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
CD40LG	959	broad.mit.edu	37	X	135730549	135730549	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chrX:135730549A>G	ENST00000370629.2	+	1	198	c.142A>G	c.(142-144)Aga>Gga	p.R48G	CD40LG_ENST00000370628.2_Missense_Mutation_p.R48G	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	48					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	GTATCTTCATAGAAGGTTGGA	0.378000									Immune Deficiency with Hyper-IgM				9	202					0	0	0.069234	0	0
TAB2	23118	broad.mit.edu	37	6	149700156	149700156	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr6:149700156A>G	ENST00000367456.1	+	4	1682	c.1105A>G	c.(1105-1107)Ata>Gta	p.I369V	TAB2_ENST00000392282.1_Missense_Mutation_p.I369V|TAB2_ENST00000536230.1_Missense_Mutation_p.I337V|TAB2_ENST00000538427.1_Missense_Mutation_p.I369V|TAB2_ENST00000286332.5_Missense_Mutation_p.I369V			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	369					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CACTGTTTACATAGCTGCCAG	0.473000													7	62					0	0	0.038147	0	0
CDH4	1002	broad.mit.edu	37	20	60503480	60503480	+	Splice_Site	SNP	C	C	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr20:60503480C>T	ENST00000360469.5	+	12	2092	c.2005_splice	c.e12+1	p.N668_splice	CDH4_ENST00000543233.1_Splice_Site_p.N594_splice	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	668	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCGCCTGAACGGTGAGCCCG	0.682000													3	18					0	0	0.004672	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135271127	135271127	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr6:135271127C>A	ENST00000265605.2	-	1	133	c.65G>T	c.(64-66)aGc>aTc	p.S22I	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.S22I|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.S22I	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	22					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TATATATGAGCTACAAGGTAA	0.398000													12	92					3.03607e-14	5.55797e-14	0.013537	1	0
SLC45A2	51151	broad.mit.edu	37	5	33944770	33944770	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr5:33944770C>A	ENST00000296589.4	-	7	1722	c.1576G>T	c.(1576-1578)Gtt>Ttt	p.V526F	SLC45A2_ENST00000342059.3_Missense_Mutation_p.V467F	NM_016180.3	NP_057264.3	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	526					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ACATATCTAACAAAGAGAGCG	0.493000													6	38					0.00198382	0.00251579	0.029380	1	0
CCDC108	255101	broad.mit.edu	37	2	219903754	219903754	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr2:219903754C>G	ENST00000341552.5	-	3	100	c.17G>C	c.(16-18)gGt>gCt	p.G6A	CCDC108_ENST00000324264.6_5'UTR|CCDC108_ENST00000295729.2_Intron|CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000409865.3_Intron|CCDC108_ENST00000441968.1_Missense_Mutation_p.G6A|CCDC108_ENST00000453220.1_Missense_Mutation_p.G6A	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	6						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGTCTACAACCGGTTAAGGT	0.433000													5	73					0	0	0.014758	0	0
GALNT11	63917	broad.mit.edu	37	7	151814453	151814453	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr7:151814453G>T	ENST00000434507.1	+	11	1882	c.1445G>T	c.(1444-1446)cGt>cTt	p.R482L	GALNT11_ENST00000452146.2_Missense_Mutation_p.R401L|GALNT11_ENST00000320311.2_Missense_Mutation_p.R482L|GALNT11_ENST00000430044.2_Missense_Mutation_p.R482L			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	482	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GTCCTTCAACGTGGAAGGGTA	0.438000													7	85					8.12818e-05	0.000116044	0.029380	1	0
NYNRIN	57523	broad.mit.edu	37	14	24878354	24878354	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr14:24878354A>G	ENST00000382554.3	+	4	1672	c.1354A>G	c.(1354-1356)Att>Gtt	p.I452V		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	452					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAGGCCAGAGATTTCCCCAAA	0.552000													3	36					0	0	0.004672	0	0
MYADM	91663	broad.mit.edu	37	19	54377404	54377404	+	Silent	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr19:54377404G>T	ENST00000391769.2	+	3	901	c.621G>T	c.(619-621)gtG>gtT	p.V207V	MYADM_ENST00000336967.3_Silent_p.V207V|MYADM_ENST00000391768.2_Silent_p.V207V|MYADM_ENST00000391770.4_Silent_p.V207V|MYADM_ENST00000391771.1_Silent_p.V207V	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	207	MARVEL 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		AGTGGTGCGTGGCGGTGTACG	0.622000													13	215					1.3612e-06	2.20709e-06	0.024245	1	0
