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:112615964T>A	ENST00000341068.3	-	11	2049	c.1277A>T	c.(1276-1278)cAa>cTa	p.Q426L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	426					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TTTTGAGGCTTGTGAATTTTT	0.403000													14	20					0	0	1	0	0
GNB4	59345	broad.mit.edu	37	3	179132828	179132828	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:179132828G>T	ENST00000232564.3	-	6	561	c.275C>A	c.(274-276)gCt>gAt	p.A92D	GNB4_ENST00000468623.1_Missense_Mutation_p.A92D	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	92					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CAAAGGAATAGCATGCATCTG	0.393000													10	40					0.000442599	0.000506866	1	1	0
DIRAS2	54769	broad.mit.edu	37	9	93375770	93375770	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:93375770T>A	ENST00000375765.3	-	2	728	c.340A>T	c.(340-342)Atc>Ttc	p.I114F		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	114					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						ATGATGGGGATGCTCTCCACG	0.592000													14	79					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116497460	116497460	+	Silent	SNP	G	G	T	rs146251151		TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:116497460G>T	ENST00000410059.1	+	9	1323	c.843G>T	c.(841-843)ccG>ccT	p.P281P	DPP10_ENST00000310323.8_Silent_p.P274P|DPP10_ENST00000409163.1_Silent_p.P231P|DPP10_ENST00000393147.2_Silent_p.P285P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	281					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGCAGTATCCGTATCCTAAGG	0.423000													18	64					8.34094e-07	1.07921e-06	1	1	0
AMER3	205147	broad.mit.edu	37	2	131520459	131520459	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:131520459C>T	ENST00000423981.1	+	2	924	c.814C>T	c.(814-816)Cca>Tca	p.P272S	AMER3_ENST00000321420.4_Missense_Mutation_p.P272S	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																		CCCGGAGAGCCCAACCCAGGC	0.657000													8	51					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612329	20612329	+	Silent	SNP	G	G	C	rs150068542	byFrequency	TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:20612329G>C	ENST00000333629.1	+	1	435	c.435G>C	c.(433-435)tcG>tcC	p.S145S		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ATGCATTATCGTTGGTTCTGT	0.493000													32	150					0	0	1	0	0
SRC	6714	broad.mit.edu	37	20	36028594	36028594	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr20:36028594G>T	ENST00000373578.2	+	10	1285	c.936G>T	c.(934-936)caG>caT	p.Q312H	SRC_ENST00000445403.1_Missense_Mutation_p.Q312H|SRC_ENST00000373558.2_Missense_Mutation_p.Q318H|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000360723.4_Missense_Mutation_p.Q318H|SRC_ENST00000373567.2_Missense_Mutation_p.Q312H|SRC_ENST00000358208.4_Missense_Mutation_p.Q312H	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	312	Protein kinase.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	CCTTCCTGCAGGAGGCCCAGG	0.562000													29	16					5.61819e-17	9.61452e-17	1	1	0
KCND1	3750	broad.mit.edu	37	X	48825726	48825726	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:48825726G>A	ENST00000218176.3	-	1	2250	c.953C>T	c.(952-954)aCa>aTa	p.T318I		NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	318						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						GCTCTTGAGTGTGTAGCCCAG	0.527000													4	3					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17418584	17418584	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:17418584A>G	ENST00000302539.4	-	33	4126	c.4001T>C	c.(4000-4002)cTg>cCg	p.L1334P	ABCC8_ENST00000389817.3_Missense_Mutation_p.L1333P	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1333					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTTTGGGATCAGCGATGGTGC	0.632000													15	85					0	0	1	0	0
TRAV1-1	28693	broad.mit.edu	37	14	22090029	22090029	+	RNA	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:22090029G>T	ENST00000542354.1	+	0	39																											CGGGGATGCAGTGCCAGGCTC	0.488000													4	20					1.23904e-05	1.52484e-05	1	1	0
GPR110	266977	broad.mit.edu	37	6	46991782	46991782	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:46991782G>A	ENST00000371253.2	-	5	664	c.449C>T	c.(448-450)aCa>aTa	p.T150I	GPR110_ENST00000371243.2_Missense_Mutation_p.T150I|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	150	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TTGCTTACTTGTTCTCTCACA	0.498000													16	6					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90012313	90012313	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:90012313G>T	ENST00000405460.2	+	43	9310	c.9214G>T	c.(9214-9216)Ggc>Tgc	p.G3072C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3072					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAATGATGACGGCCCTGGAGT	0.373000													3	9					0.115264	0.117598	1	1	0
TSHR	7253	broad.mit.edu	37	14	81610426	81610426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:81610426C>A	ENST00000541158.2	+	11	2346	c.2024C>A	c.(2023-2025)cCa>cAa	p.P675Q	TSHR_ENST00000298171.2_Missense_Mutation_p.P675Q|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	675					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TGTGCCAATCCATTCCTCTAT	0.473000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						29	85					9.65021e-13	1.53557e-12	1	1	0
KIAA0947	23379	broad.mit.edu	37	5	5464644	5464644	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:5464644C>G	ENST00000296564.7	+	13	5419	c.5197C>G	c.(5197-5199)Ccc>Gcc	p.P1733A		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1733	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCGACTCCCACCCTGTGCATC	0.602000													7	89					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13871694	13871694	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:13871694C>A	ENST00000265104.4	-	23	3681	c.3577G>T	c.(3577-3579)Ggt>Tgt	p.G1193C	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1193	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)					GCAATGGAACCCACACAGACA	0.378000									Kartagener syndrome				5	61					0.00116845	0.00130515	1	1	0
MAML1	9794	broad.mit.edu	37	5	179192659	179192659	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:179192659G>T	ENST00000292599.3	+	2	911	c.648G>T	c.(646-648)ctG>ctT	p.L216L	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	216					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATAAAGAACTGAAGCAGGAGC	0.512000													35	18					9.04072e-19	1.583e-18	1	1	0
WNT3A	89780	broad.mit.edu	37	1	228238533	228238533	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:228238533A>G	ENST00000284523.1	+	3	568	c.490A>G	c.(490-492)Atg>Gtg	p.M164V	WNT3A_ENST00000366753.2_Missense_Mutation_p.M164V	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	164					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GTTTGGTGGGATGGTGTCTCG	0.672000													12	51					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88035587	88035587	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:88035587G>T	ENST00000307808.6	+	11	2001	c.1581G>T	c.(1579-1581)gcG>gcT	p.A527A	AFF1_ENST00000544085.1_Silent_p.A165A|AFF1_ENST00000395146.4_Silent_p.A534A	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	527						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGCCAGCTGCGCCACCAGAGG	0.552000													7	21					0.0293803	0.0305596	1	1	0
LCE3E	353145	broad.mit.edu	37	1	152538490	152538490	+	Silent	SNP	G	G	T	rs145878248		TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:152538490G>T	ENST00000368789.1	-	2	250	c.195C>A	c.(193-195)cgC>cgA	p.R65R		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	65					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		TGGACCTCTGGCGCCGGCATC	0.672000													18	181					5.03518e-11	7.63698e-11	1	1	0
MAGEL2	54551	broad.mit.edu	37	15	23889876	23889876	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:23889876G>T	ENST00000532292.1	-	1	1299	c.1205C>A	c.(1204-1206)gCc>gAc	p.A402D		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		ATCCTGGGTGGCACTGGATCC	0.592000													7	20					8.12818e-05	9.64956e-05	1	1	0
VGLL1	51442	broad.mit.edu	37	X	135618285	135618285	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:135618285G>T	ENST00000370634.3	+	2	276	c.106G>T	c.(106-108)Gac>Tac	p.D36Y		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CTTCCAAGGGGACATCAGCAG	0.507000													23	22					1.22574e-08	1.70513e-08	1	1	0
SLITRK6	84189	broad.mit.edu	37	13	86368286	86368286	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:86368286C>A	ENST00000400286.2	-	2	2956	c.2358G>T	c.(2356-2358)atG>atT	p.M786I		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	786						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)		AATGTGCCTCCATATCAGGCT	0.408000													8	51					5.18039e-06	6.4898e-06	1	1	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033587	37033587	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:37033587C>A	ENST00000322716.5	-	1	1208	c.982G>T	c.(982-984)Gag>Tag	p.E328*		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	328						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TCACCATGCTCTGATTCAGAT	0.373000													19	36					1.67942e-08	2.31143e-08	1	1	0
CD1A	909	broad.mit.edu	37	1	158226679	158226679	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:158226679G>T	ENST00000289429.5	+	4	1241	c.708G>T	c.(706-708)atG>atT	p.M236I		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	236	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGTGGGTGATGTGGATGCGGG	0.642000													9	123					0.000978159	0.0011021	1	1	0
PCDHA7	56141	broad.mit.edu	37	5	140216098	140216098	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:140216098G>T	ENST00000525929.1	+	1	2130	c.2130G>T	c.(2128-2130)ctG>ctT	p.L710L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.L710L|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCAGTCTGTTGGTGCTTA	0.617000													41	59					4.0492e-12	6.33211e-12	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72827940	72827940	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:72827940T>C	ENST00000268489.5	-	9	9313	c.8641A>G	c.(8641-8643)Atg>Gtg	p.M2881V	ZFHX3_ENST00000397992.5_Missense_Mutation_p.M1967V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2881					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)				GACATTGCCATCATGGCCGCT	0.502000													30	48					0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113780035	113780035	+	Missense_Mutation	SNP	C	C	T	rs138942341		TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:113780035C>T	ENST00000260191.2	+	2	328	c.71C>T	c.(70-72)aCa>aTa	p.T24I	HTR3B_ENST00000537778.1_Missense_Mutation_p.T13I	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	24					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GCCACAGATACACATCATCCC	0.418000													19	37					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42781127	42781127	+	Splice_Site	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:42781127A>G	ENST00000310232.6	-	9	1246	c.1164_splice	c.e9+1	p.M388_splice	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	388										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GGGCCATACCATGAGGGCGTC	0.607000													17	45					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31302372	31302372	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:31302372G>C	ENST00000265071.2	+	6	1231	c.966G>C	c.(964-966)caG>caC	p.Q322H	CDH6_ENST00000514738.1_Missense_Mutation_p.Q267H	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	322	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCACCGACCAGGAAACCCAGG	0.448000													10	92					0	0	1	0	0
PSMC6	5706	broad.mit.edu	37	14	53194258	53194258	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:53194258G>T	ENST00000445930.2	+	14	1141	c.1135G>T	c.(1135-1137)Gaa>Taa	p.E379*	PSMC6_ENST00000606149.1_Nonsense_Mutation_p.E365*|PSMC6_ENST00000557557.1_3'UTR			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	365					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|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TGTAGTACAGGAAGACTTCAT	0.343000													11	23					3.86212e-05	4.6213e-05	1	1	0
UBD	10537	broad.mit.edu	37	6	29524021	29524021	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:29524021A>C	ENST00000377050.4	-	2	357	c.134T>G	c.(133-135)gTg>gGg	p.V45G	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	45	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CTGGTCCTGCACAGGAACCTT	0.473000													13	20					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509442	228509442	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:228509442G>C	ENST00000570156.2	+	66	17845	c.17771G>C	c.(17770-17772)gGc>gCc	p.G5924A	OBSCN_ENST00000284548.11_Missense_Mutation_p.G4967A|OBSCN_ENST00000366707.4_Missense_Mutation_p.G2601A|OBSCN_ENST00000422127.1_Missense_Mutation_p.G4967A|OBSCN_ENST00000366709.4_Missense_Mutation_p.G2086A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4967	PH.				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)				GCTGATGCTGGCTGCTACACC	0.607000													8	94					0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172725332	172725332	+	Splice_Site	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:172725332T>A	ENST00000422440.2	-	3	105	c.66_splice	c.e3-1	p.Y23_splice	SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_5'UTR	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	23					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AGTACTGGCATACTAAAAAAA	0.318000													5	47					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71202711	71202711	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:71202711C>A	ENST00000554752.2	-	9	1879	c.1880G>T	c.(1879-1881)aGt>aTt	p.S627I	MAP3K9_ENST00000554146.1_Intron|MAP3K9_ENST00000553414.1_Intron|MAP3K9_ENST00000555993.2_Missense_Mutation_p.S627I|MAP3K9_ENST00000381250.4_Intron			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	627					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)		TGATGGGGTACTTAAACCATT	0.473000													4	35					0.00909568	0.00974	1	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553103	140553103	+	Silent	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:140553103C>T	ENST00000231137.3	+	1	861	c.687C>T	c.(685-687)cgC>cgT	p.R229R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		229	Cadherin 2.				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)			CCCTCGTGCGCATTCTGGTTC	0.537000													14	23					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283180	5283180	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr20:5283180T>A	ENST00000546004.1	-	3	907	c.661A>T	c.(661-663)Aag>Tag	p.K221*	PROKR2_ENST00000217270.3_Nonsense_Mutation_p.K221*			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	221						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						AAGTAGGACTTGTAGTAGAGC	0.527000										HNSCC(71;0.22)			39	36					0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762127	101762127	+	Silent	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:101762127A>G	ENST00000334289.3	-	9	1645	c.1050T>C	c.(1048-1050)tcT>tcC	p.S350S		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	350	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		GCAATTTTCCAGAGAAGTGAT	0.418000													40	96					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65170937	65170937	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:65170937C>A	ENST00000381210.3	-	7	787	c.677G>T	c.(676-678)gGa>gTa	p.G226V	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.G226V	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	226					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AGAAGTAAATCCCCAGTAAAA	0.308000													10	30					0.00621372	0.00670933	1	1	0
MUC17	140453	broad.mit.edu	37	7	100675017	100675017	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:100675017G>T	ENST00000306151.4	+	3	384	c.320G>T	c.(319-321)aGt>aTt	p.S107I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	107	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)					GGTGTCTCCAGTACCAGGATG	0.473000													20	36					1.56452e-12	2.47217e-12	1	1	0
NUP155	9631	broad.mit.edu	37	5	37299643	37299643	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:37299643T>C	ENST00000231498.3	-	31	3792	c.3589A>G	c.(3589-3591)Aaa>Gaa	p.K1197E	NUP155_ENST00000513532.1_Missense_Mutation_p.K1133E|NUP155_ENST00000381843.2_Missense_Mutation_p.K1138E|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1197					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGCAAGTTTAAATGGGTCA	0.383000													12	68					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16462191	16462191	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:16462191G>C	ENST00000358432.5	-	6	1541	c.1387C>G	c.(1387-1389)Cag>Gag	p.Q463E		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	463	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACTCGGCTCTGCTGCGGCGGG	0.672000													14	77					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885573	180885573	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:180885573T>G	ENST00000367588.4	+	2	389	c.334T>G	c.(334-336)Tcc>Gcc	p.S112A		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	112										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGAGTGGTCATCCCCCAAGAA	0.597000													26	104					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7644225	7644225	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:7644225C>A	ENST00000572933.1	+	11	3064	c.1604C>A	c.(1603-1605)cCa>cAa	p.P535Q	DNAH2_ENST00000570791.1_Missense_Mutation_p.P617Q|DNAH2_ENST00000389173.2_Missense_Mutation_p.P535Q|DNAH2_ENST00000082259.3_Missense_Mutation_p.P617Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	535	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAGAAATGGCCAGACCTGGAG	0.572000													19	90					2.54575e-18	4.4149e-18	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49823410	49823410	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:49823410C>A	ENST00000561648.1	-	2	117	c.64G>T	c.(64-66)Gtg>Ttg	p.V22L	ZNF423_ENST00000562520.1_5'UTR|ZNF423_ENST00000262383.2_Missense_Mutation_p.V22L|ZNF423_ENST00000563137.2_5'UTR	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	22					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)				GCTGCTGTCACGGAGGAATCC	0.567000													12	23					6.40141e-05	7.61953e-05	1	1	0
MUC16	94025	broad.mit.edu	37	19	9061382	9061382	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:9061382G>T	ENST00000397910.4	-	3	26267	c.26064C>A	c.(26062-26064)tcC>tcA	p.S8688S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8690	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						GAGTTGATGTGGAAACACTTG	0.473000													6	26					3.59834e-05	4.32277e-05	1	1	0
CHUK	1147	broad.mit.edu	37	10	101982729	101982729	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:101982729T>C	ENST00000370397.7	-	3	295	c.209A>G	c.(208-210)cAt>cGt	p.H70R		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	70	Protein kinase.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		AACATTGGCATGGTTCAACCT	0.343000													8	14					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169637744	169637744	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:169637744T>A	ENST00000366787.3	-	9	1525	c.1276A>T	c.(1276-1278)Agt>Tgt	p.S426C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	426	TSP type-1 1.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTGCTCAGACTGCAAGCCCGT	0.647000													23	33					0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156890226	156890226	+	Silent	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:156890226T>C	ENST00000311946.7	+	2	464	c.348T>C	c.(346-348)taT>taC	p.Y116Y	NIPAL4_ENST00000521390.1_3'UTR|ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Silent_p.Y116Y	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	116						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						GGCAGAACTATGGCTTCTACA	0.567000													8	45					0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150391823	150391823	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:150391823G>T	ENST00000295910.6	-	11	1315	c.1263C>A	c.(1261-1263)gtC>gtA	p.V421V	FAM194A_ENST00000491361.1_Silent_p.V275V	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	421										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCTCATTCCTGACAACCTATA	0.383000													9	34					2.17888e-05	2.64912e-05	1	1	0
PDE9A	5152	broad.mit.edu	37	21	44117587	44117587	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr21:44117587G>T	ENST00000380328.2	+	4	317	c.281G>T	c.(280-282)tGg>tTg	p.W94L	PDE9A_ENST00000398225.3_Intron|PDE9A_ENST00000398232.3_Intron|PDE9A_ENST00000291539.6_Intron|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000328862.6_Intron|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000335440.6_Intron	NM_001001570.1	NP_001001570.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	0					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						AAGGAGTCATGGGCGTCCCAC	0.423000													20	40					2.4624e-09	3.50062e-09	1	1	0
BCL11A	53335	broad.mit.edu	37	2	60689361	60689361	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:60689361C>A	ENST00000335712.6	-	4	913	c.686G>T	c.(685-687)gGg>gTg	p.G229V	BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.G195V|BCL11A_ENST00000538214.1_Missense_Mutation_p.G195V|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.G229V	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	229					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AATATGAATCCCATGGAGAGG	0.527000			T	IGH@	B-CLL								23	22					1.10923e-09	1.60715e-09	1	1	0
ANKMY1	51281	broad.mit.edu	37	2	241452254	241452254	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:241452254C>A	ENST00000391987.1	-	10	2209	c.1843G>T	c.(1843-1845)Gca>Tca	p.A615S	ANKMY1_ENST00000373318.2_Missense_Mutation_p.A474S|ANKMY1_ENST00000272972.3_Missense_Mutation_p.A615S|ANKMY1_ENST00000403283.1_Missense_Mutation_p.A553S|ANKMY1_ENST00000373320.4_Missense_Mutation_p.A385S|ANKMY1_ENST00000406958.1_Missense_Mutation_p.A376S|ANKMY1_ENST00000361678.4_Missense_Mutation_p.A474S|ANKMY1_ENST00000401804.1_Missense_Mutation_p.A704S|ANKMY1_ENST00000536462.1_3'UTR			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	615							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCGTCGGATGCCTTGGCGTCC	0.612000													5	28					0.0215528	0.0224952	1	1	0
CCHCR1	54535	broad.mit.edu	37	6	31116424	31116424	+	Nonsense_Mutation	SNP	C	C	A	rs150801122		TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:31116424C>A	ENST00000396268.3	-	9	1632	c.1444G>T	c.(1444-1446)Gag>Tag	p.E482*	CCHCR1_ENST00000451521.2_Nonsense_Mutation_p.E446*|CCHCR1_ENST00000376266.5_Nonsense_Mutation_p.E393*|CCHCR1_ENST00000396263.2_Nonsense_Mutation_p.E393*	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	393					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						ACCTCCACCTCTGCGGCTTTG	0.627000													90	72					5.30062e-26	1.01857e-25	1	1	0
TRBV7-4	28594	broad.mit.edu	37	7	142176337	142176337	+	RNA	SNP	G	G	T	rs73162350	by1000genomes	TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:142176337G>T	ENST00000390369.2	-	0	338																											TGGCTAAGCTGCTGGCACAGA	0.557000													6	44					0.0381472	0.0394522	1	1	0
TPO	7173	broad.mit.edu	37	2	1507768	1507768	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:1507768C>A	ENST00000345913.4	+	14	2526	c.2435C>A	c.(2434-2436)gCg>gAg	p.A812E	TPO_ENST00000329066.4_Missense_Mutation_p.A812E|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Missense_Mutation_p.A755E|TPO_ENST00000382198.1_Missense_Mutation_p.A639E|TPO_ENST00000337415.3_Missense_Mutation_p.A812E|TPO_ENST00000346956.3_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.A639E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	812	EGF-like; calcium-binding (Potential).				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)	CACGCCTCTGCGAGGTGCAGA	0.627000													20	47					8.34094e-07	1.07921e-06	1	1	0
GRIN2D	2906	broad.mit.edu	37	19	48908574	48908574	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:48908574C>G	ENST00000263269.3	+	3	1137	c.1049C>G	c.(1048-1050)gCc>gGc	p.A350G		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	350						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GACTGTCGCGCCCAGAACCGC	0.647000													4	14					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20876539	20876539	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:20876539C>A	ENST00000262715.5	-	2	100	c.60G>T	c.(58-60)cgG>cgT	p.R20R	TEP1_ENST00000556935.1_Silent_p.R20R	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	20					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TAGCCAGGCACCGGTTCTCCA	0.498000													15	43					6.72482e-11	1.01151e-10	1	1	0
ZNF675	171392	broad.mit.edu	37	19	23837315	23837315	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:23837315C>A	ENST00000359788.4	-	4	588	c.420G>T	c.(418-420)caG>caT	p.Q140H	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	140					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACATTTTGCTCTGCATAGTTG	0.289000													8	13					1.06961e-07	1.43088e-07	1	1	0
UGT2B11	10720	broad.mit.edu	37	4	70066379	70066379	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:70066379G>T	ENST00000446444.1	-	6	1377	c.1369C>A	c.(1369-1371)Ctg>Atg	p.L457M	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	457					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GCTCGATCCAGGGGCTTTACT	0.408000													28	62					1.32003e-05	1.62231e-05	1	1	0
SI	6476	broad.mit.edu	37	3	164735569	164735569	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:164735569C>G	ENST00000264382.3	-	30	3675	c.3613G>C	c.(3613-3615)Gca>Cca	p.A1205P		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1205	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)	TGCTTTGTTGCAACTTCTGGA	0.323000										HNSCC(35;0.089)			5	14					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90778787	90778787	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:90778787C>A	ENST00000354366.3	-	4	740	c.508G>T	c.(508-510)Gat>Tat	p.D170Y	NRDE2_ENST00000357904.3_5'UTR	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		TTCGCAGGATCTGGTTTCTTA	0.458000													18	40					2.94398e-08	4.02744e-08	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11666894	11666894	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:11666894C>G	ENST00000262442.3	+	36	7201	c.7133C>G	c.(7132-7134)gCc>gGc	p.A2378G	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2378G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2378					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGTTTGCTGCCATCTGGGCT	0.473000													19	26					0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1487194	1487194	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:1487194C>A	ENST00000300954.5	-	7	862	c.801G>T	c.(799-801)acG>acT	p.T267T		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	267	Catalytic (By similarity).		T -> M (in dbSNP:rs36123574).		proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGTCCACCGTGCGGCCGT	0.697000													12	22					1.5842e-08	2.19035e-08	1	1	0
RPRD2	23248	broad.mit.edu	37	1	150445545	150445545	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:150445545A>T	ENST00000401000.4	+	10	4108	c.4043A>T	c.(4042-4044)cAt>cTt	p.H1348L	RPRD2_ENST00000369068.4_Missense_Mutation_p.H1374L|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1374	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTACCCTCCCATTCTCTGGAA	0.672000													11	99					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679465	100679465	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:100679465G>A	ENST00000306151.4	+	3	4832	c.4768G>A	c.(4768-4770)Gct>Act	p.A1590T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1590	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)					CAGTTCTGAGGCTAACACCCT	0.483000													70	158					0	0	1	0	0
N4BP3	23138	broad.mit.edu	37	5	177546899	177546899	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:177546899G>T	ENST00000274605.5	+	2	674	c.315G>T	c.(313-315)cgG>cgT	p.R105R		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	105						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCCAGAACGGGGTCGCTTTG	0.632000													26	54					3.6726e-16	6.23792e-16	1	1	0
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	RNA	SNP	G	G	A	rs9306211		TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622000													6	40					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205039171	205039171	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:205039171G>T	ENST00000331830.4	+	18	2697	c.2413G>T	c.(2413-2415)Gtg>Ttg	p.V805L		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	805	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACTGCACTCGTGTACTCAGC	0.647000													7	58					0.248553	0.250486	1	1	0
PPP4R4	57718	broad.mit.edu	37	14	94700993	94700993	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:94700993G>T	ENST00000304338.3	+	7	872	c.718G>T	c.(718-720)Gcc>Tcc	p.A240S		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	240						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						AGAAAATATAGCCCAGGGCAT	0.358000													4	16					0.00024832	0.000288013	1	1	0
AMZ1	155185	broad.mit.edu	37	7	2740376	2740376	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:2740376C>A	ENST00000312371.4	+	2	659	c.291C>A	c.(289-291)taC>taA	p.Y97*	AMZ1_ENST00000407112.1_Nonsense_Mutation_p.Y97*	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	97							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)		AGCACATCTACCTACAGCCGA	0.637000													51	63					1.39843e-22	2.62603e-22	1	1	0
LILRA2	11027	broad.mit.edu	37	19	55087297	55087297	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:55087297C>A	ENST00000251377.3	+	7	1109	c.976C>A	c.(976-978)Ctc>Atc	p.L326I	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.L326I|LILRA2_ENST00000391737.1_Missense_Mutation_p.L314I|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.L326I|LILRB1_ENST00000396321.2_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)		CAGACCCTCTCTCTCGGTGCA	0.602000													12	26					9.31168e-06	1.16012e-05	1	1	0
CEACAM8	1088	broad.mit.edu	37	19	43097784	43097784	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:43097784G>T	ENST00000244336.5	-	2	434	c.333C>A	c.(331-333)aaC>aaA	p.N111K	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	111	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TTCTGGTGACGTTCCGCATCA	0.433000													51	108					6.27289e-28	1.21571e-27	1	1	0
PRAMEF2	65122	broad.mit.edu	37	1	12919054	12919054	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:12919054C>A	ENST00000240189.2	+	2	277	c.190C>A	c.(190-192)Ctc>Atc	p.L64I		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	64										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)		TTTCACCTGCCTCCCTCTGGT	0.567000													70	110					1.20466e-24	2.28583e-24	1	1	0
DNAH3	55567	broad.mit.edu	37	16	21031082	21031082	+	Silent	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:21031082G>C	ENST00000261383.3	-	41	5885	c.5886C>G	c.(5884-5886)acC>acG	p.T1962T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1962					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.T1962T(2)		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)		TGCCAGCCACGGTCCACACCA	0.493000													6	40					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170044635	170044635	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:170044635C>A	ENST00000263816.3	-	49	9458	c.9173G>T	c.(9172-9174)gGa>gTa	p.G3058V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3058	LDL-receptor class A 24.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGATCCGTCTCCACAGTCATT	0.517000													40	68					8.16277e-20	1.45169e-19	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181732621	181732621	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:181732621G>C	ENST00000526775.1	+	33	4877	c.4712G>C	c.(4711-4713)gGc>gCc	p.G1571A	CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1590A|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1571A|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1590A|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1197A|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1541A|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1522A	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1590					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTGCGTCAGGGCTATACCATA	0.498000													5	40					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725540	140725540	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:140725540A>G	ENST00000253812.6	+	1	1940	c.1940A>G	c.(1939-1941)cAg>cGg	p.Q647R	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCCGTCCAGGACCACGGC	0.716000													67	96					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185463	56185463	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:56185463C>T	ENST00000312253.1	-	1	245	c.246G>A	c.(244-246)atG>atA	p.M82I		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CAAAATTCACCATCATCTTCG	0.443000													4	25					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040277	103040277	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:103040277C>A	ENST00000264260.2	+	4	666	c.77C>A	c.(76-78)tCc>tAc	p.S26Y	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	26					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TCAGGTTGTTCCACAAAAAAA	0.328000													7	26					0.000157383	0.000183952	1	1	0
PAPPA	5069	broad.mit.edu	37	9	118949934	118949934	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:118949934C>A	ENST00000328252.3	+	2	1286	c.917C>A	c.(916-918)cCc>cAc	p.P306H		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	306	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGCAGCAGCCCCAAAGTGGAA	0.572000													11	36					0.000978159	0.0011021	1	1	0
NTNG1	22854	broad.mit.edu	37	1	107937887	107937887	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:107937887T>A	ENST00000370067.1	+	4	1626	c.999T>A	c.(997-999)taT>taA	p.Y333*	NTNG1_ENST00000370071.2_Nonsense_Mutation_p.Y333*|NTNG1_ENST00000370074.4_Nonsense_Mutation_p.Y333*|NTNG1_ENST00000370073.2_Nonsense_Mutation_p.Y333*|NTNG1_ENST00000542803.1_Nonsense_Mutation_p.Y333*|NTNG1_ENST00000370072.3_Nonsense_Mutation_p.Y333*|NTNG1_ENST00000370061.3_Nonsense_Mutation_p.Y333*|NTNG1_ENST00000370065.1_Nonsense_Mutation_p.Y333*|NTNG1_ENST00000370066.1_Nonsense_Mutation_p.Y333*|NTNG1_ENST00000370068.1_Nonsense_Mutation_p.Y333*|NTNG1_ENST00000370070.2_Nonsense_Mutation_p.Y333*			Q9Y2I2	NTNG1_HUMAN	netrin G1	333	Laminin EGF-like 1.				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)		AGAAGAATTATCAGGGCCGAC	0.478000													10	80					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15726083	15726083	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:15726083G>T	ENST00000378076.3	-	4	841	c.488C>A	c.(487-489)cCa>cAa	p.P163Q		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	163					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTCCTTTTCTGGTGTCGGTTT	0.423000													4	50					0.00909568	0.00974	1	1	0
CHST1	8534	broad.mit.edu	37	11	45671455	45671455	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:45671455G>T	ENST00000308064.2	-	4	1689	c.1019C>A	c.(1018-1020)cCc>cAc	p.P340H		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	340					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCCCAGGGTGGGGTCGCCCCG	0.647000													18	82					1.15919e-05	1.43435e-05	1	1	0
TAS2R1	50834	broad.mit.edu	37	5	9629852	9629852	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:9629852C>T	ENST00000382492.2	-	1	611	c.293G>A	c.(292-294)tGg>tAg	p.W98*	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	98					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	p.W98*(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AACGCCGAGCCATGTGGCAAG	0.428000													8	49					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531252	50531252	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:50531252C>A	ENST00000374144.3	+	3	950	c.662C>A	c.(661-663)tCc>tAc	p.S221Y	C10orf71_ENST00000323868.4_Missense_Mutation_p.S221Y			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	221										endometrium(1)	1						GAACAGGAGTCCTCCAAGAAT	0.557000													7	20					0.00448238	0.00491005	1	1	0
CRIP2	1397	broad.mit.edu	37	14	105945826	105945826	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:105945826C>A	ENST00000329146.4	+	7	1268	c.555C>A	c.(553-555)ccC>ccA	p.P185P	CRIP2_ENST00000548989.1_3'UTR|CRIP2_ENST00000483017.3_Silent_p.P259P	NM_001312.2	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	185	Gly-rich.						zinc ion binding			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		TCTTCGGACCCAAGGGTGAGT	0.657000													16	55					1.02788e-11	1.58284e-11	1	1	0
KAT2B	8850	broad.mit.edu	37	3	20142850	20142850	+	Missense_Mutation	SNP	G	G	T	rs148725281		TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:20142850G>T	ENST00000263754.4	+	5	1196	c.741G>T	c.(739-741)ttG>ttT	p.L247F		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	247					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TAGTTGAGTTGGCAAAAATGT	0.403000													19	22					6.94344e-10	1.01905e-09	1	1	0
CFAP221	200373	broad.mit.edu	37	2	120388194	120388194	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:120388194A>C	ENST00000602047.1	+	19	2034	c.922A>C	c.(922-924)Aag>Cag	p.K308Q	PCDP1_ENST00000413369.3_Missense_Mutation_p.K594Q			Q4G0U5	PCDP1_HUMAN		594						cilium	calmodulin binding					Colorectal(110;0.196)					CTCTGTCCACAAGTCTTCAAC	0.428000													17	31					0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84135355	84135355	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:84135355C>T	ENST00000343411.3	-	2	529	c.34G>A	c.(34-36)Gtg>Atg	p.V12M		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	12					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGCAAAACCACGAGCAGAAGC	0.418000													8	74					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213415529	213415529	+	Missense_Mutation	SNP	G	G	T	rs61751035		TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:213415529G>T	ENST00000366960.3	+	11	2860	c.2710G>T	c.(2710-2712)Ggc>Tgc	p.G904C	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.G692C|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.G892C|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.G607C	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	904	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CATCCCAGAGGGCTGCATTCA	0.423000													54	34					9.57592e-29	1.85982e-28	1	1	0
B3GNT6	192134	broad.mit.edu	37	11	76751274	76751274	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:76751274G>T	ENST00000533140.1	+	2	817	c.679G>T	c.(679-681)Gtg>Ttg	p.V227L	B3GNT6_ENST00000421061.1_Missense_Mutation_p.V138L|B3GNT6_ENST00000354301.5_Missense_Mutation_p.V227L			Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	227					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						CGACGTGTTCGTGCACACCGC	0.677000													27	51					1.17739e-12	1.86695e-12	1	1	0
BCL11A	53335	broad.mit.edu	37	2	60689360	60689360	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:60689360C>A	ENST00000335712.6	-	4	914	c.687G>T	c.(685-687)ggG>ggT	p.G229G	BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.G195G|BCL11A_ENST00000538214.1_Silent_p.G195G|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Silent_p.G229G	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	229					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CAATATGAATCCCATGGAGAG	0.532000			T	IGH@	B-CLL								23	21					1.10923e-09	1.60715e-09	1	1	0
OR5P3	120066	broad.mit.edu	37	11	7847235	7847235	+	Silent	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:7847235A>G	ENST00000328375.1	-	1	284	c.285T>C	c.(283-285)gcT>gcC	p.A95A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCACACAACCAGCAACAGGGA	0.532000													9	75					0	0	1	0	0
DPY19L3	147991	broad.mit.edu	37	19	32954383	32954383	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:32954383G>C	ENST00000342179.5	+	13	1649	c.1434G>C	c.(1432-1434)ttG>ttC	p.L478F	DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Missense_Mutation_p.L478F|DPY19L3_ENST00000392250.2_Missense_Mutation_p.L478F	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	478						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TCTTGGCATTGAGTACAATGA	0.343000													7	27					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31743763	31743763	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:31743763C>A	ENST00000375686.3	-	3	728	c.491G>T	c.(490-492)gGg>gTg	p.G164V	VWA7_ENST00000447450.1_Missense_Mutation_p.G164V|VWA7_ENST00000467576.1_Intron|VWA7_ENST00000375688.4_Missense_Mutation_p.G164V	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	164						extracellular region											AAGTGCAGCCCCGAGGCGCTG	0.677000													103	77					1.32035e-51	2.62048e-51	1	1	0
ATP7B	540	broad.mit.edu	37	13	52513329	52513329	+	Splice_Site	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:52513329C>A	ENST00000242839.4	-	17	3713	c.3556_splice	c.e17-1	p.G1186_splice	ATP7B_ENST00000400370.3_Splice_Site_p.G756_splice|ATP7B_ENST00000344297.5_Splice_Site_p.G979_splice|ATP7B_ENST00000417240.2_Splice_Site_p.G397_splice|ATP7B_ENST00000418097.2_Splice_Site_p.G1121_splice|ATP7B_ENST00000400366.3_Splice_Site_p.G1075_splice|ATP7B_ENST00000448424.2_Splice_Site_p.G1108_splice	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1186			G -> C (in WD).|G -> S (in WD; possibly not disease- causing).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACAGAGCACACCTGGAGCGAA	0.542000									Wilson disease				9	40					3.09899e-07	4.10933e-07	1	1	0
SLC22A6	9356	broad.mit.edu	37	11	62744699	62744699	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:62744699G>T	ENST00000377871.3	-	9	1788	c.1522C>A	c.(1522-1524)Ctg>Atg	p.L508M	SLC22A6_ENST00000458333.2_Missense_Mutation_p.L464M|SLC22A6_ENST00000360421.4_Missense_Mutation_p.L508M|SLC22A6_ENST00000421062.2_Missense_Mutation_p.L464M	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	508					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGCTGGCCCAGGGTCTCTGGC	0.617000													35	77					1.06647e-15	1.79794e-15	1	1	0
IRX4	50805	broad.mit.edu	37	5	1880899	1880899	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:1880899G>T	ENST00000505790.1	-	4	803	c.347C>A	c.(346-348)gCa>gAa	p.A116E	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.A116E|IRX4_ENST00000513692.1_Missense_Mutation_p.A116E	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	116					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		AGCGGCTGGTGCCAGGCCCCC	0.627000													16	163					0.00498961	0.0054069	1	1	0
ANK3	288	broad.mit.edu	37	10	62038859	62038859	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:62038859C>A	ENST00000280772.1	-	3	455	c.264G>T	c.(262-264)gaG>gaT	p.E88D	ANK3_ENST00000503366.1_Missense_Mutation_p.E71D|ANK3_ENST00000373827.2_Missense_Mutation_p.E82D	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	88					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAGAAACAACCTCTACATGGC	0.433000													7	35					1.06961e-07	1.43088e-07	1	1	0
IL4R	3566	broad.mit.edu	37	16	27373982	27373982	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:27373982G>T	ENST00000395762.2	+	11	1568	c.1309G>T	c.(1309-1311)Gga>Tga	p.G437*	IL4R_ENST00000543915.2_Nonsense_Mutation_p.G437*|IL4R_ENST00000170630.2_Nonsense_Mutation_p.G437*|IL4R_ENST00000380922.3_Nonsense_Mutation_p.G422*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	437	Required for IRS1 activation and IL4- induced cell growth.				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						TCCACCTTCGGGAAGTACGAG	0.622000													16	72					4.7546e-09	6.70673e-09	1	1	0