DMBT1	1755	broad.mit.edu	37	10	124402655	124402655	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr10:124402655C>A	ENST00000368909.3	+	53	7089	c.6983C>A	c.(6982-6984)aCc>aAc	p.T2328N	DMBT1_ENST00000359586.6_Missense_Mutation_p.T1048N|DMBT1_ENST00000368956.2_Missense_Mutation_p.T1700N|DMBT1_ENST00000338354.3_Missense_Mutation_p.T2328N|DMBT1_ENST00000344338.3_Missense_Mutation_p.T2318N|DMBT1_ENST00000330163.4_Missense_Mutation_p.T1700N|DMBT1_ENST00000368955.3_Missense_Mutation_p.T2318N	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2328	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGGGATGACACCTACGGACCC	0.557000													5	57					0.000602214	0.000781158	0.014758	1	0
FBN2	2201	broad.mit.edu	37	5	127624828	127624828	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr5:127624828G>A	ENST00000508053.1	-	58	7602	c.6628C>T	c.(6628-6630)Cgc>Tgc	p.R2210C	FBN2_ENST00000262464.4_Missense_Mutation_p.R2210C			P35556	FBN2_HUMAN	fibrillin 2	2210	EGF-like 36; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCCACACAGCGTACTCCAGTG	0.448000													7	89					0	0	0.029380	0	0
GJD2	57369	broad.mit.edu	37	15	35045114	35045114	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr15:35045114G>T	ENST00000290374.4	-	2	1007	c.531C>A	c.(529-531)caC>caA	p.H177Q		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	177					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GACCTGATGGGTGTGGAGTCA	0.483000													8	110					0.000442599	0.000584128	0.058154	1	0
TTI2	80185	broad.mit.edu	37	8	33369617	33369617	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr8:33369617G>A	ENST00000431156.2	-	2	1133	c.515C>T	c.(514-516)gCt>gTt	p.A172V	TTI2_ENST00000360742.5_Missense_Mutation_p.A172V|TTI2_ENST00000520636.1_Missense_Mutation_p.A172V	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN	TELO2 interacting protein 2	172							binding										CACCTCCCTAGCAACTTCCCG	0.512000													53	123					0	0	0.048971	0	0
NRG2	9542	broad.mit.edu	37	5	139231189	139231189	+	Splice_Site	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr5:139231189C>A	ENST00000541337.1	-	7	1803	c.1574_splice	c.e7+1	p.R525_splice	NRG2_ENST00000394770.1_3'UTR|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000361474.1_Splice_Site_p.R591_splice|NRG2_ENST00000545385.1_Splice_Site_p.R593_splice|NRG2_ENST00000289422.7_Splice_Site_p.R599_splice|NRG2_ENST00000340391.3_Splice_Site_p.R388_splice|NRG2_ENST00000289409.4_Splice_Site_p.R585_splice|NRG2_ENST00000358522.3_Splice_Site_p.R593_splice	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	591					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAACTGACCTCTCGCTGTG	0.647000													5	94					3.59834e-05	5.37383e-05	0.021553	1	0
DLGAP5	9787	broad.mit.edu	37	14	55643890	55643890	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr14:55643890C>A	ENST00000247191.2	-	8	1155	c.939G>T	c.(937-939)atG>atT	p.M313I	DLGAP5_ENST00000395425.2_Missense_Mutation_p.M313I	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	313					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						GTGGCTGAAACATAAAATCCT	0.388000													3	40					0.00024832	0.000333542	0.009096	1	0
MTRR	4552	broad.mit.edu	37	5	7900157	7900157	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr5:7900157G>A	ENST00000264668.2	+	15	2194	c.2164G>A	c.(2164-2166)Gat>Aat	p.D722N	MTRR_ENST00000440940.2_Missense_Mutation_p.D695N	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	722					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CTACCTTCAGGATATTTGGTC	0.343000													54	117					0	0	0.048971	0	0
SLC6A11	6538	broad.mit.edu	37	3	10861183	10861183	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr3:10861183T>C	ENST00000254488.2	+	2	356	c.290T>C	c.(289-291)aTt>aCt	p.I97T	SLC6A11_ENST00000454147.1_Missense_Mutation_p.I97T	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	97					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GTGTTTTTTATTTGCTGTGGA	0.438000													16	184					0	0	0.028581	0	0
OR2L3	391192	broad.mit.edu	37	1	248224651	248224651	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:248224651C>A	ENST00000359959.3	+	1	668	c.668C>A	c.(667-669)gCt>gAt	p.A223D	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	223					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)			GTTCTCCTTGCTGTCTACCAC	0.483000													18	134					1.67942e-08	2.93252e-08	0.038395	1	0
TRAF3IP3	80342	broad.mit.edu	37	1	209955490	209955490	+	Silent	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:209955490C>A	ENST00000367024.1	+	17	2169	c.1653C>A	c.(1651-1653)atC>atA	p.I551I	TRAF3IP3_ENST00000010338.4_Silent_p.I531I|TRAF3IP3_ENST00000477431.1_3'UTR|TRAF3IP3_ENST00000467830.1_3'UTR|TRAF3IP3_ENST00000367025.3_Silent_p.I551I|TRAF3IP3_ENST00000367026.3_Silent_p.I531I			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	551						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		ACCTGATGATCTGAATAATTT	0.483000													9	111					0.00621372	0.00754285	0.058154	1	0
ZFHX4	79776	broad.mit.edu	37	8	77767199	77767199	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr8:77767199G>A	ENST00000521891.2	+	10	8490	c.8042G>A	c.(8041-8043)cGa>cAa	p.R2681