ADAM30	11085	broad.mit.edu	37	1	120438671	120438671	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:120438671C>G	ENST00000369400.1	-	1	447	c.289G>C	c.(289-291)Ggg>Cgg	p.G97R		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	97					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)		AGCAGTTCCCCATGTTCTGTG	0.488000													5	58					0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469086	72469086	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:72469086G>T	ENST00000296776.5	+	1	65	c.16G>T	c.(16-18)Ggc>Tgc	p.G6C		NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	6						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)		GCAGGGCAGCGGCCGCTTGGA	0.547000													40	73					1.49673e-21	2.74805e-21	1	1	0
LY75	4065	broad.mit.edu	37	2	160714977	160714977	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:160714977C>A	ENST00000263636.4	-	16	2306	c.2279G>T	c.(2278-2280)aGg>aTg	p.R760M	LY75_ENST00000554112.1_Missense_Mutation_p.R760M|LY75_ENST00000553424.1_Missense_Mutation_p.R760M|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R760M|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R760M	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TCGCCATGGCCTATGAAATAC	0.363000													8	19					1.12685e-05	1.39625e-05	1	1	0
GDF10	2662	broad.mit.edu	37	10	48428975	48428975	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:48428975G>C	ENST00000224605.2	-	2	1176	c.911C>G	c.(910-912)cCg>cGg	p.P304R		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	304					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						ATCCAGCCCCGGCAGCTCGTT	0.756000													7	18					0	0	1	0	0
NSUN3	63899	broad.mit.edu	37	3	93845162	93845162	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:93845162G>C	ENST00000314622.4	+	6	1062	c.851G>C	c.(850-852)gGt>gCt	p.G284A		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	284							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						AACTCCCACGGTAACATCATG	0.448000													7	30					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121228646	121228646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:121228646C>T	ENST00000297848.3	+	14	1924	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.R457*|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.R552*	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	552	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAACAGTGCTCGATTAACCTG	0.383000													33	37					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287604	16287604	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr22:16287604G>T	ENST00000343518.6	-	1	333	c.282C>A	c.(280-282)ctC>ctA	p.L94L		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	94										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCTTGCTCCTGAGTGTCTTCA	0.612000													30	323					3.54561e-26	6.82774e-26	1	1	0
SAMD9L	219285	broad.mit.edu	37	7	92763228	92763228	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:92763228T>G	ENST00000318238.4	-	5	3273	c.2057A>C	c.(2056-2058)cAc>cCc	p.H686P	SAMD9L_ENST00000411955.1_Missense_Mutation_p.H686P|SAMD9L_ENST00000437805.1_Missense_Mutation_p.H686P	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	686										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCGATAAAAGTGTTCTTCTTT	0.348000													18	22					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31126585	31126585	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:31126585G>T	ENST00000304166.4	+	11	1141	c.852G>T	c.(850-852)tgG>tgT	p.W284C	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.W284C|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.W284C|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.W263C	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	284					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGACAGTGTGGGCTACGCTGA	0.512000													61	47					5.10652e-33	1.00251e-32	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88963552	88963552	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:88963552G>A	ENST00000333190.4	+	4	1865	c.1256G>A	c.(1255-1257)aGa>aAa	p.R419K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	419						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAAACAGAAAGAGTTAGCAAA	0.378000										HNSCC(36;0.09)			12	12					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108447982	108447982	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:108447982C>A	ENST00000263054.6	-	10	1535	c.1528G>T	c.(1528-1530)Gat>Tat	p.D510Y	SORCS1_ENST00000344440.6_Missense_Mutation_p.D510Y|SORCS1_ENST00000369698.1_Missense_Mutation_p.D45Y	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	510						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCCCTTAGATCCGTGTCCGGC	0.493000													8	52					0.00448238	0.00491005	1	1	0
NOD2	64127	broad.mit.edu	37	16	50745427	50745427	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:50745427G>T	ENST00000300589.2	+	4	1710	c.1605G>T	c.(1603-1605)ctG>ctT	p.L535L		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	535	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)				CCCAAGGTCTGGGACCCAGTC	0.622000													34	36					3.21399e-22	5.94917e-22	1	1	0
BSN	8927	broad.mit.edu	37	3	49694657	49694657	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:49694657G>T	ENST00000296452.4	+	5	7782	c.7668G>T	c.(7666-7668)cgG>cgT	p.R2556R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2556					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)		TCAAGAAGCGGCACTCCATGC	0.627000													6	46					0.217242	0.219419	1	1	0
C12orf40	283461	broad.mit.edu	37	12	40076718	40076718	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:40076718G>T	ENST00000324616.5	+	8	1146	c.992G>T	c.(991-993)tGt>tTt	p.C331F	C12orf40_ENST00000405531.3_Missense_Mutation_p.C331F|C12orf40_ENST00000398716.1_Missense_Mutation_p.C254F	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	331										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GGAGATACTTGTGTAGTCACT	0.299000													3	14					0.00024832	0.000288013	1	1	0
OR52H1	390067	broad.mit.edu	37	11	5565860	5565860	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:5565860C>A	ENST00000322653.4	-	1	919	c.894G>T	c.(892-894)atG>atT	p.M298I	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCGTAAACCATGGGGTTGA	0.433000													17	42					1.67942e-08	2.31143e-08	1	1	0
MYH1	4619	broad.mit.edu	37	17	10404629	10404629	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:10404629C>A	ENST00000226207.5	-	27	3630	c.3536G>T	c.(3535-3537)cGc>cTc	p.R1179L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1179						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						CAGGTCCCTGCGCATTTTCTG	0.602000													94	77					6.68332e-26	1.28156e-25	1	1	0
HIST2H2BB	338391	broad.mit.edu	37	1	149375147	149375147	+	RNA	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:149375147C>A	ENST00000415338.1	-	0	1061																											GAATTCTAACCTCACCATTCT	0.433000													8	119					0.0581538	0.05987	1	1	0
GRID1	2894	broad.mit.edu	37	10	87482767	87482767	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:87482767G>A	ENST00000327946.7	-	12	2075	c.1990C>T	c.(1990-1992)Ccc>Tcc	p.P664S	GRID1_ENST00000536331.1_Missense_Mutation_p.P235S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	664						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TACCTTATGGGGTTGTCCATC	0.537000										Multiple Myeloma(13;0.14)			5	17					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5363988	5363988	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:5363988A>C	ENST00000300773.2	-	1	821	c.767T>G	c.(766-768)tTg>tGg	p.L256W	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATCAGAGACAATCCAATCAC	0.443000													17	25					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71576136	71576136	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:71576136C>T	ENST00000409544.1	+	2	682	c.52C>T	c.(52-54)Cga>Tga	p.R18*	ZNF638_ENST00000264447.4_Nonsense_Mutation_p.R18*|ZNF638_ENST00000377802.2_Nonsense_Mutation_p.R18*|ZNF638_ENST00000355812.3_Nonsense_Mutation_p.R18*|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	18					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCAAAGGCCACGAGCACCTAA	0.478000													36	55					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135405349	135405349	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:135405349G>A	ENST00000394143.1	+	5	774	c.483G>A	c.(481-483)ggG>ggA	p.G161G	GPR112_ENST00000370652.1_Silent_p.G161G|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000287534.4_Silent_p.G98G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	161					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGTTCCTAGGGCACTTTCTCA	0.463000													12	45					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38943521	38943521	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:38943521C>A	ENST00000355481.4	+	13	1438	c.1307C>A	c.(1306-1308)cCc>cAc	p.P436H	RYR1_ENST00000360985.3_Missense_Mutation_p.P436H|RYR1_ENST00000359596.3_Missense_Mutation_p.P436H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	436					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACGGCGCTGCCCATCGAGGGC	0.662000													5	17					0.000602214	0.000682761	1	1	0
ENO1	2023	broad.mit.edu	37	1	8921448	8921448	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:8921448T>A	ENST00000234590.4	-	12	1395	c.1276A>T	c.(1276-1278)Agg>Tgg	p.R426W		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	426	Required for interaction with PLG (By similarity).				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|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;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CTGAAGTTCCTGCCGGCAAAC	0.532000													24	37					0	0	1	0	0
CLPX	10845	broad.mit.edu	37	15	65443174	65443174	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:65443174G>A	ENST00000300107.3	-	14	2077	c.1889C>T	c.(1888-1890)gCt>gTt	p.A630V		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	630					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						GCTGTTTGCAGCATCTGCTTG	0.403000													13	49					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175265	159175265	+	Silent	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:159175265C>G	ENST00000537147.1	+	3	879	c.36C>G	c.(34-36)ccC>ccG	p.P12P	DARC_ENST00000368122.2_Silent_p.P12P|DARC_ENST00000368121.2_Silent_p.P14P			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	12					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					AGCTCTCCCCCTCAACTGAGA	0.542000													10	88					0	0	1	0	0
TMEM39B	55116	broad.mit.edu	37	1	32542878	32542878	+	Silent	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:32542878C>T	ENST00000427288.1	+	6	684	c.204C>T	c.(202-204)ttC>ttT	p.F68F	TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000456834.2_Intron|TMEM39B_ENST00000336294.5_Silent_p.F183F			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	183						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TCCACCTCTTCAGGACCTACT	0.597000													18	95					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132051815	132051815	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:132051815G>T	ENST00000286355.5	-	1	2857	c.765C>A	c.(763-765)acC>acA	p.T255T	ADCY8_ENST00000377928.3_Silent_p.T255T	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	255					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCAGGATCTGGGTGGTCATGG	0.642000										HNSCC(32;0.087)			5	69					0.0215528	0.0224952	1	1	0
OR4M1	441670	broad.mit.edu	37	14	20249289	20249289	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:20249289G>C	ENST00000315957.4	+	1	889	c.808G>C	c.(808-810)Gat>Cat	p.D270H		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTTCCCTAGATAAAGTGGT	0.418000													10	155					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27950638	27950638	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:27950638G>T	ENST00000379992.2	-	6	481	c.32C>A	c.(31-33)cCa>cAa	p.P11Q	LINGO2_ENST00000308675.3_Missense_Mutation_p.P11Q	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	11						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		ACCCAGGAATGGCTGCCAGCA	0.537000													3	20					0.004672	0.00506878	1	1	0
IFI27L1	122509	broad.mit.edu	37	14	94568273	94568273	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:94568273G>T	ENST00000556381.1	+	5	507	c.172G>T	c.(172-174)Ggg>Tgg	p.G58W	IFI27L1_ENST00000553664.1_Missense_Mutation_p.R81L|IFI27L1_ENST00000555523.1_Missense_Mutation_p.G59W|IFI27L1_ENST00000554562.1_Missense_Mutation_p.G59W|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000393115.3_Missense_Mutation_p.G59W|IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000557066.1_Intron			Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	59						integral to membrane				lung(2)	2						CATTGCCAACGGGGGCGGAGT	0.592000													18	44					6.94344e-10	1.01905e-09	1	1	0
SHOX	6473	broad.mit.edu	37	X	591664	591664	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:591664C>A	ENST00000381578.1	+	2	723	c.32C>A	c.(31-33)tCt>tAt	p.S11Y	SHOX_ENST00000554971.1_Missense_Mutation_p.S11Y|SHOX_ENST00000334060.3_Missense_Mutation_p.S11Y|SHOX_ENST00000381575.1_Missense_Mutation_p.S11Y	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	11					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		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)				GTATCCAAGTCTTTTGACCAG	0.637000													104	196					2.25052e-35	4.45682e-35	1	1	0
ZPLD1	131368	broad.mit.edu	37	3	102171826	102171826	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:102171826C>A	ENST00000306176.1	+	3	318	c.218C>A	c.(217-219)aCg>aAg	p.T73K	ZPLD1_ENST00000491959.1_Missense_Mutation_p.T57K|ZPLD1_ENST00000466937.1_Missense_Mutation_p.T57K	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	57	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						AATTTTTGCACGGTACTTTTC	0.403000													7	43					0.27861	0.280155	1	1	0
ATP2B2	491	broad.mit.edu	37	3	10417305	10417305	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:10417305C>A	ENST00000397077.1	-	10	1665	c.1090G>T	c.(1090-1092)Gtg>Ttg	p.V364L	ATP2B2_ENST00000383800.4_Missense_Mutation_p.V364L|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V409L|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V395L|ATP2B2_ENST00000352432.4_Missense_Mutation_p.V409L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	409					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						AGGATGATCACCGTGATGGCT	0.562000													19	19					1.00905e-13	1.6431e-13	1	1	0
MAPT	4137	broad.mit.edu	37	17	44068923	44068923	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:44068923C>A	ENST00000344290.5	+	9	1800	c.1478C>A	c.(1477-1479)cCg>cAg	p.P493Q	MAPT_ENST00000262410.5_Missense_Mutation_p.P493Q|MAPT_ENST00000574436.1_Missense_Mutation_p.P176Q|MAPT_ENST00000351559.5_Missense_Mutation_p.P176Q|MAPT_ENST00000571987.1_Missense_Mutation_p.P493Q|MAPT_ENST00000340799.5_Missense_Mutation_p.P147Q|MAPT_ENST00000347967.5_Missense_Mutation_p.P82Q|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000535772.1_Missense_Mutation_p.P176Q|MAPT_ENST00000446361.3_Missense_Mutation_p.P118Q|MAPT_ENST00000431008.3_Missense_Mutation_p.P176Q|MAPT_ENST00000415613.2_Missense_Mutation_p.P493Q|MAPT_ENST00000420682.2_Missense_Mutation_p.P147Q|MAPT_ENST00000576518.1_Missense_Mutation_p.P107Q|MAPT_ENST00000334239.8_Missense_Mutation_p.P118Q	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	493					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GCAAAAACCCCGCCCGCTCCA	0.572000													68	54					4.98926e-31	9.77378e-31	1	1	0
IGKV1-9	28941	broad.mit.edu	37	2	89309485	89309485	+	RNA	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:89309485A>G	ENST00000493819.1	-	0	402																											TGGGAGGGTAACTATTAAGCT	0.512000													21	112					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57797989	57797989	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:57797989G>C	ENST00000309042.7	+	4	3279	c.2965G>C	c.(2965-2967)Gca>Cca	p.A989P		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	989					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GTCCAAAACTGCACTGGCATC	0.448000													10	21					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44468288	44468288	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:44468288C>A	ENST00000372310.3	-	7	919	c.754G>T	c.(754-756)Gtg>Ttg	p.V252L	SLC6A9_ENST00000475075.2_Missense_Mutation_p.V141L|SLC6A9_ENST00000360584.2_Missense_Mutation_p.V325L|SLC6A9_ENST00000357730.2_Missense_Mutation_p.V271L|SLC6A9_ENST00000537678.1_Missense_Mutation_p.V187L|SLC6A9_ENST00000372306.3_Missense_Mutation_p.V252L|SLC6A9_ENST00000372307.3_Missense_Mutation_p.V187L	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	325						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GTCAGCACCACGTAGGGGAAC	0.617000													8	86					1.12685e-05	1.39625e-05	1	1	0
EIF5B	9669	broad.mit.edu	37	2	99980763	99980763	+	Missense_Mutation	SNP	G	G	T	rs3208852		TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:99980763G>T	ENST00000289371.5	+	6	1369	c.1167G>T	c.(1165-1167)agG>agT	p.R389S		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	389					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						aaagagaaaggaaaaagcaaa	0.333000													18	41					2.35188e-11	3.59723e-11	1	1	0
SMOX	54498	broad.mit.edu	37	20	4167442	4167442	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr20:4167442C>G	ENST00000278795.3	+	8	1649	c.1424C>G	c.(1423-1425)cCa>cGa	p.P475R	SMOX_ENST00000346595.2_Intron|SMOX_ENST00000305958.4_Intron|SMOX_ENST00000379460.2_Intron|SMOX_ENST00000339123.6_Intron	NM_175842.1	NP_787036.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	510					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	tccaagtgcccagaacagccc	0.478000													40	31					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150553883	150553883	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:150553883C>G	ENST00000493429.1	+	4	909	c.325C>G	c.(325-327)Ccc>Gcc	p.P109A	AOC1_ENST00000360937.4_Missense_Mutation_p.P109A|AOC1_ENST00000467291.1_Missense_Mutation_p.P109A|AOC1_ENST00000416793.2_Missense_Mutation_p.P109A					amine oxidase, copper containing 1																		CCAGGAGCATCCCAATGTCAC	0.607000													12	82					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6942352	6942352	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:6942352G>T	ENST00000317834.3	+	1	148	c.120G>T	c.(118-120)caG>caT	p.Q40H		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q40Q(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGCAGACCCAGATCCTGCTAT	0.438000													13	41					2.27111e-07	3.02038e-07	1	1	0
CNTN2	6900	broad.mit.edu	37	1	205031666	205031666	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:205031666C>A	ENST00000331830.4	+	10	1493	c.1209C>A	c.(1207-1209)acC>acA	p.T403T		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	403	Ig-like C2-type 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGCACGGTACCATCTACGCCA	0.592000													17	56					4.14922e-12	6.46622e-12	1	1	0
ATP2B1	490	broad.mit.edu	37	12	89995157	89995157	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:89995157T>C	ENST00000428670.3	-	19	3570	c.3114A>G	c.(3112-3114)atA>atG	p.I1038M	ATP2B1_ENST00000348959.3_Intron|ATP2B1_ENST00000261173.2_Missense_Mutation_p.I1038M|ATP2B1_ENST00000359142.3_Missense_Mutation_p.I1038M|ATP2B1_ENST00000393164.2_Missense_Mutation_p.I781M			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1038					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GCCACTGTTCTATTGAAAGTT	0.308000													15	24					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5462151	5462151	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:5462151G>T	ENST00000296564.7	+	13	2926	c.2704G>T	c.(2704-2706)Gca>Tca	p.A902S		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	902										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GTCAACTGTAGCAAAATGTGA	0.428000													8	76					0.000157383	0.000183952	1	1	0
TNRC6A	27327	broad.mit.edu	37	16	24815581	24815581	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:24815581G>T	ENST00000395799.3	+	12	3907	c.3778G>T	c.(3778-3780)Ggt>Tgt	p.G1260C	TNRC6A_ENST00000315183.7_Missense_Mutation_p.G1260C|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1260	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)		GAAAGGCCCTGGTTCTCGGCC	0.398000													4	27					0.00024832	0.000288013	1	1	0
IARS2	55699	broad.mit.edu	37	1	220310248	220310248	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:220310248G>T	ENST00000366922.1	+	16	2159	c.1828G>T	c.(1828-1830)Gga>Tga	p.G610*	IARS2_ENST00000302637.5_Nonsense_Mutation_p.G682*			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	682					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CGTTAATGGAGGACAAGTAGG	0.348000													12	9					7.03913e-09	9.86783e-09	1	1	0
TRPA1	8989	broad.mit.edu	37	8	72977738	72977738	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:72977738G>A	ENST00000262209.4	-	4	707	c.500C>T	c.(499-501)aCa>aTa	p.T167I		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	167						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GATCACAGCTGTGTTTCCATT	0.338000													3	28					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50661258	50661258	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:50661258C>A	ENST00000371824.1	+	5	791	c.534C>A	c.(532-534)atC>atA	p.I178I	ELAVL4_ENST00000371819.1_Silent_p.I183I|ELAVL4_ENST00000371821.1_Silent_p.I183I|ELAVL4_ENST00000357083.4_Silent_p.I195I|ELAVL4_ENST00000448907.2_Silent_p.I181I|ELAVL4_ENST00000371827.1_Silent_p.I178I|ELAVL4_ENST00000371823.4_Silent_p.I178I			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	178	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TGGGATTCATCCGCTTTGATA	0.498000													36	54					1.04594e-18	1.82787e-18	1	1	0
PLEK	5341	broad.mit.edu	37	2	68607961	68607961	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:68607961G>T	ENST00000234313.7	+	3	484	c.305G>T	c.(304-306)tGc>tTc	p.C102F		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	102					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GCCATTAAATGCATTGAAGGA	0.468000													15	81					7.93312e-07	1.02938e-06	1	1	0
PTCHD3	374308	broad.mit.edu	37	10	27702722	27702722	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:27702722C>G	ENST00000438700.3	-	1	575	c.458G>C	c.(457-459)gGc>gCc	p.G153A		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	153					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						GAAGCCGGTGCCCAGCGCGGC	0.677000													20	162					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141819810	141819810	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:141819810G>T	ENST00000389484.3	-	8	2017	c.1046C>A	c.(1045-1047)gCc>gAc	p.A349D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	349					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)		CTCCACTTTGGCGACATTCCC	0.453000										TSP Lung(27;0.18)			17	32					3.41278e-10	5.06611e-10	1	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19770542	19770542	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr21:19770542C>T	ENST00000284885.3	-	2	283	c.250G>A	c.(250-252)Gtt>Att	p.V84I		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	84	SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAAGCAAGAACTTTGAAATCC	0.378000													4	15					0	0	1	0	0
TRDMT1	1787	broad.mit.edu	37	10	17199674	17199674	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:17199674C>A	ENST00000377799.3	-	8	700	c.653G>T	c.(652-654)gGc>gTc	p.G218V	TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000351358.4_Missense_Mutation_p.G172V|TRDMT1_ENST00000457442.2_Missense_Mutation_p.G137V|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000412821.3_Missense_Mutation_p.G194V|TRDMT1_ENST00000488990.1_Missense_Mutation_p.G95V	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	218					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						CTGTATGCTGCCATCAAAGCT	0.338000													6	11					0.0215528	0.0224952	1	1	0
NINL	22981	broad.mit.edu	37	20	25456920	25456920	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr20:25456920C>A	ENST00000278886.6	-	17	3080	c.3007G>T	c.(3007-3009)Ggc>Tgc	p.G1003C	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1003					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCCAGGGCGCCCTCGGCCCGG	0.677000													58	61					9.77497e-20	1.72825e-19	1	1	0
TNR	7143	broad.mit.edu	37	1	175348772	175348772	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:175348772C>A	ENST00000367674.1	-	9	2587	c.1879G>T	c.(1879-1881)Gtg>Ttg	p.V627L	TNR_ENST00000263525.2_Missense_Mutation_p.V627L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	627	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)					GTGCTGTACACAACCTTGTAC	0.557000													21	18					0.000132079	0.000155984	1	1	0
PIK3AP1	118788	broad.mit.edu	37	10	98405368	98405368	+	Nonsense_Mutation	SNP	C	C	A	rs35761788		TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:98405368C>A	ENST00000339364.5	-	8	1356	c.1237G>T	c.(1237-1239)Gag>Tag	p.E413*	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Nonsense_Mutation_p.E235*	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	413						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCAGCCTCCTCCCCGTGCATC	0.552000													9	44					3.86212e-05	4.6213e-05	1	1	0
CCDC14	64770	broad.mit.edu	37	3	123666039	123666039	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:123666039T>A	ENST00000485727.1	-	4	4948	c.356A>T	c.(355-357)gAc>gTc	p.D119V	CCDC14_ENST00000433542.2_Missense_Mutation_p.D278V|CCDC14_ENST00000310351.4_Missense_Mutation_p.D159V|CCDC14_ENST00000488653.2_Missense_Mutation_p.D319V|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.D119V			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	319						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		AGCTGATATGTCAGTTTTGGG	0.398000													7	26					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:7578457C>A	ENST00000420246.2	-	5	605	c.473G>T	c.(472-474)cGc>cTc	p.R158L	TP53_ENST00000359597.4_Missense_Mutation_p.R158L|TP53_ENST00000455263.2_Missense_Mutation_p.R158L|TP53_ENST00000269305.4_Missense_Mutation_p.R158L|TP53_ENST00000413465.2_Missense_Mutation_p.R158L|TP53_ENST00000445888.2_Missense_Mutation_p.R158L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)		GGCCATGGCGCGGACGCGGGT	0.627000		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)			48	43					1.81118e-26	3.4952e-26	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77616483	77616483	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:77616483G>C	ENST00000521891.2	+	2	608	c.160G>C	c.(160-162)Gat>Cat	p.D54H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D54H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D54H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D54H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	54						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)			CCTGAAAACGGATGAGCGCAA	0.507000										HNSCC(33;0.089)			43	37					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114803929	114803929	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:114803929G>T	ENST00000526441.1	-	7	1022	c.1023C>A	c.(1021-1023)taC>taA	p.Y341*	TBX5_ENST00000349716.5_Intron|TBX5_ENST00000405440.2_Intron|TBX5_ENST00000310346.4_Intron			Q99593	TBX5_HUMAN	T-box 5	0					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		AAAGGAAAAGGTAAGAAAGAA	0.398000													11	24					1.58986e-06	2.03673e-06	1	1	0
HTR1A	3350	broad.mit.edu	37	5	63257256	63257256	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:63257256C>A	ENST00000323865.3	-	1	524	c.291G>T	c.(289-291)caG>caT	p.Q97H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	97					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGTTGAGCACCTGATACAGCG	0.592000													7	51					0.0293803	0.0305596	1	1	0
COL1A1	1277	broad.mit.edu	37	17	48269889	48269889	+	Splice_Site	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:48269889C>A	ENST00000225964.5	-	29	2048	c.1929_splice	c.e29-1	p.G644_splice		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	644	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CCAGGGAGACCCTGTAGGTGG	0.577000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						29	32					7.76418e-22	1.42842e-21	1	1	0
TRAV18	28665	broad.mit.edu	37	14	22471659	22471659	+	RNA	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:22471659G>T	ENST00000390446.3	+	0	187																											CCAGACAGAAGGCCCAGTTAC	0.453000													8	45					5.18039e-06	6.4898e-06	1	1	0
NTNG2	84628	broad.mit.edu	37	9	135073902	135073902	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:135073902C>A	ENST00000393229.3	+	3	1539	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	NTNG2_ENST00000393228.4_Silent_p.R255R|NTNG2_ENST00000360670.3_Silent_p.R255R|NTNG2_ENST00000372179.3_Silent_p.R255R	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	255	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCTGCGCATGCGGCTGCTGCG	0.632000													7	84					0.248553	0.250486	1	1	0
LPHN3	23284	broad.mit.edu	37	4	62903462	62903462	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:62903462A>T	ENST00000512091.1	+	23	4148	c.3401A>T	c.(3400-3402)tAt>tTt	p.Y1134F	LPHN3_ENST00000509896.1_Missense_Mutation_p.Y1202F|LPHN3_ENST00000514996.1_Missense_Mutation_p.Y1125F|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y1134F|LPHN3_ENST00000511324.1_Missense_Mutation_p.Y1193F|LPHN3_ENST00000514157.1_Missense_Mutation_p.Y1125F|LPHN3_ENST00000507164.1_Missense_Mutation_p.Y1193F|LPHN3_ENST00000545650.1_Missense_Mutation_p.Y1134F|LPHN3_ENST00000508693.1_Missense_Mutation_p.Y1202F|LPHN3_ENST00000514591.1_Missense_Mutation_p.Y1134F|LPHN3_ENST00000506746.1_Missense_Mutation_p.Y1193F|LPHN3_ENST00000507625.1_Missense_Mutation_p.Y1193F|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y1202F|LPHN3_ENST00000506700.1_Missense_Mutation_p.Y1125F|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y1134F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1112					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CGAAAAGAGTATGGGAAATGC	0.393000													16	26					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182347373	182347373	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:182347373G>T	ENST00000397033.2	+	9	1466	c.1036G>T	c.(1036-1038)Ggc>Tgc	p.G346C		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	346					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)	CATCAACTCTGGCTCGGTATG	0.458000													21	78					1.10923e-09	1.60715e-09	1	1	0
ATP1A2	477	broad.mit.edu	37	1	160106048	160106048	+	Silent	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:160106048C>T	ENST00000361216.3	+	18	2540	c.2451C>T	c.(2449-2451)atC>atT	p.I817I	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.I817I	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	817					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCCTGCCATCTCCTTGGCCT	0.542000													9	87					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133403028	133403028	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:133403028G>C	ENST00000329321.3	+	2	1680	c.1211G>C	c.(1210-1212)aGa>aCa	p.R404T	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	404						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTGCAAGGAGAACTGAGAAG	0.602000													27	98					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935306	30935306	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:30935306C>A	ENST00000355537.3	+	2	984	c.837C>A	c.(835-837)tgC>tgA	p.C279*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTACCTTCTGCAAGGGCAAGT	0.672000													11	33					4.68919e-08	6.38603e-08	1	1	0
HIST1H4B	8366	broad.mit.edu	37	6	26027237	26027237	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:26027237C>G	ENST00000377364.3	-	1	243	c.244G>C	c.(244-246)Gtc>Ctc	p.V82L		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	82					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						ATGGCAGTGACAGTCTTGCGC	0.537000											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	36					0	0	1	0	0
MIOX	55586	broad.mit.edu	37	22	50926118	50926118	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr22:50926118A>T	ENST00000395732.3	+	3	146	c.124A>T	c.(124-126)Acc>Tcc	p.T42S	MIOX_ENST00000395733.3_Missense_Mutation_p.T42S|MIOX_ENST00000216075.6_Missense_Mutation_p.T42S			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	42					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|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)		CCGTGTCTTCACCACCTACAA	0.667000													9	30					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179255867	179255867	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:179255867T>A	ENST00000190611.4	+	22	2745	c.2369T>A	c.(2368-2370)gTg>gAg	p.V790E	OSBPL6_ENST00000409631.1_Missense_Mutation_p.V754E|OSBPL6_ENST00000359685.3_Missense_Mutation_p.V754E|OSBPL6_ENST00000392505.2_Missense_Mutation_p.V815E|OSBPL6_ENST00000315022.2_Missense_Mutation_p.V794E|OSBPL6_ENST00000409045.3_Missense_Mutation_p.V759E	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	790					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GGGAAGGCGGTGTACCGGCTG	0.498000													9	82					0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118220584	118220584	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:118220584C>A	ENST00000369230.3	+	6	818	c.672C>A	c.(670-672)atC>atA	p.I224I		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	224					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CAGCTCGCATCCTCTTTGAGC	0.413000													8	45					1.06961e-07	1.43088e-07	1	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58190208	58190208	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:58190208C>A	ENST00000318203.5	+	5	1934	c.1237C>A	c.(1237-1239)Cgc>Agc	p.R413S		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	413					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACATACCACCGCCATATGAG	0.458000													13	43					9.31168e-06	1.16012e-05	1	1	0
JAKMIP2	9832	broad.mit.edu	37	5	147023660	147023660	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:147023660C>A	ENST00000265272.5	-	7	1652	c.1185G>T	c.(1183-1185)caG>caT	p.Q395H	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.Q395H|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.Q353H	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	395						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAATGACCTGAAGTTTTA	0.383000													7	17					0.00198382	0.00219698	1	1	0
EGFLAM	133584	broad.mit.edu	37	5	38370498	38370498	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:38370498G>A	ENST00000322350.5	+	6	992	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	EGFLAM_ENST00000354891.3_Missense_Mutation_p.V216M	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	216	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCAGTTTGCCGTGAGGGCAAT	0.567000													6	66					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416925	105416925	+	Silent	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:105416925C>G	ENST00000333244.5	-	7	4982	c.4863G>C	c.(4861-4863)ctG>ctC	p.L1621L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1621						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)			CCATGCTGGACAGAGACATCT	0.617000													33	234					0	0	1	0	0
MPPED2	744	broad.mit.edu	37	11	30435838	30435838	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:30435838G>T	ENST00000448418.2	-	6	1063	c.703C>A	c.(703-705)Ctg>Atg	p.L235M	MPPED2_ENST00000358117.5_Missense_Mutation_p.L235M|MPPED2_ENST00000524667.1_5'UTR	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	235					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						GTGTTTAACAGCTCCACACAG	0.448000													5	39					0.00198382	0.00219698	1	1	0
F2	2147	broad.mit.edu	37	11	46748302	46748302	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:46748302G>T	ENST00000311907.5	+	9	1101	c.1045G>T	c.(1045-1047)Gac>Tac	p.D349Y	F2_ENST00000530231.1_Missense_Mutation_p.D349Y	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	349				D -> N (in Ref. 10; AA sequence).	activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GTCGCTGGAGGACAAAACCGA	0.612000													28	41					3.73808e-20	6.6741e-20	1	1	0
BDP1	55814	broad.mit.edu	37	5	70845414	70845414	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:70845414G>C	ENST00000358731.4	+	34	7239	c.6976G>C	c.(6976-6978)Gaa>Caa	p.E2326Q	BDP1_ENST00000380675.2_Intron	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2326					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)		AGTGAATACCGAAGAAAGGGG	0.413000													7	19					0	0	1	0	0
R3HDML	140902	broad.mit.edu	37	20	42969881	42969881	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr20:42969881C>G	ENST00000217043.2	+	2	479	c.307C>G	c.(307-309)Cag>Gag	p.Q103E		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	103						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CTGGGCCACCCAGTGCATCTG	0.592000													6	70					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118949475	118949475	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:118949475G>A	ENST00000328252.3	+	2	827	c.458G>A	c.(457-459)tGg>tAg	p.W153*		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	153					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GACCGAGGATGGGTCGTGGGC	0.478000													10	39					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62903464	62903464	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:62903464G>A	ENST00000512091.1	+	23	4150	c.3403G>A	c.(3403-3405)Ggg>Agg	p.G1135R	LPHN3_ENST00000509896.1_Missense_Mutation_p.G1203R|LPHN3_ENST00000514996.1_Missense_Mutation_p.G1126R|LPHN3_ENST00000508946.1_Missense_Mutation_p.G1135R|LPHN3_ENST00000511324.1_Missense_Mutation_p.G1194R|LPHN3_ENST00000514157.1_Missense_Mutation_p.G1126R|LPHN3_ENST00000507164.1_Missense_Mutation_p.G1194R|LPHN3_ENST00000545650.1_Missense_Mutation_p.G1135R|LPHN3_ENST00000508693.1_Missense_Mutation_p.G1203R|LPHN3_ENST00000514591.1_Missense_Mutation_p.G1135R|LPHN3_ENST00000506746.1_Missense_Mutation_p.G1194R|LPHN3_ENST00000507625.1_Missense_Mutation_p.G1194R|LPHN3_ENST00000506720.1_Missense_Mutation_p.G1203R|LPHN3_ENST00000506700.1_Missense_Mutation_p.G1126R|LPHN3_ENST00000504896.1_Missense_Mutation_p.G1135R			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1113					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AAAAGAGTATGGGAAATGCCT	0.398000													16	25					0	0	1	0	0
ZNF529	57711	broad.mit.edu	37	19	37038046	37038046	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:37038046G>C	ENST00000334116.7	-	6	1709	c.1099C>G	c.(1099-1101)Cat>Gat	p.H367D	ZNF529_ENST00000591340.1_Missense_Mutation_p.H472D	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TCACCACTATGAATTCTTTGA	0.383000													6	13					0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58020606	58020606	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:58020606C>G	ENST00000341156.4	-	11	2107	c.1523G>C	c.(1522-1524)gGa>gCa	p.G508A	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.G453A	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	508					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTCCAGTGATCCTGGGTAACG	0.582000													29	70					0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99337071	99337071	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:99337071G>T	ENST00000376503.5	-	23	2089	c.2034C>A	c.(2032-2034)atC>atA	p.I678I		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	678					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	ATTGAGCTTCGATCTCCGCTG	0.443000													9	36					2.74318e-10	4.09895e-10	1	1	0
IL1R2	7850	broad.mit.edu	37	2	102626066	102626066	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:102626066G>C	ENST00000332549.3	+	3	339	c.110G>C	c.(109-111)cGg>cCg	p.R37P	IL1R2_ENST00000441002.1_Missense_Mutation_p.R37P|IL1R2_ENST00000393414.2_Missense_Mutation_p.R37P	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	37	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	p.R37L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CATTACAAGCGGGAGTTCAGG	0.592000													35	158					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501456	90501456	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:90501456G>T	ENST00000325643.5	+	4	2120	c.2054G>T	c.(2053-2055)gGg>gTg	p.G685V		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GACTTTGCAGGGAAGGGCAGG	0.617000													8	50					0.000274275	0.000315295	1	1	0
SORCS2	57537	broad.mit.edu	37	4	7668859	7668859	+	Silent	SNP	A	A	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:7668859A>C	ENST00000507866.2	+	8	1189	c.1080A>C	c.(1078-1080)tcA>tcC	p.S360S	SORCS2_ENST00000329016.9_Silent_p.S188S	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	360						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						AGGCAACATCAGCAAACCAGA	0.438000													34	73					0	0	1	0	0
WDR53	348793	broad.mit.edu	37	3	196281205	196281205	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:196281205C>A	ENST00000332629.5	-	4	1521	c.954G>T	c.(952-954)aaG>aaT	p.K318N	WDR53_ENST00000429115.1_Missense_Mutation_p.K157N|WDR53_ENST00000433160.1_Missense_Mutation_p.K159N	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	318										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CAATATTTAGCTTTGGTAAAA	0.383000													12	26					0.000978159	0.0011021	1	1	0
GPR12	2835	broad.mit.edu	37	13	27333299	27333299	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:27333299C>G	ENST00000405846.3	-	2	887	c.666G>C	c.(664-666)aaG>aaC	p.K222N	GPR12_ENST00000381436.2_Missense_Mutation_p.K222N	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	222						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TCATCACAATCTTACAGATCT	0.567000													11	43					0	0	1	0	0
C7orf34	135927	broad.mit.edu	37	7	142636751	142636751	+	Silent	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:142636751A>G	ENST00000409607.3	+	1	149	c.108A>G	c.(106-108)gcA>gcG	p.A36A		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	11						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					TCTGCAGGGCAGTGTTCCTGG	0.652000													17	31					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073156	9073156	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:9073156G>T	ENST00000397910.4	-	3	14493	c.14290C>A	c.(14290-14292)Ccg>Acg	p.P4764T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4766	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						TGCCATTGCGGTGTGAAAGCA	0.488000													12	42					0.00136819	0.00152451	1	1	0
H2AFY2	55506	broad.mit.edu	37	10	71868845	71868845	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:71868845C>T	ENST00000373255.4	+	8	1099	c.835C>T	c.(835-837)Cct>Tct	p.P279S	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	279	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CTGTCACATCCCTCAGTGGGG	0.532000													12	56					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189862992	189862992	+	Splice_Site	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:189862992G>T	ENST00000304636.3	+	28	2094	c.1923_splice	c.e28-1	p.G642_splice	COL3A1_ENST00000317840.5_Splice_Site_p.G642_splice	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	642	Triple-helical region.				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	p.G642C(1)		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)	TTCTTTCTAGGGCTTGCCTGG	0.353000													6	16					0.0215528	0.0224952	1	1	0
RUSC2	9853	broad.mit.edu	37	9	35547720	35547720	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:35547720C>A	ENST00000455600.1	+	2	1771	c.1202C>A	c.(1201-1203)aCc>aAc	p.T401N		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	401						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AAACTTGTCACCTGTGACCTA	0.557000													16	102					1.3612e-06	1.7562e-06	1	1	0
KRT18P55	284085	broad.mit.edu	37	17	26604114	26604114	+	RNA	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:26604114T>A	ENST00000577198.1	-	0	847					NR_028334.1																						AGGCTTTGCATGGTTTCCTTC	0.592000													57	38					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34123632	34123632	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:34123632C>T	ENST00000373381.4	-	27	4537	c.4361G>A	c.(4360-4362)gGc>gAc	p.G1454D	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.G327D	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1414	CUB 9.					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)				CAGCGCGTAGCCAGGGTCACA	0.587000													19	99					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98369518	98369518	+	Silent	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:98369518C>G	ENST00000339364.5	-	14	2240	c.2121G>C	c.(2119-2121)acG>acC	p.T707T	PIK3AP1_ENST00000371109.3_Silent_p.T306T|PIK3AP1_ENST00000371110.2_Silent_p.T529T	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	707						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTCTCAGCTCCGTCCTAGGGG	0.582000													18	102					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11898431	11898431	+	Missense_Mutation	SNP	G	G	A	rs149322151		TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:11898431G>A	ENST00000346436.6	+	21	2387	c.2335G>A	c.(2335-2337)Gag>Aag	p.E779K	CLCN6_ENST00000376487.3_Missense_Mutation_p.E757K|CLCN6_ENST00000376496.3_Missense_Mutation_p.E779K|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	779					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CGAGATGGCCGAGGACTACCC	0.657000											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	73					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55583042	55583042	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:55583042C>T	ENST00000361849.3	-	34	4844	c.4450G>A	c.(4450-4452)Gtg>Atg	p.V1484M	PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V1479M|PCDH15_ENST00000395433.1_Missense_Mutation_p.V1459M|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.V1413M|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.V1442M|PCDH15_ENST00000320301.6_Missense_Mutation_p.V1482M|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1482					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)				AAGGGCATCACAACTTGTTGA	0.378000										HNSCC(58;0.16)			5	26					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178700001	178700001	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:178700001G>T	ENST00000251582.7	-	3	700	c.599C>A	c.(598-600)gCg>gAg	p.A200E	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.A200E	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	200					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGCCTCCTGCGCCGCCAGCCC	0.627000													16	60					9.16793e-09	1.28125e-08	1	1	0
SCNN1G	6340	broad.mit.edu	37	16	23197658	23197658	+	Silent	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:23197658G>C	ENST00000300061.2	+	2	209	c.66G>C	c.(64-66)gcG>gcC	p.A22A		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	22					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)	GCCCTCAGGCGCCGACCATTA	0.612000													15	50					0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595233	44595233	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:44595233G>T	ENST00000372299.3	+	2	348	c.290G>T	c.(289-291)gGt>gTt	p.G97V	KLF17_ENST00000476802.1_Splice_Site	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	97					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)					CCTGAGCGTGGTATGAGCTAC	0.572000													45	68					5.34276e-22	9.84935e-22	1	1	0
ETNK1	55500	broad.mit.edu	37	12	22778506	22778506	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:22778506G>T	ENST00000266517.4	+	1	498	c.409G>T	c.(409-411)Gag>Tag	p.E137*	ETNK1_ENST00000335148.3_Nonsense_Mutation_p.E137*	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	137					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGACCCCCAGGAGGTGACCCT	0.657000													5	3					0.014758	0.0155645	1	1	0
C5orf64	285668	broad.mit.edu	37	5	60999814	60999814	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:60999814G>A	ENST00000505642.1	+	4	422	c.347G>A	c.(346-348)tGt>tAt	p.C116Y	C5orf64_ENST00000313303.7_Missense_Mutation_p.C116Y|C5orf64_ENST00000510414.1_3'UTR	NM_173667.2	NP_775938.1	Q2M2E5	CE064_HUMAN	chromosome 5 open reading frame 64	116						extracellular region				breast(1)	1						TTAGCTGACTGTGTTCTAAAA	0.443000													4	17					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193153456	193153456	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:193153456C>A	ENST00000342695.4	-	24	3072	c.2750G>T	c.(2749-2751)gGt>gTt	p.G917V	ATP13A4_ENST00000392443.3_Missense_Mutation_p.G898V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	917					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)		CAGCAGAACACCAACATACTG	0.428000													5	47					1	1	1	1	0
ATP11C	286410	broad.mit.edu	37	X	138832249	138832249	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:138832249C>A	ENST00000370557.1	-	24	3781	c.2754G>T	c.(2752-2754)ctG>ctT	p.L918L	ATP11C_ENST00000359686.2_Silent_p.L924L|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Silent_p.L924L|ATP11C_ENST00000327569.3_Silent_p.L924L|ATP11C_ENST00000361648.2_Silent_p.L924L			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	924					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GACTATAGGCCAGGATGGGCA	0.383000													30	22					1.30897e-18	2.28315e-18	1	1	0
OR5M1	390168	broad.mit.edu	37	11	56380696	56380696	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:56380696C>G	ENST00000526538.1	-	1	282	c.283G>C	c.(283-285)Gct>Cct	p.A95P		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	95					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						AAGCATCCAGCGTAGGAGATG	0.453000													15	31					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23967163	23967163	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr20:23967163A>G	ENST00000335694.4	-	2	290	c.86T>C	c.(85-87)tTc>tCc	p.F29S	GGTLC1_ENST00000278765.4_Missense_Mutation_p.F29S|GGTLC1_ENST00000286890.4_Missense_Mutation_p.F29S	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	29							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CGGCATGTAGAACTCGGGCTT	0.617000													22	41					0	0	1	0	0
NOV	4856	broad.mit.edu	37	8	120435355	120435355	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:120435355A>G	ENST00000259526.3	+	5	1284	c.1057A>G	c.(1057-1059)Acc>Gcc	p.T353A	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	353					regulation of cell growth		growth factor activity|insulin-like growth factor binding	p.T353A(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTGAAGACTACCAGAGGGAA	0.483000													14	130					0	0	1	0	0
BARHL1	56751	broad.mit.edu	37	9	135458480	135458480	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:135458480G>A	ENST00000263610.2	+	1	909	c.296G>A	c.(295-297)aGg>aAg	p.R99K	BARHL1_ENST00000542090.1_Missense_Mutation_p.R99K	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	99						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		TTTCTGATCAGGGACATCCTT	0.701000													32	219					0	0	1	0	0
HOMEZ	57594	broad.mit.edu	37	14	23745935	23745935	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:23745935C>A	ENST00000357460.5	-	2	666	c.502G>T	c.(502-504)Ggt>Tgt	p.G168C	HOMEZ_ENST00000561013.1_Missense_Mutation_p.G170C|HOMEZ_ENST00000431326.2_Missense_Mutation_p.G170C	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	168	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTTGGAGGACCTATTCCAATA	0.532000													34	105					2.68265e-12	4.21115e-12	1	1	0
ZCCHC16	340595	broad.mit.edu	37	X	111698580	111698580	+	Silent	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:111698580G>C	ENST00000340433.2	+	1	854	c.624G>C	c.(622-624)ctG>ctC	p.L208L		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	208							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTCCAGACCTGATCACTCAGT	0.478000													18	27					0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15881953	15881953	+	RNA	SNP	A	A	G	rs4807986	by1000genomes	TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:15881953A>G	ENST00000587443.2	-	0	944					NR_033864.1													p.W142fs*32(2)									CGGAAGCGCCACCCGTCATGG	0.537000													6	52					0	0	1	0	0
MAP1LC3C	440738	broad.mit.edu	37	1	242159486	242159486	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:242159486G>T	ENST00000357246.3	-	4	487	c.423C>A	c.(421-423)gaC>gaA	p.D141E		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	141					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGCAGGGTCTGTCCTCAAGGC	0.557000													7	72					0.0381472	0.0394522	1	1	0
SLITRK2	84631	broad.mit.edu	37	X	144905083	144905083	+	Silent	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:144905083C>G	ENST00000370490.1	+	1	5395	c.1140C>G	c.(1138-1140)ctC>ctG	p.L380L	SLITRK2_ENST00000434188.2_Silent_p.L380L|SLITRK2_ENST00000413937.2_Silent_p.L380L|SLITRK2_ENST00000447897.2_Silent_p.L380L|SLITRK2_ENST00000428560.2_Silent_p.L380L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	380						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)					CAAAGAAACTCTACCTAACAG	0.423000													22	16					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207425878	207425878	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:207425878G>T	ENST00000264377.3	+	12	1524	c.1196G>T	c.(1195-1197)aGc>aTc	p.S399I	ADAM23_ENST00000374416.1_Missense_Mutation_p.S399I|ADAM23_ENST00000374415.3_Missense_Mutation_p.S399I	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	399	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TATAAGAGAAGCAGTCTGAGT	0.408000													3	23					0.115264	0.117598	1	1	0
IRF8	3394	broad.mit.edu	37	16	85953807	85953807	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:85953807C>A	ENST00000268638.5	+	8	1503	c.1081C>A	c.(1081-1083)Cgc>Agc	p.R361S	IRF8_ENST00000562492.1_Missense_Mutation_p.R157S	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	361					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)				GGCCCCCTTGCGCTCCAAACT	0.507000													18	19					6.49762e-13	1.03574e-12	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181480531	181480531	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:181480531G>A	ENST00000526775.1	+	3	562	c.397G>A	c.(397-399)Ggg>Agg	p.G133R	CACNA1E_ENST00000367573.2_Missense_Mutation_p.G133R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G133R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G133R|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G84R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G84R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	133					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTATTTCATTGGGATCTTTTG	0.488000													15	230					0	0	1	0	0
S100A7	6278	broad.mit.edu	37	1	153431413	153431413	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:153431413T>A	ENST00000368723.3	-	2	187	c.77A>T	c.(76-78)aAg>aTg	p.K26M	S100A7_ENST00000368722.1_Missense_Mutation_p.K26M	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	26	EF-hand 1.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTCTCAATCTTGTCATCACG	0.458000													30	98					0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237306	29237306	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:29237306G>A	ENST00000382535.3	+	2	1190	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	FOXG1_ENST00000313071.4_Missense_Mutation_p.R274Q			P55316	FOXG1_HUMAN	forkhead box G1	274				Missing (in Ref. 1; CAA52240 and 2; CAA55038).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGCAAGCTGCGGCGCCGCTCC	0.701000													17	101					0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97578796	97578796	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:97578796G>C	ENST00000369261.4	+	9	1940	c.1577G>C	c.(1576-1578)tGg>tCg	p.W526S	KLHL32_ENST00000536676.1_Missense_Mutation_p.W490S|KLHL32_ENST00000539200.1_Missense_Mutation_p.W457S|KLHL32_ENST00000544166.1_Missense_Mutation_p.W82S	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	526										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		ACTGACCAGTGGACACGTTGT	0.398000													23	45					0	0	1	0	0
LAMP1	3916	broad.mit.edu	37	13	113965058	113965058	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:113965058G>T	ENST00000332556.4	+	4	632	c.438G>T	c.(436-438)agG>agT	p.R146S	LAMP1_ENST00000397181.3_Intron	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	146	First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CTGACATCAGGGCAGATATAG	0.373000													19	28					4.96729e-08	6.74451e-08	1	1	0
KIF1B	23095	broad.mit.edu	37	1	10355738	10355738	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:10355738A>T	ENST00000377086.1	+	19	1893	c.1691A>T	c.(1690-1692)gAg>gTg	p.E564V	KIF1B_ENST00000377083.1_Missense_Mutation_p.E518V|KIF1B_ENST00000263934.6_Missense_Mutation_p.E518V|KIF1B_ENST00000377081.1_Missense_Mutation_p.E564V|KIF1B_ENST00000377093.4_Missense_Mutation_p.E518V			O60333	KIF1B_HUMAN	kinesin family member 1B	564	FHA.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCAGATGCTGAGCGGCGCCAG	0.493000													11	76					0	0	1	0	0
TMOD1	7111	broad.mit.edu	37	9	100308537	100308537	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:100308537G>T	ENST00000395211.2	+	3	327	c.191G>T	c.(190-192)aGa>aTa	p.R64I	TMOD1_ENST00000259365.3_Missense_Mutation_p.R64I	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN	tropomodulin 1	64	Tropomyosin-binding (Potential).				muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		CCCTTTAAAAGAGAGGAGCTC	0.537000													11	66					1.58986e-06	2.03673e-06	1	1	0
ZNF695	57116	broad.mit.edu	37	1	247150745	247150745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:247150745C>A	ENST00000339986.7	-	4	1219	c.1072G>T	c.(1072-1074)Gga>Tga	p.G358*	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	358					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	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;0.00271)			AAGGCTTTTCCACATTCTTCA	0.388000													5	21					1.024e-07	1.38415e-07	1	1	0
NPFFR1	64106	broad.mit.edu	37	10	72025849	72025849	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:72025849C>A	ENST00000277942.5	-	2	313	c.306G>T	c.(304-306)gtG>gtT	p.V102V		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	102						integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						TGAGGTTGTCCACAAGGGTGG	0.537000													6	45					0.217242	0.219419	1	1	0
NLGN1	22871	broad.mit.edu	37	3	173998845	173998845	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:173998845C>A	ENST00000457714.1	+	7	2653	c.2224C>A	c.(2224-2226)Cat>Aat	p.H742N	NLGN1_ENST00000545397.1_Missense_Mutation_p.H742N|NLGN1_ENST00000401917.3_Missense_Mutation_p.H782N|NLGN1_ENST00000361589.4_Missense_Mutation_p.H742N	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	759					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGATTTGGATCATGAATGTGA	0.488000													14	35					1.3612e-06	1.7562e-06	1	1	0
CTAGE1	64693	broad.mit.edu	37	18	19995861	19995861	+	Silent	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr18:19995861A>G	ENST00000391403.2	-	1	2017	c.1914T>C	c.(1912-1914)aaT>aaC	p.N638N		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	638						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AATTACCAAGATTATCTTTGG	0.418000													24	111					0	0	1	0	0
TFDP1	7027	broad.mit.edu	37	13	114287513	114287513	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:114287513G>C	ENST00000375370.5	+	6	599	c.387G>C	c.(385-387)agG>agC	p.R129S	TFDP1_ENST00000538138.1_Missense_Mutation_p.R34S|TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000544902.1_Missense_Mutation_p.R34S	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	129					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			AGGTGCAGAGGAAAGGGACCA	0.507000										TSP Lung(29;0.18)			10	39					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41800332	41800332	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:41800332A>T	ENST00000263800.6	-	9	1280	c.1184T>A	c.(1183-1185)cTc>cAc	p.L395H	LTK_ENST00000561619.1_Missense_Mutation_p.L77H|LTK_ENST00000453182.2_Missense_Mutation_p.L334H|LTK_ENST00000355166.5_Missense_Mutation_p.L334H	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	395					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AGCCAGCTGGAGCTCTGCCTG	0.557000										TSP Lung(18;0.14)			7	40					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233668	21233668	+	Silent	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:21233668A>T	ENST00000233242.1	-	26	6199	c.6072T>A	c.(6070-6072)atT>atA	p.I2024I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2024					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)	GTGGCACTTTAATTGGGGAGT	0.423000													9	63					0	0	1	0	0
MSI2	124540	broad.mit.edu	37	17	55693446	55693446	+	Splice_Site	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:55693446G>T	ENST00000284073.2	+	9	861		c.e9+1		MSI2_ENST00000579180.1_Splice_Site|MSI2_ENST00000416426.2_Splice_Site|MSI2_ENST00000442934.2_Splice_Site|MSI2_ENST00000322684.3_Splice_Site|MSI2_ENST00000579505.1_Splice_Site	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2							cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		GGGATGCTGGGTGAGTCTGGA	0.607000			T	HOXA9	CML								47	65					1.15181e-12	1.82958e-12	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81746426	81746426	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:81746426T>C	ENST00000356860.3	-	6	798	c.460A>G	c.(460-462)Aat>Gat	p.N154D	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.N154D|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.N154D	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	154						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CGTCCAAAATTAGCATCTTCA	0.358000													23	13					0	0	1	0	0
RNASE8	122665	broad.mit.edu	37	14	21526351	21526351	+	Silent	SNP	C	C	T	rs77979750	by1000genomes	TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:21526351C>T	ENST00000308227.2	+	1	371	c.300C>T	c.(298-300)caC>caT	p.H100H	NDRG2_ENST00000403829.3_Intron	NM_138331.1	NP_612204.1	Q8TDE3	RNAS8_HUMAN	ribonuclease, RNase A family, 8	100						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0188)		ACCAGAGCCACGGGCCCATGT	0.552000													32	85					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15212252	15212252	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:15212252G>T	ENST00000379554.3	+	6	772	c.726G>T	c.(724-726)ctG>ctT	p.L242L	INSC_ENST00000530161.1_Silent_p.L195L|INSC_ENST00000525218.1_Silent_p.L195L|INSC_ENST00000528567.1_Silent_p.L195L|INSC_ENST00000379556.3_Silent_p.L195L|INSC_ENST00000424273.1_Silent_p.L195L|INSC_ENST00000447214.2_3'UTR	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	242					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CTTAGGCACTGGTGAGAAAAA	0.517000													13	76					1.05317e-09	1.53327e-09	1	1	0
SEMA3D	223117	broad.mit.edu	37	7	84727258	84727258	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:84727258T>A	ENST00000284136.6	-	2	218	c.175A>T	c.(175-177)Att>Ttt	p.I59F	SEMA3D_ENST00000444867.1_Missense_Mutation_p.I59F	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	59	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AAAAAGGGAATACAGCTATTT	0.383000													29	43					0	0	1	0	0
CMA1	1215	broad.mit.edu	37	14	24974787	24974787	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:24974787G>C	ENST00000250378.3	-	5	708	c.679C>G	c.(679-681)Cct>Gct	p.P227A	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Missense_Mutation_p.P116A	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	227	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)		AAGACAGCAGGGGGCTTTGCA	0.592000													31	47					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323838	152323838	+	Missense_Mutation	SNP	C	C	T	rs149503979	byFrequency	TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:152323838C>T	ENST00000388718.5	-	3	6496	c.6424G>A	c.(6424-6426)Ggg>Agg	p.G2142R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2142							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGTCTCCCGTGAATGGCA	0.517000													253	237					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43511892	43511892	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:43511892C>T	ENST00000039989.4	+	22	3148	c.3134C>T	c.(3133-3135)gCg>gTg	p.A1045V		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1045							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTGCACTATGCGCCACACCAG	0.567000													7	48					0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210014313	210014313	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:210014313G>T	ENST00000491415.2	+	8	1455	c.1398G>T	c.(1396-1398)aaG>aaT	p.K466N		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	466					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GAGAGAAGAAGAGAGATTTTG	0.483000													4	53					0.00909568	0.00974	1	1	0
ARMC3	219681	broad.mit.edu	37	10	23244735	23244735	+	Splice_Site	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:23244735G>T	ENST00000298032.5	+	4	250		c.e4-1		ARMC3_ENST00000464017.1_Splice_Site|ARMC3_ENST00000376528.4_Splice_Site|ARMC3_ENST00000409983.3_Splice_Site|ARMC3_ENST00000409049.3_Splice_Site	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3								binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTGATGTCAGGTGAGGAAAA	0.388000													22	7					7.87624e-14	1.28949e-13	1	1	0
CASC1	55259	broad.mit.edu	37	12	25302609	25302609	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:25302609C>A	ENST00000354189.5	-	7	747	c.712G>T	c.(712-714)Gag>Tag	p.E238*	CASC1_ENST00000537577.1_Nonsense_Mutation_p.E62*|CASC1_ENST00000395987.3_Nonsense_Mutation_p.E180*|CASC1_ENST00000545133.1_Nonsense_Mutation_p.E115*|CASC1_ENST00000395990.2_Nonsense_Mutation_p.E134*|CASC1_ENST00000320267.9_Nonsense_Mutation_p.E174*|CASC1_ENST00000557684.1_5'UTR	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	174										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TGAAGGAGCTCCTGCAGTTGT	0.294000													8	14					0.00448238	0.00491005	1	1	0
ANKFY1	51479	broad.mit.edu	37	17	4111310	4111310	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:4111310T>G	ENST00000341657.4	-	6	685	c.650A>C	c.(649-651)aAg>aCg	p.K217T	ANKFY1_ENST00000570535.1_Missense_Mutation_p.K259T|ANKFY1_ENST00000433651.1_Missense_Mutation_p.K217T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.K217T	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	217						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTACTCTGTCTTGGATTTGAT	0.443000													8	70					0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36269490	36269490	+	Splice_Site	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:36269490A>T	ENST00000296604.3	-	4	754		c.e4+1		RANBP3L_ENST00000515759.1_Splice_Site|RANBP3L_ENST00000502994.1_Splice_Site	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like						intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			GGCTATACATACCTCCCTGGG	0.358000													6	59					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920654	4920654	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:4920654G>T	ENST00000433855.1	+	1	2313	c.1447G>T	c.(1447-1449)Ggg>Tgg	p.G483W	KCNA6_ENST00000280684.3_Missense_Mutation_p.G483W	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	483						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CGTCACTTGTGGGCAGCCTGC	0.607000										HNSCC(72;0.22)			18	46					1.33834e-09	1.92373e-09	1	1	0
GPR179	440435	broad.mit.edu	37	17	36484465	36484465	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:36484465G>A	ENST00000342292.4	-	11	5007	c.4987C>T	c.(4987-4989)Cca>Tca	p.P1663S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1663						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGAGGACGTGGTTGTGGGGAG	0.562000													60	57					0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52376808	52376808	+	Silent	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:52376808G>C	ENST00000301399.5	-	7	800	c.435C>G	c.(433-435)ctC>ctG	p.L145L	ZNF577_ENST00000420592.1_Intron|ZNF577_ENST00000451628.2_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GTAGGTCATTGAGCTGTGATT	0.443000													13	68					0	0	1	0	0
PSMB11	122706	broad.mit.edu	37	14	23512119	23512119	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:23512119C>A	ENST00000408907.2	+	1	744	c.685C>A	c.(685-687)Cgg>Agg	p.R229R		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	229					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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|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			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TTTCCACGTGCGGGAGAGTGG	0.627000													18	47					2.35188e-11	3.59723e-11	1	1	0
MAB21L2	10586	broad.mit.edu	37	4	151505034	151505034	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:151505034C>A	ENST00000317605.4	+	1	1958	c.853C>A	c.(853-855)Cac>Aac	p.H285N	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	285					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GTGCGAGAAACACCCACGAGA	0.637000													19	82					6.49762e-13	1.03574e-12	1	1	0
OR5A1	219982	broad.mit.edu	37	11	59211378	59211378	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:59211378C>A	ENST00000302030.2	+	1	762	c.737C>A	c.(736-738)tCg>tAg	p.S246*		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ACGTGTGCCTCGCATCTGATG	0.542000													49	109					4.10826e-27	7.94497e-27	1	1	0
RCBTB2	1102	broad.mit.edu	37	13	49089463	49089463	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:49089463C>A	ENST00000344532.3	-	6	650	c.227G>T	c.(226-228)gGc>gTc	p.G76V	RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000544492.1_5'UTR|RCBTB2_ENST00000430805.2_Missense_Mutation_p.G81V|RCBTB2_ENST00000544904.1_Missense_Mutation_p.G52V	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	76							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CCCCAAACAGCCACAGCAGTT	0.423000													12	80					0.0135373	0.0144451	1	1	0
SORCS3	22986	broad.mit.edu	37	10	106602618	106602618	+	Splice_Site	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:106602618G>A	ENST00000369701.3	+	2	922		c.e2+1			NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3							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)		CACTATGGAGGTAAGCAGATT	0.498000													11	27					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220342800	220342800	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:220342800G>T	ENST00000312358.7	+	22	5132	c.5000G>T	c.(4999-5001)cGc>cTc	p.R1667L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1667	Protein kinase 1.				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)		TTCGAGAGGCGCCGGGGACTG	0.612000													25	39					1.85244e-09	2.6501e-09	1	1	0
PGBD5	79605	broad.mit.edu	37	1	230472933	230472933	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:230472933G>T	ENST00000321327.2	-	6	1085	c.1086C>A	c.(1084-1086)aaC>aaA	p.N362K	PGBD5_ENST00000391860.1_Missense_Mutation_p.N217K|PGBD5_ENST00000525115.1_Missense_Mutation_p.N263K			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	263						integral to membrane		p.N362N(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGCCTGCCGCGTTCCGGCACA	0.572000													34	40					2.46105e-21	4.48228e-21	1	1	0
GALNT15	117248	broad.mit.edu	37	3	16217079	16217079	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:16217079G>T	ENST00000339732.5	+	1	924	c.421G>T	c.(421-423)Ggg>Tgg	p.G141W	GALNT15_ENST00000437509.1_Missense_Mutation_p.G141W|GALNT15_ENST00000470031.1_3'UTR	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		TGATGAGGACGGGGAGGTGTC	0.647000													10	30					0.00621372	0.00670933	1	1	0
PYDC2	152138	broad.mit.edu	37	3	191179105	191179105	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:191179105G>T	ENST00000518817.1	+	1	154	c.154G>T	c.(154-156)Ggg>Tgg	p.G52W		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	52	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						CAAGGCTAATGGGAAGCAACT	0.512000													12	59					1.5842e-08	2.19035e-08	1	1	0
NUP107	57122	broad.mit.edu	37	12	69103080	69103080	+	Silent	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:69103080A>T	ENST00000229179.4	+	9	1124	c.792A>T	c.(790-792)cgA>cgT	p.R264R	NUP107_ENST00000539906.1_Silent_p.R235R|NUP107_ENST00000378905.2_Silent_p.R113R	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	264					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CACTTGTTCGACAAAGTCAGG	0.299000													16	14					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61923939	61923939	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:61923939A>T	ENST00000332981.5	+	8	1391	c.1006A>T	c.(1006-1008)Agc>Tgc	p.S336C	PRKCH_ENST00000555082.1_Missense_Mutation_p.S175C	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	336					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		AAAGGAGAGCAGCAAAGAAGG	0.468000													19	40					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746342	77746342	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:77746342G>A	ENST00000409088.3	-	3	1067	c.653C>T	c.(652-654)tCc>tTc	p.S218F	LRRTM4_ENST00000409911.1_Missense_Mutation_p.S219F|LRRTM4_ENST00000409093.1_Missense_Mutation_p.S218F|LRRTM4_ENST00000409282.1_Missense_Mutation_p.S219F|LRRTM4_ENST00000409884.1_Missense_Mutation_p.S218F	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	218						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)		GTTGATCTTGGAAAACTGGTT	0.443000													4	23					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80729848	80729848	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:80729848C>A	ENST00000458043.2	+	38	4507	c.4501C>A	c.(4501-4503)Cct>Act	p.P1501T	OTOGL_ENST00000547103.1_Missense_Mutation_p.P1489T	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CGTGGAAATGCCTGACTGTGG	0.433000													5	9					5.9392e-07	7.76204e-07	1	1	0
PDGFC	56034	broad.mit.edu	37	4	157693841	157693841	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:157693841T>C	ENST00000502773.1	-	4	1190	c.700A>G	c.(700-702)Aga>Gga	p.R234G	PDGFC_ENST00000422544.2_Missense_Mutation_p.R234G|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000541126.1_Missense_Mutation_p.R71G|PDGFC_ENST00000542208.1_Missense_Mutation_p.R79G	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	234		Cleavage (Potential).			central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AGCTTACCTCTGGATTTTCTT	0.383000													3	19					0	0	1	0	0
ZFPL1	7542	broad.mit.edu	37	11	64853941	64853941	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:64853941C>T	ENST00000294258.3	+	4	421	c.269C>T	c.(268-270)aCg>aTg	p.T90M		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	90					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CCCCGAAACACGGCACCTGCC	0.612000													26	206					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24831611	24831611	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:24831611G>T	ENST00000395799.3	+	22	5361	c.5232G>T	c.(5230-5232)ttG>ttT	p.L1744F	TNRC6A_ENST00000315183.7_Missense_Mutation_p.L1695F|TNRC6A_ENST00000432286.2_Missense_Mutation_p.L222F	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1744	Sufficient for interaction with EIF2C2.				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)		AGCCACCCTTGTCTACGTGGG	0.542000													27	53					6.32553e-13	1.01186e-12	1	1	0
SERGEF	26297	broad.mit.edu	37	11	18028240	18028240	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:18028240C>G	ENST00000265965.5	-	3	401	c.250G>C	c.(250-252)Ggt>Cgt	p.G84R	RP1-59M18.2_ENST00000525523.1_RNA|SERGEF_ENST00000528200.1_Missense_Mutation_p.G84R|SERGEF_ENST00000532212.1_5'UTR|SERGEF_ENST00000532265.1_5'UTR	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	84					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						TCTGTGTGACCAAGCCCCAGT	0.483000													25	49					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52344173	52344173	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:52344173A>T	ENST00000354831.7	-	1	304	c.115T>A	c.(115-117)Tct>Act	p.S39T	NRD1_ENST00000544028.1_Intron|NRD1_ENST00000352171.7_Missense_Mutation_p.S39T	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	39					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						GCAGCAGCAGAGTCTTCGCAC	0.622000													5	28					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177142661	177142661	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:177142661C>A	ENST00000296525.3	-	4	588	c.475G>T	c.(475-477)Ggt>Tgt	p.G159C	ASB5_ENST00000512254.1_Missense_Mutation_p.G106C	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	159					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GCTTTGGCACCATACTCCAGA	0.493000													13	82					9.05144e-12	1.3962e-11	1	1	0
ANAPC7	51434	broad.mit.edu	37	12	110819591	110819591	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:110819591T>C	ENST00000455511.3	-	8	1200	c.1200A>G	c.(1198-1200)atA>atG	p.I400M	ANAPC7_ENST00000450008.2_Missense_Mutation_p.I400M	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	400					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						GTGCGAGCCGTATGGCCTCCC	0.483000													5	21					0	0	1	0	0
ACAP2	23527	broad.mit.edu	37	3	195027255	195027255	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:195027255C>A	ENST00000326793.6	-	13	1331	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	367					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						ATTCATCACCCTTCTCTCTAT	0.398000													11	64					1.08611e-07	1.44868e-07	1	1	0
GBA3	57733	broad.mit.edu	37	4	22729468	22729468	+	RNA	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:22729468C>A	ENST00000511446.1	+	0	61				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTGTCAAAAACAGTCGGTACA	0.403000													24	41					4.26978e-12	6.61998e-12	1	1	0
MAOB	4129	broad.mit.edu	37	X	43626802	43626802	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:43626802G>A	ENST00000378069.4	-	15	1621	c.1474C>T	c.(1474-1476)Ctg>Ttg	p.L492L	MAOB_ENST00000538942.1_3'UTR|MAOB_ENST00000536181.1_Silent_p.L476L	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	492					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	AGCCTGAGCAGGCCTGGCACG	0.522000													4	7					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89106598	89106598	+	Splice_Site	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:89106598A>T	ENST00000535633.1	-	12	1374		c.e12+1		NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TGTTCTACATACCTGTCCAGT	0.289000													7	47					0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20081688	20081688	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:20081688C>A	ENST00000379651.3	-	3	234	c.216G>T	c.(214-216)cgG>cgT	p.R72R	MAP7D2_ENST00000443379.3_Silent_p.R72R|MAP7D2_ENST00000379643.5_Silent_p.R72R|MAP7D2_ENST00000452324.3_Silent_p.R28R	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	72										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TCTGTTGCTCCCGAGCAGCTG	0.522000													9	31					3.09899e-07	4.10933e-07	1	1	0
OR2K2	26248	broad.mit.edu	37	9	114090329	114090329	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:114090329G>T	ENST00000374428.1	-	1	471	c.472C>A	c.(472-474)Ccg>Acg	p.P158T	OR2K2_ENST00000302681.1_Missense_Mutation_p.P129T			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	158					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						TATCTCAGCGGGTTACAAATG	0.552000													12	52					3.07112e-06	3.89037e-06	1	1	0
PML	5371	broad.mit.edu	37	15	74315342	74315342	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:74315342C>T	ENST00000565898.1	+	3	860	c.776C>T	c.(775-777)gCg>gTg	p.A259V	PML_ENST00000569965.1_Missense_Mutation_p.A259V|PML_ENST00000569477.1_Missense_Mutation_p.A259V|PML_ENST00000569161.1_3'UTR|PML_ENST00000567543.1_Missense_Mutation_p.A259V|PML_ENST00000436891.3_Missense_Mutation_p.A259V|PML_ENST00000435786.2_Missense_Mutation_p.A259V|PML_ENST00000395132.2_Missense_Mutation_p.A259V|PML_ENST00000395135.3_Missense_Mutation_p.A259V|PML_ENST00000359928.4_Missense_Mutation_p.A259V|PML_ENST00000354026.6_Missense_Mutation_p.A259V|PML_ENST00000564428.1_Missense_Mutation_p.A259V|PML_ENST00000268058.3_Missense_Mutation_p.A259V|PML_ENST00000268059.6_Missense_Mutation_p.A259V|PML_ENST00000563500.1_Missense_Mutation_p.A259V			P29590	PML_HUMAN	promyelocytic leukemia	259					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCGGTTCACGCGCAGATGCAC	0.692000			T	"""RARA, PAX5"""	"""APL, ALL"""								7	32					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7713002	7713002	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:7713002C>T	ENST00000338316.4	+	11	1701	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	ADCY2_ENST00000537121.1_Missense_Mutation_p.R358C|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	538					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTTTCAAAATCGCACCTTAAG	0.299000													4	18					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319480	21319480	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:21319480G>C	ENST00000583088.1	+	3	1721	c.826G>C	c.(826-828)Gag>Cag	p.E276Q	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E276Q	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TGAGATTGACGAGGCCAGCCC	0.597000										Prostate(3;0.18)			26	56					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9400470	9400470	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr20:9400470G>T	ENST00000378501.2	+	22	2047	c.2032G>T	c.(2032-2034)Gat>Tat	p.D678Y	PLCB4_ENST00000378493.1_Missense_Mutation_p.D678Y|PLCB4_ENST00000334005.3_Missense_Mutation_p.D678Y|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.D690Y|PLCB4_ENST00000278655.4_Missense_Mutation_p.D678Y|PLCB4_ENST00000414679.2_Missense_Mutation_p.D690Y	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	678	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCTCAAACCAGATTTCATGAG	0.443000													37	49					3.3946e-10	5.04738e-10	1	1	0
TMEM138	51524	broad.mit.edu	37	11	61133546	61133546	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:61133546T>G	ENST00000542946.1	+	3	357	c.158T>G	c.(157-159)aTc>aGc	p.I53S	TMEM138_ENST00000540194.1_3'UTR|TMEM138_ENST00000278826.6_Missense_Mutation_p.I53S|TMEM138_ENST00000381787.2_De_novo_Start_InFrame			Q9NPI0	TM138_HUMAN	transmembrane protein 138	53						integral to membrane				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						CTCTTCAACATCATCATCATT	0.453000													11	79					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52797534	52797534	+	Nonsense_Mutation	SNP	C	C	A	rs144698413		TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:52797534C>A	ENST00000257974.2	-	2	648	c.571G>T	c.(571-573)Gag>Tag	p.E191*		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	191	Coil 1B.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AGCTCTGACTCTAGCCTCACG	0.607000													20	58					1.33834e-09	1.92373e-09	1	1	0
OR1S2	219958	broad.mit.edu	37	11	57971422	57971422	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:57971422A>T	ENST00000302592.6	-	1	231	c.232T>A	c.(232-234)Tac>Aac	p.Y78N		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y78N(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AAGGATAGGTAGGCAAGGAAG	0.453000													17	71					0	0	1	0	0
PODNL1	79883	broad.mit.edu	37	19	14043740	14043740	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:14043740G>A	ENST00000538517.2	-	6	1288	c.1044C>T	c.(1042-1044)aaC>aaT	p.N348N	PODNL1_ENST00000254320.3_Silent_p.N357N|PODNL1_ENST00000339560.5_Silent_p.N439N|PODNL1_ENST00000538371.2_Silent_p.N437N	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	podocan-like 1	439	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			TCCGCAGCTGGTTGCGTTGCA	0.711000													9	5					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29255868	29255868	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:29255868C>T	ENST00000379558.4	+	15	2432	c.2081C>T	c.(2080-2082)tCt>tTt	p.S694F	FAM179A_ENST00000403861.2_Missense_Mutation_p.S639F|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	694							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGAAGCAATCTCTCCCATCT	0.488000													7	30					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54445350	54445350	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:54445350C>T	ENST00000391767.1	+	6	843	c.631C>T	c.(631-633)Cgt>Tgt	p.R211C	CACNG7_ENST00000222212.2_Missense_Mutation_p.R211C			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	211				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GGAGATGTACCGTCCACACCC	0.706000													25	42					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50873084	50873084	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr10:50873084C>A	ENST00000395562.2	+	16	2462	c.1993C>A	c.(1993-1995)Caa>Aaa	p.Q665K	CHAT_ENST00000351556.3_Missense_Mutation_p.Q629K|CHAT_ENST00000337653.2_Missense_Mutation_p.Q747K|CHAT_ENST00000395559.2_Missense_Mutation_p.Q629K|CHAT_ENST00000339797.1_Missense_Mutation_p.Q629K|CHAT_ENST00000455728.2_Intron	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	747					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCAGGGACACCAACCTTGACT	0.572000													8	54					0.0477658	0.0492313	1	1	0
PROSER1	80209	broad.mit.edu	37	13	39596463	39596463	+	Splice_Site	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:39596463C>A	ENST00000352251.3	-	9	1563	c.730_splice	c.e9+1	p.E244_splice	PROSER1_ENST00000350125.3_Splice_Site_p.E222_splice|PROSER1_ENST00000484434.2_Intron	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	244	Pro-rich.																AACATTTTACCTGTTCCTACA	0.388000													5	36					1.23904e-05	1.52484e-05	1	1	0
RHOH	399	broad.mit.edu	37	4	40245054	40245054	+	Silent	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:40245054G>C	ENST00000381799.4	+	3	772	c.48G>C	c.(46-48)ggG>ggC	p.G16G	RHOH_ENST00000505618.1_Silent_p.G16G	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	16					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CTGCTGTGGGGAAAACCTCTC	0.572000													7	55					0	0	1	0	0
KRTAP21-2	337978	broad.mit.edu	37	21	32119422	32119422	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr21:32119422G>T	ENST00000333892.2	-	1	129	c.99C>A	c.(97-99)taC>taA	p.Y33*		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	33						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						agccagagccgtatccacagc	0.537000													21	64					2.39187e-15	4.00881e-15	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66356285	66356285	+	Silent	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:66356285C>T	ENST00000273854.3	-	5	1812	c.1212G>A	c.(1210-1212)gtG>gtA	p.V404V	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Silent_p.V404V|EPHA5_ENST00000354839.4_Silent_p.V404V	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	404	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACTCCTCACACACACCTGCAT	0.498000										TSP Lung(17;0.13)			13	25					0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89847279	89847279	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:89847279G>A	ENST00000370456.4	+	7	991	c.898G>A	c.(898-900)Gta>Ata	p.V300I	GBP6_ENST00000535065.1_Missense_Mutation_p.V170I	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	300							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AGTGACTTATGTAGAGGCCAT	0.502000													26	63					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47854978	47854978	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:47854978C>T	ENST00000289672.2	-	47	7093	c.7043G>A	c.(7042-7044)gGc>gAc	p.G2348D	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2348					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGGGTACAGGCCATCCAGAAG	0.527000													48	45					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32831693	32831693	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr22:32831693C>G	ENST00000397452.1	-	9	1032	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	BPIFC_ENST00000534972.1_Missense_Mutation_p.E32Q|BPIFC_ENST00000432451.2_Missense_Mutation_p.E122Q|BPIFC_ENST00000300399.3_Missense_Mutation_p.E308Q			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	308						extracellular region	lipopolysaccharide binding|phospholipid binding										CTCCTCACCTCTTCGGTGGAG	0.423000													3	19					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84727238	84727238	+	Silent	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:84727238T>C	ENST00000284136.6	-	2	238	c.195A>G	c.(193-195)tcA>tcG	p.S65S	SEMA3D_ENST00000444867.1_Silent_p.S65S	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	65	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCAGTCCTTCTGATGAACCCA	0.388000													34	49					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19747068	19747068	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:19747068G>C	ENST00000507958.1	-	6	1496	c.506C>G	c.(505-507)cCt>cGt	p.P169R	CDH18_ENST00000382275.1_Missense_Mutation_p.P169R|CDH18_ENST00000274170.4_Missense_Mutation_p.P169R|CDH18_ENST00000502796.1_Missense_Mutation_p.P169R|CDH18_ENST00000506372.1_Missense_Mutation_p.P169R|CDH18_ENST00000511273.1_Missense_Mutation_p.P169R			Q13634	CAD18_HUMAN	cadherin 18, type 2	169	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P169H(2)		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)					TGACATTTCAGGCACAGTAAC	0.328000													10	80					0	0	1	0	0
B2M	567	broad.mit.edu	37	15	45003745	45003745	+	Translation_Start_Site	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:45003745A>G	ENST00000558401.1	+	1	71	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	B2M_ENST00000544417.1_Start_Codon_SNP_p.M1V|B2M_ENST00000559916.1_Start_Codon_SNP_p.M1V	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	1					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.M1L(3)|p.M1V(2)|p.?(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TCGGGCCGAGATGTCTCGCTC	0.612000													9	29					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20142851	20142851	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:20142851G>T	ENST00000263754.4	+	5	1197	c.742G>T	c.(742-744)Gca>Tca	p.A248S		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	248					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AGTTGAGTTGGCAAAAATGTT	0.403000													19	23					6.94344e-10	1.01905e-09	1	1	0
SOX14	8403	broad.mit.edu	37	3	137483966	137483966	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:137483966G>T	ENST00000306087.1	+	1	388	c.340G>T	c.(340-342)Gcc>Tcc	p.A114S		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	114					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						GCCCGTGGGGGCCTCCGACGG	0.697000													28	47					2.24059e-21	4.08897e-21	1	1	0
GUSBP1	728411	broad.mit.edu	37	5	21459785	21459785	+	RNA	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:21459785A>G	ENST00000607545.1	+	0	29					NR_027026.1																						TTCTTGCTCCAGTGACAGGCT	0.657000											OREG0016459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	90					0	0	1	0	0
SIAH2	6478	broad.mit.edu	37	3	150460469	150460469	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:150460469C>A	ENST00000312960.3	-	2	961	c.434G>T	c.(433-435)tGt>tTt	p.C145F		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	145	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGTCAGGGAACAGCCCGTGGT	0.488000													3	25					0.115264	0.117598	1	1	0
KIAA0947	23379	broad.mit.edu	37	5	5461235	5461235	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:5461235A>T	ENST00000296564.7	+	13	2010	c.1788A>T	c.(1786-1788)aaA>aaT	p.K596N		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	596			K -> E (in dbSNP:rs10475299).							breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAAAGGAAAAAGAAGATACTC	0.398000													28	112					0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44427664	44427664	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr21:44427664G>T	ENST00000291547.5	+	3	326	c.115G>T	c.(115-117)Gga>Tga	p.G39*	PKNOX1_ENST00000432907.2_5'UTR	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	39							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CGATGCAGAAGGAGTGAGCCC	0.512000													22	43					1.22574e-08	1.70513e-08	1	1	0
RING1	6015	broad.mit.edu	37	6	33177712	33177712	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:33177712G>T	ENST00000374656.4	+	4	468	c.260G>T	c.(259-261)tGc>tTc	p.C87F	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	87	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						TGTCCTACCTGCCGAAAGAAG	0.562000													17	15					4.7546e-09	6.70673e-09	1	1	0
ESR1	2099	broad.mit.edu	37	6	152332851	152332851	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:152332851T>A	ENST00000440973.1	+	7	1527	c.1157T>A	c.(1156-1158)aTc>aAc	p.I386N	ESR1_ENST00000544394.1_Missense_Mutation_p.I213N|ESR1_ENST00000443427.1_Missense_Mutation_p.I386N|ESR1_ENST00000206249.3_Missense_Mutation_p.I386N|ESR1_ENST00000338799.5_Missense_Mutation_p.I386N|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.I274N	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	386	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TGGCTAGAGATCCTGATGATT	0.493000													35	27					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35993824	35993824	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:35993824G>C	ENST00000297866.5	+	15	2573	c.2507G>C	c.(2506-2508)gGa>gCa	p.G836A		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	836										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						GTACCCAGTGGACACATCCTA	0.388000													36	22					0	0	1	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125233551	125233551	+	RNA	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:125233551C>G	ENST00000439075.1	-	0	1194					NR_026876.1																						TTTCTTAATCCTGTTTTTCTA	0.378000													17	20					0	0	1	0	0
NUB1	51667	broad.mit.edu	37	7	151042434	151042434	+	Splice_Site	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:151042434G>T	ENST00000568733.1	+	2	137	c.70_splice	c.e2-1	p.G24_splice	NUB1_ENST00000413040.2_Splice_Site_p.G24_splice|NUB1_ENST00000355851.4_5'UTR|NUB1_ENST00000566856.1_5'UTR			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	0					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TTGCTTTCAGGGATGGCACAA	0.333000													4	4					0.150653	0.153187	1	1	0
GPR112	139378	broad.mit.edu	37	X	135405348	135405348	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:135405348G>C	ENST00000394143.1	+	5	773	c.482G>C	c.(481-483)gGg>gCg	p.G161A	GPR112_ENST00000370652.1_Missense_Mutation_p.G161A|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.G98A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	161					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGTTCCTAGGGCACTTTCTC	0.463000													12	46					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086880	92086880	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:92086880G>A	ENST00000298047.6	+	1	1619	c.1602G>A	c.(1600-1602)ctG>ctA	p.L534L	FAT3_ENST00000409404.2_Silent_p.L534L|FAT3_ENST00000541502.1_Silent_p.L534L|FAT3_ENST00000525166.1_Silent_p.L384L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	534	Cadherin 5.				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)				CTGAAGAACTGGATTTTGAAT	0.398000										TCGA Ovarian(4;0.039)			22	38					0	0	1	0	0
ANKFY1	51479	broad.mit.edu	37	17	4111298	4111298	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:4111298G>C	ENST00000341657.4	-	6	697	c.662C>G	c.(661-663)cCg>cGg	p.P221R	ANKFY1_ENST00000570535.1_Missense_Mutation_p.P263R|ANKFY1_ENST00000433651.1_Missense_Mutation_p.P221R|ANKFY1_ENST00000574367.1_Missense_Mutation_p.P221R	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	221						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TTTATGTAGCGGGTACTCTGT	0.443000													6	71					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685509	125685509	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:125685509G>T	ENST00000371126.1	-	1	1325	c.1083C>A	c.(1081-1083)caC>caA	p.H361Q		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	361										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CAGTGATGATGTGGCGGTAGA	0.617000													38	28					3.21399e-22	5.94917e-22	1	1	0
SLIT3	6586	broad.mit.edu	37	5	168114058	168114058	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:168114058G>T	ENST00000519560.1	-	30	3659	c.3240C>A	c.(3238-3240)gcC>gcA	p.A1080A	SLIT3_ENST00000404867.3_Silent_p.A1080A|SLIT3_ENST00000332966.8_Silent_p.A1087A	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1080	EGF-like 5.				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)			GGCACTTGTGGGCCACACAGT	0.607000													15	26					3.27435e-08	4.46592e-08	1	1	0
RARRES3	5920	broad.mit.edu	37	11	63312207	63312207	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:63312207A>G	ENST00000439013.2	+	3	286	c.233A>G	c.(232-234)aAc>aGc	p.N78S	RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000255688.3_Missense_Mutation_p.N78S|RARRES3_ENST00000354445.2_Missense_Mutation_p.N78S			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	78					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						CGGGTCAACAACAGCTTGGAC	0.547000													20	89					0	0	1	0	0
VASH1	22846	broad.mit.edu	37	14	77242349	77242349	+	Silent	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:77242349C>T	ENST00000167106.4	+	5	1278	c.645C>T	c.(643-645)taC>taT	p.Y215Y	RP11-488C13.6_ENST00000556368.1_RNA|VASH1_ENST00000556038.1_3'UTR	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	215					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		CGGGCCGCTACGGTGCGCTGG	0.657000													9	18					0	0	1	0	0
ATP1B4	23439	broad.mit.edu	37	X	119512554	119512554	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:119512554C>A	ENST00000218008.3	+	7	895	c.838C>A	c.(838-840)Cga>Aga	p.R280R	ATP1B4_ENST00000539306.1_Silent_p.R237R|ATP1B4_ENST00000361319.3_Silent_p.R276R	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	280					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						AAATGACATCCGATCCATCAG	0.483000													48	31					2.47907e-22	4.61707e-22	1	1	0
ST14	6768	broad.mit.edu	37	11	130064047	130064047	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:130064047G>T	ENST00000278742.5	+	8	1297	c.879G>T	c.(877-879)ttG>ttT	p.L293F		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	293	CUB 1.				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)	CCCACAGGTTGTGTGGCACCT	0.602000													26	147					1.5548e-18	2.70672e-18	1	1	0
CELA3B	23436	broad.mit.edu	37	1	22313088	22313088	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:22313088C>A	ENST00000337107.6	+	7	726	c.707C>A	c.(706-708)aCc>aAc	p.T236N	CELA3B_ENST00000473526.1_3'UTR	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	236	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CATGGCGTGACCAGCTTTGTT	0.602000													13	44					4.3838e-07	5.73753e-07	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186010216	186010216	+	Silent	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:186010216G>T	ENST00000271588.4	+	40	6481	c.6252G>T	c.(6250-6252)gtG>gtT	p.V2084V	HMCN1_ENST00000367492.2_Silent_p.V2084V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2084	Ig-like C2-type 18.				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						ACACCTGCGTGGCAGTGAATG	0.443000													8	90					0.000157383	0.000183952	1	1	0
DSCR9	257203	broad.mit.edu	37	21	38593745	38593745	+	RNA	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr21:38593745A>G	ENST00000454482.2	+	0	1352				AP001432.14_ENST00000440629.1_lincRNA	NR_026719.2																						GAACACCAGCATCTGCTGCCG	0.542000													28	56					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902200	51902200	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:51902200C>A	ENST00000268919.4	+	1	1962	c.1806C>A	c.(1804-1806)ccC>ccA	p.P602P		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	602					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAACATTACCCACTCTGTTAG	0.418000													34	53					4.3181e-19	7.60489e-19	1	1	0
ZNF236	7776	broad.mit.edu	37	18	74631780	74631780	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr18:74631780G>T	ENST00000253159.8	+	20	3515	c.3317G>T	c.(3316-3318)cGg>cTg	p.R1106L	ZNF236_ENST00000320610.9_Missense_Mutation_p.R1108L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1106					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AATGCATCACGGAAGTCTCGT	0.488000													16	45					6.72482e-11	1.01151e-10	1	1	0
HEATR5A	25938	broad.mit.edu	37	14	31795411	31795411	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr14:31795411G>A	ENST00000543095.2	-	23	3689	c.3505C>T	c.(3505-3507)Ctg>Ttg	p.L1169L	HEATR5A_ENST00000439348.1_Silent_p.L1163L|HEATR5A_ENST00000389961.3_Silent_p.L1163L|HEATR5A_ENST00000439727.1_Silent_p.L876L	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1163							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)		TTTAACCACAGGGAGAGTTTT	0.323000													8	17					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84442290	84442290	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:84442290C>G	ENST00000286744.5	+	4	429	c.205C>G	c.(205-207)Cgt>Ggt	p.R69G	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R69G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	69						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGAAACACTCGTTCAGATGA	0.448000													7	19					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10130142	10130142	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:10130142C>T	ENST00000287647.3	+	35	3569	c.3476C>T	c.(3475-3477)gCc>gTc	p.A1159V	FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000419585.1_Missense_Mutation_p.A1159V|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.A1159V|FANCD2_ENST00000383806.1_Missense_Mutation_p.A1159V	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1159					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)		GCTTCCCTTGCCAGACAATTC	0.428000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				14	24					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31464400	31464400	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:31464400C>A	ENST00000511367.2	-	19	2761	c.2517G>T	c.(2515-2517)acG>acT	p.T839T	DROSHA_ENST00000513349.1_Silent_p.T802T|DROSHA_ENST00000344624.3_Silent_p.T839T|DROSHA_ENST00000442743.1_Silent_p.T802T	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	839	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				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						TTAGCTCCACCGTTACTTCTC	0.423000													4	47					0.014758	0.0155645	1	1	0
WFIKKN2	124857	broad.mit.edu	37	17	48917614	48917614	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:48917614C>A	ENST00000311378.4	+	2	1493	c.965C>A	c.(964-966)gCt>gAt	p.A322D	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.A229D	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	322						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AATGGCACGGCTTTCCCGGCG	0.662000													44	77					1.22674e-20	2.22087e-20	1	1	0
TTC25	83538	broad.mit.edu	37	17	40117046	40117046	+	RNA	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:40117046G>C	ENST00000591658.1	+	0	1435							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				AATAACAAGAGAGAAGGACAT	0.453000													4	2					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70726816	70726816	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:70726816G>A	ENST00000261776.5	-	18	2354	c.2094C>T	c.(2092-2094)taC>taT	p.Y698Y	VAC14_ENST00000536184.2_Silent_p.Y130Y	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	698					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGAGCAGGCCGTAGAGGGCCT	0.652000													7	9					0	0	1	0	0
AANAT	15	broad.mit.edu	37	17	74466034	74466034	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:74466034C>A	ENST00000250615.3	+	7	1748	c.741C>A	c.(739-741)cgC>cgA	p.R247R	AANAT_ENST00000392492.3_Silent_p.R202R	NM_001166579.1	NP_001160051.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	202					circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						CCTTCCTGCGCAGGAACAGCG	0.657000													4	5					0.00024832	0.000288013	1	1	0
OR13C2	392376	broad.mit.edu	37	9	107367888	107367888	+	Silent	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:107367888G>A	ENST00000542196.1	-	1	63	c.21C>T	c.(19-21)acC>acT	p.T7T		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCACCAGAATGGTGTGGTTTT	0.368000													6	28					0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10129433	10129433	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:10129433G>T	ENST00000591589.1	+	3	538	c.349G>T	c.(349-351)Ggg>Tgg	p.G117W	RDH8_ENST00000171214.1_Missense_Mutation_p.G97W			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	97					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)	GGGCCTGGTGGGGCCCCTGGA	0.507000													8	148					2.17888e-05	2.64912e-05	1	1	0
THAP9	79725	broad.mit.edu	37	4	83827746	83827746	+	Silent	SNP	A	A	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:83827746A>G	ENST00000302236.5	+	3	597	c.546A>G	c.(544-546)gaA>gaG	p.E182E		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	182							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)				TACTTTCTGAAGAAACAGAGT	0.358000													6	17					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26700113	26700113	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:26700113T>A	ENST00000272371.2	-	21	2576	c.2450A>T	c.(2449-2451)aAg>aTg	p.K817M	OTOF_ENST00000402415.3_Missense_Mutation_p.K127M|OTOF_ENST00000338581.6_Missense_Mutation_p.K70M|OTOF_ENST00000339598.3_Missense_Mutation_p.K70M|OTOF_ENST00000403946.3_Missense_Mutation_p.K817M	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	817					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)					CGTGTGCCGCTTCACCTGGGC	0.662000													9	11					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17805799	17805799	+	Silent	SNP	T	T	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:17805799T>A	ENST00000378814.5	-	19	2210	c.2211A>T	c.(2209-2211)ggA>ggT	p.G737G	KIF13A_ENST00000378826.2_Silent_p.G737G|KIF13A_ENST00000378843.2_Silent_p.G737G|KIF13A_ENST00000378816.5_Silent_p.G737G|KIF13A_ENST00000259711.6_Silent_p.G737G	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	737					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGGTGCTCTTTCCTTTCCTCC	0.403000													3	14					0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137778350	137778350	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:137778350G>C	ENST00000350339.2	+	6	534	c.520G>C	c.(520-522)Gtg>Ctg	p.V174L	FCN2_ENST00000291744.6_Missense_Mutation_p.V212L	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	212	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		ATCATTCAAGGTGGCCGACGA	0.567000													11	102					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210557390	210557390	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:210557390G>C	ENST00000360351.4	+	7	1002	c.496G>C	c.(496-498)Gaa>Caa	p.E166Q	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E162Q|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	166					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)	CGATCAACAGGAATTGACTCC	0.428000													20	24					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	407753	407753	+	Missense_Mutation	SNP	G	G	T	rs138000940	byFrequency	TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:407753G>T	ENST00000256509.2	+	15	2348	c.1706G>T	c.(1705-1707)aGt>aTt	p.S569I	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.S553I	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	553	Ig-like C2-type 6.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGTCCTGGAGTAAAGATGGA	0.368000													10	33					0.000442599	0.000506866	1	1	0
TBX15	6913	broad.mit.edu	37	1	119466122	119466122	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:119466122C>A	ENST00000369429.3	-	5	807	c.798G>T	c.(796-798)ggG>ggT	p.G266G	TBX15_ENST00000207157.3_Silent_p.G160G			Q96SF7	TBX15_HUMAN	T-box 15	266						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		ACGTTTTCACCCCATCCCCAA	0.488000													6	31					0.0215528	0.0224952	1	1	0
TRIM43	129868	broad.mit.edu	37	2	96262052	96262052	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:96262052G>C	ENST00000272395.2	+	4	746	c.610G>C	c.(610-612)Gaa>Caa	p.E204Q		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	204						intracellular	zinc ion binding			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ACTGAACAAGGAATACCAAGA	0.388000													6	13					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188268	7188268	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:7188268G>T	ENST00000486284.1	+	2	923	c.649G>T	c.(649-651)Ggc>Tgc	p.G217C	GRM7_ENST00000389336.4_Missense_Mutation_p.G217C|GRM7_ENST00000402647.2_Missense_Mutation_p.G217C|GRM7_ENST00000357716.4_Missense_Mutation_p.G217C|GRM7_ENST00000403881.1_Missense_Mutation_p.G217C	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	217					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AAAGGCCCTAGGCTGGAATTA	0.522000													19	43					1.74485e-21	3.19712e-21	1	1	0
REM1	28954	broad.mit.edu	37	20	30064292	30064292	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr20:30064292G>T	ENST00000201979.2	+	2	337	c.44G>T	c.(43-45)cGg>cTg	p.R15L	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	15					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCTCTGCACCGGCGAGCCAGC	0.617000													41	75					9.73076e-26	1.85806e-25	1	1	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033950	37033950	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:37033950C>A	ENST00000322716.5	-	1	845	c.619G>T	c.(619-621)Gat>Tat	p.D207Y		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	207						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GTCAGAAGATCTTCTTGCACC	0.517000													23	46					5.26018e-13	8.44422e-13	1	1	0
TG	7038	broad.mit.edu	37	8	133899143	133899143	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:133899143T>C	ENST00000220616.4	+	9	1566	c.1526T>C	c.(1525-1527)tTc>tCc	p.F509S	TG_ENST00000377869.1_Missense_Mutation_p.F509S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	509					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)		CTTGCAAGCTTCTTGAATGGA	0.448000													18	60					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298759	125298759	+	Silent	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:125298759C>G	ENST00000538699.1	-	2	1229	c.1149G>C	c.(1147-1149)ctG>ctC	p.L383L	DCAF12L2_ENST00000360028.2_Silent_p.L383L	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	383										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCCTCTCCTCCAGGAACTTCT	0.627000													52	47					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558357	106558357	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:106558357G>T	ENST00000526355.1	-	8	2585	c.2117C>A	c.(2116-2118)cCa>cAa	p.P706Q	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P737Q|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P727Q	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	706					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGAAGGCTTTGGTGGCTTTGG	0.478000													39	64					2.47872e-24	4.67402e-24	1	1	0
TMPRSS9	360200	broad.mit.edu	37	19	2408537	2408537	+	Silent	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:2408537C>A	ENST00000332578.3	+	7	924	c.924C>A	c.(922-924)atC>atA	p.I308I		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	308	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GCCGGCACATCCAGCCCGTGT	0.622000													33	72					8.88839e-20	1.57456e-19	1	1	0
WISP1	8840	broad.mit.edu	37	8	134239837	134239837	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:134239837T>C	ENST00000250160.6	+	5	1094	c.988T>C	c.(988-990)Ttc>Ctc	p.F330L	WISP1_ENST00000377863.2_Missense_Mutation_p.F158L|WISP1_ENST00000220856.6_Missense_Mutation_p.F243L|WISP1_ENST00000519433.1_Missense_Mutation_p.F85L|WISP1_ENST00000517423.1_3'UTR	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	330	CTCK.				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)			TGGGCTTGGCTTCTCCCGCCA	0.498000													14	95					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86498854	86498854	+	Silent	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr9:86498854G>C	ENST00000297814.2	-	10	2462	c.2319C>G	c.(2317-2319)gtC>gtG	p.V773V	KIF27_ENST00000334204.2_Silent_p.V773V|KIF27_ENST00000376347.1_Silent_p.V164V|KIF27_ENST00000413982.1_Silent_p.V773V	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	773					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CAATCAGTTCGACTTTTGCCT	0.353000													5	36					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806714	54806714	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:54806714A>T	ENST00000306858.7	+	5	3061	c.2945A>T	c.(2944-2946)aAc>aTc	p.N982I		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	982										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)					CTTAATTACAACACTGGTGTT	0.358000													17	25					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32712336	32712336	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:32712336C>A	ENST00000265074.8	+	1	797	c.454C>A	c.(454-456)Ctg>Atg	p.L152M	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.L152M|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	152					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GCACTGGGACCTGCCCATGCT	0.706000													31	287					1.08312e-15	1.82262e-15	1	1	0
PTTG2	10744	broad.mit.edu	37	4	37962539	37962539	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:37962539G>C	ENST00000504686.1	+	1	484	c.484G>C	c.(484-486)Ggc>Cgc	p.G162R	TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000261439.4_Intron	NM_006607.2	NP_006598.2	Q9NZH5	PTTG2_HUMAN	pituitary tumor-transforming 2	162					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						GTTTCAGCTGGGCCCCCCTTC	0.532000													27	123					0	0	1	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44811447	44811447	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:44811447C>G	ENST00000260327.4	+	11	1756	c.1193C>G	c.(1192-1194)tCa>tGa	p.S398*	CTDSPL2_ENST00000396780.1_Nonsense_Mutation_p.S326*|CTDSPL2_ENST00000558966.1_Nonsense_Mutation_p.S398*|CTDSPL2_ENST00000558373.1_Nonsense_Mutation_p.S326*	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	398	FCP1 homology.						phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		AGAGATCTTTCAAAAACTATA	0.323000													4	22					0	0	1	0	0
LMOD3	56203	broad.mit.edu	37	3	69168389	69168389	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:69168389T>C	ENST00000420581.2	-	2	1296	c.1117A>G	c.(1117-1119)Atg>Gtg	p.M373V	LMOD3_ENST00000475434.1_Missense_Mutation_p.M373V|LMOD3_ENST00000489031.1_Missense_Mutation_p.M373V	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	373						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TGGTAGCCCATCTTCAGGAGA	0.473000													11	60					0	0	1	0	0
ZBTB24	9841	broad.mit.edu	37	6	109787547	109787547	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:109787547C>A	ENST00000230122.3	-	7	1768	c.1601G>T	c.(1600-1602)aGg>aTg	p.R534M		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		AAGAATATTCCTGACCTCTTC	0.438000													45	39					5.20006e-24	9.78518e-24	1	1	0
MSH4	4438	broad.mit.edu	37	1	76356495	76356495	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:76356495C>A	ENST00000263187.3	+	17	2445	c.2341C>A	c.(2341-2343)Cta>Ata	p.L781I		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	781					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTGTGAATATCTACTGAGCTT	0.299000								Mismatch excision repair (MMR)					4	19					0.014758	0.0155645	1	1	0
RP1	6101	broad.mit.edu	37	8	55537655	55537655	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:55537655G>A	ENST00000220676.1	+	4	1361	c.1213G>A	c.(1213-1215)Gca>Aca	p.A405T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	405					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	p.A405T(3)		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)			GGGCAGTTTGGCAGAGGAGAT	0.443000													24	26					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167039982	167039982	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:167039982C>A	ENST00000392766.2	-	12	1246	c.906G>T	c.(904-906)tgG>tgT	p.W302C	ZBBX_ENST00000392764.1_Missense_Mutation_p.W273C|ZBBX_ENST00000307529.5_Missense_Mutation_p.W302C|ZBBX_ENST00000455345.2_Missense_Mutation_p.W302C|ZBBX_ENST00000392767.2_Missense_Mutation_p.W302C|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	302						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						GTGGTTCTCTCCAAATTTTCA	0.274000													3	22					0.115264	0.117598	1	1	0
PAX7	5081	broad.mit.edu	37	1	19062397	19062397	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:19062397delC	ENST00000375375.3	+	8	2025	c.1427delC	c.(1426-1428)tcfs	p.S476fs	PAX7_ENST00000420770.2_Intron|PAX7_ENST00000400661.3_Frame_Shift_Del_p.S474fs	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	476					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CCCTGGGCGTCCCCCGTCCCC	0.627			T	FOXO1A	alveolar rhabdomyosarcoma								7	64	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs148903206		TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										aaaccaaaaacaaaAAAAAAAG	0.416													2	4	---	---	---	---					
RAB13	5872	broad.mit.edu	37	1	153954632	153954632	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:153954632delG	ENST00000368575.3	-	8	670	c.555delC	c.(553-555)ccfs	p.P185fs	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	185					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGTCAGTACTGGGAGGCTTGT	0.517													10	80	---	---	---	---					
CD1A	909	broad.mit.edu	37	1	158224495	158224495	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:158224495delC	ENST00000289429.5	+	1	569	c.36delC	c.(34-36)ctfs	p.L12fs		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	12					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TAGCTGTTCTCCCAGGTGATG	0.443													20	169	---	---	---	---					
NFASC	23114	broad.mit.edu	37	1	204926907	204926907	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr1:204926907delC	ENST00000367172.4	+	8	987	c.659delC	c.(658-660)acfs	p.T220fs	NFASC_ENST00000338515.6_Frame_Shift_Del_p.T220fs|NFASC_ENST00000360049.4_Frame_Shift_Del_p.T214fs|NFASC_ENST00000367169.4_Frame_Shift_Del_p.T220fs|NFASC_ENST00000513543.1_Frame_Shift_Del_p.T214fs|NFASC_ENST00000338586.6_Frame_Shift_Del_p.T220fs|NFASC_ENST00000367170.4_Frame_Shift_Del_p.T220fs|NFASC_ENST00000339876.6_Frame_Shift_Del_p.T220fs|NFASC_ENST00000401399.1_Frame_Shift_Del_p.T220fs|NFASC_ENST00000367171.4_Frame_Shift_Del_p.T220fs|NFASC_ENST00000539706.1_Frame_Shift_Del_p.T214fs|NFASC_ENST00000403080.1_Frame_Shift_Del_p.T220fs|NFASC_ENST00000404907.1_Frame_Shift_Del_p.T214fs|NFASC_ENST00000404076.1_Frame_Shift_Del_p.T214fs			O94856	NFASC_HUMAN	neurofascin	220	Ig-like C2-type 2.				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)			TTCCACTTCACCCACACCATC	0.557													37	52	---	---	---	---					
MEMO1	51072	broad.mit.edu	37	2	32093499	32093500	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:32093499_32093500insT	ENST00000295065.4	-	9	1133_1134	c.824_825insA	c.(823-825)ctcfs	p.L275fs	MEMO1_ENST00000490459.1_5'UTR|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000379383.3_Frame_Shift_Ins_p.L278fs|MEMO1_ENST00000404530.1_Frame_Shift_Ins_p.L275fs|MEMO1_ENST00000426310.2_Frame_Shift_Ins_p.L252fs	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	275					regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					ACTGGCTCGACTGGGCATAATT	0.446													7	10	---	---	---	---					
PTPN4	5775	broad.mit.edu	37	2	120718399	120718399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:120718399delC	ENST00000263708.2	+	23	2921	c.2150delC	c.(2149-2151)tcfs	p.S718fs	PTPN4_ENST00000544261.1_Frame_Shift_Del_p.S351fs	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	718	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATTCCTTCTTCCAGCATTATA	0.358													12	49	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168105187	168105187	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:168105187delC	ENST00000409195.1	+	9	7374	c.7285delC	c.(7285-7287)ttfs	p.L2429fs	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Del_p.L2429fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Del_p.L2207fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2254					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						CAAACCCAAACTTCCCAAGCA	0.408													16	85	---	---	---	---					
DIRC1	116093	broad.mit.edu	37	2	189599350	189599350	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr2:189599350delG	ENST00000308100.4	-	2	568	c.298delC	c.(298-300)aafs	p.Q100fs	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	100										large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			AGGCTTAGTTGGTTTAATATT	0.368													30	59	---	---	---	---					
PPP4R2	151987	broad.mit.edu	37	3	73114099	73114099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr3:73114099delA	ENST00000356692.5	+	8	988	c.735delA	c.(733-735)gtfs	p.V245fs	PPP4R2_ENST00000295862.9_Frame_Shift_Del_p.V189fs|PPP4R2_ENST00000394284.3_Frame_Shift_Del_p.V188fs			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	245					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GGCATGAGGTAAAAAGACTCA	0.433													17	24	---	---	---	---					
JADE1	79960	broad.mit.edu	37	4	129767604	129767605	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr4:129767604_129767605insT	ENST00000226319.6	+	4	493_494	c.213_214insT	c.(211-216)gttggcfs	p.G72fs	PHF17_ENST00000512960.1_Frame_Shift_Ins_p.G72fs|PHF17_ENST00000452328.2_Frame_Shift_Ins_p.G72fs|PHF17_ENST00000413543.2_Frame_Shift_Ins_p.G72fs|PHF17_ENST00000511647.1_Frame_Shift_Ins_p.G72fs	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		72					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						AGTACTATGTGTTGGCAGATCC	0.554													17	85	---	---	---	---					
PCDHGA3	56112	broad.mit.edu	37	5	140725829	140725829	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:140725829delG	ENST00000253812.6	+	1	2229	c.2229delG	c.(2227-2229)gcfs	p.A743fs	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGGGCGCGGACGGGGTTC	0.667													55	101	---	---	---	---					
SLC36A2	153201	broad.mit.edu	37	5	150722455	150722456	+	Frame_Shift_Ins	INS	-	-	A	rs143350420	by1000genomes	TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr5:150722455_150722456insA	ENST00000335244.4	-	4	562_563	c.433_434insT	c.(433-435)gggfs	p.G145fs	SLC36A2_ENST00000521967.1_Frame_Shift_Ins_p.G145fs	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	145					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTACCTTCCCCAGTGAGCGTGA	0.530													23	25	---	---	---	---					
MDGA1	266727	broad.mit.edu	37	6	37664541	37664541	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr6:37664541delC	ENST00000434837.2	-	1	1225	c.47delG	c.(46-48)tcfs	p.C16fs	MDGA1_ENST00000505425.1_Frame_Shift_Del_p.C16fs|MDGA1_ENST00000297153.7_Frame_Shift_Del_p.C16fs	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	16					brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TTGTCCCCGGCAGTGGAAGGG	0.667													2	4	---	---	---	---					
PHF14	9678	broad.mit.edu	37	7	11076118	11076118	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr7:11076118delG	ENST00000403050.3	+	9	2128	c.1676delG	c.(1675-1677)tgfs	p.W559fs	PHF14_ENST00000445996.2_Frame_Shift_Del_p.W274fs	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	559							zinc ion binding	p.W559L(1)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		CCCCAGGCCTGGGTTCCAAGG	0.463													8	24	---	---	---	---					
VPS13B	157680	broad.mit.edu	37	8	100729491	100729493	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr8:100729491_100729493delTGT	ENST00000358544.2	+	37	6733_6735	c.6622_6624delTGT	c.(6622-6624)del	p.C2209del	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_In_Frame_Del_p.C2184del	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2209					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GATAGGACCATGTTGTGCTACTG	0.409													9	66	---	---	---	---					
ASCL3	56676	broad.mit.edu	37	11	8959677	8959677	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:8959677delG	ENST00000325884.1	-	2	91	c.32delC	c.(31-33)ctfs	p.P11fs	ASCL3_ENST00000531618.1_Frame_Shift_Del_p.P11fs	NM_020646.1	NP_065697.1	Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	10					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		AAGTTTGTCAGGTAGACTAGA	0.483													53	133	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900922	123900922	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr11:123900922delT	ENST00000431524.1	+	1	626	c.593delT	c.(592-594)atfs	p.I198fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAGACTGTCATTTTTGTGACT	0.532													22	128	---	---	---	---					
CPNE8	144402	broad.mit.edu	37	12	39079398	39079399	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr12:39079398_39079399insC	ENST00000331366.5	-	16	1260_1261	c.1164_1165insG	c.(1162-1167)ccactgfs	p.L389fs	CPNE8_ENST00000538596.2_Frame_Shift_Ins_p.L58fs|CPNE8_ENST00000360449.3_Frame_Shift_Ins_p.L377fs	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	389	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CCATCACAGTAGGGGTTTTGAG	0.381													9	38	---	---	---	---					
DOCK9	23348	broad.mit.edu	37	13	99549853	99549853	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:99549853delT	ENST00000376460.1	-	15	1678	c.1598delA	c.(1597-1599)agfs	p.K533fs	DOCK9_ENST00000442173.1_Frame_Shift_Del_p.K533fs|DOCK9_ENST00000448493.2_Frame_Shift_Del_p.K545fs|DOCK9_ENST00000339416.2_Frame_Shift_Del_p.K534fs	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	534					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGATGCATCCTTAAACAATGT	0.358													11	68	---	---	---	---					
ZIC5	85416	broad.mit.edu	37	13	100617661	100617661	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr13:100617661delC	ENST00000267294.4	-	2	2195	c.1962delG	c.(1960-1962)ggfs	p.G654fs		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	654					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTCAGGGTTCCCGTAAATTT	0.468													32	79	---	---	---	---					
EPB42	2038	broad.mit.edu	37	15	43501604	43501604	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr15:43501604delG	ENST00000300215.3	-	6	1247	c.790delC	c.(790-792)agfs	p.Q264fs	EPB42_ENST00000540029.1_Frame_Shift_Del_p.Q156fs|EPB42_ENST00000441366.2_Frame_Shift_Del_p.Q234fs			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	234					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGGGTGGCCTGGGTCTGCGGG	0.632													14	75	---	---	---	---					
LONP2	83752	broad.mit.edu	37	16	48329978	48329984	+	Frame_Shift_Del	DEL	CCTTTGA	CCTTTGA	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr16:48329978_48329984delCCTTTGA	ENST00000285737.4	+	9	1529_1535	c.1436_1442delCCTTTGA	c.(1435-1443)gcfs	p.AFD479fs	LONP2_ENST00000535754.1_Frame_Shift_Del_p.AFD435fs	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	479					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTAAATGTGGCCTTTGACCTTTCTCAA	0.406													29	74	---	---	---	---					
ARHGEF15	22899	broad.mit.edu	37	17	8222445	8222445	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:8222445delC	ENST00000361926.3	+	13	2264	c.2154delC	c.(2152-2154)cgfs	p.R718fs	ARHGEF15_ENST00000421050.1_Frame_Shift_Del_p.R718fs|ARHGEF15_ENST00000582060.1_3'UTR	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	718					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						ACCAGGGCCGCCCCACCCACC	0.592													53	66	---	---	---	---					
LRRC75A-AS1	125144	broad.mit.edu	37	17	16342848	16342848	+	RNA	DEL	C	C	-	rs11540320		TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr17:16342848delC	ENST00000475953.1	+	0	370				C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA	NR_027667.1																						ATAGGAAGTGCCGTCAGAAGC	0.488													18	116	---	---	---	---					
COL5A3	50509	broad.mit.edu	37	19	10097033	10097033	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:10097033delC	ENST00000264828.3	-	30	2395	c.2310delG	c.(2308-2310)ggfs	p.G770fs		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	770	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CGCCAGCCTGCCCCGCCTGCC	0.602													16	38	---	---	---	---					
ZNF607	84775	broad.mit.edu	37	19	38189064	38189064	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr19:38189064delA	ENST00000355202.4	-	5	2563	c.1968delT	c.(1966-1968)agfs	p.S657fs	ZNF607_ENST00000395835.3_Frame_Shift_Del_p.S656fs|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GTTCATGGCTACTATTAAAAG	0.393													19	17	---	---	---	---					
HSPA12B	116835	broad.mit.edu	37	20	3730716	3730716	+	Frame_Shift_Del	DEL	G	G	-	rs111540710		TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr20:3730716delG	ENST00000254963.2	+	11	1288	c.1143delG	c.(1141-1143)ccfs	p.P381fs	HSPA12B_ENST00000542646.1_Frame_Shift_Del_p.P215fs	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	381							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GGCAACGGCCGGCAGCCTGGG	0.652													4	7	---	---	---	---					
DOPEY2	9980	broad.mit.edu	37	21	37603371	37603371	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chr21:37603371delC	ENST00000399151.3	+	14	2374	c.2289delC	c.(2287-2289)ttfs	p.F763fs		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	763					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		p.F763F(1)		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						GTGCCACTTTCCCTGTCTACC	0.612													12	107	---	---	---	---					
DDX3X	1654	broad.mit.edu	37	X	41204747	41204750	+	Frame_Shift_Del	DEL	TGGG	TGGG	-			TCGA-55-A4DG-01A-11D-A24D-08	TCGA-55-A4DG-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f396958-ecda-4de4-a790-5e3ed81f5753	ddb66df4-7af1-41fc-8932-ec0268749f1a	g.chrX:41204747_41204750delTGGG	ENST00000399959.2	+	12	2116_2119	c.1261_1264delTGGG	c.(1261-1266)tgfs	p.WV421fs	DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Frame_Shift_Del_p.WV405fs	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	421	Helicase C-terminal.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GAAAGTAGTTTGGGTGGAAGAATC	0.377										HNSCC(61;0.18)			11	12	---	---	---	---					
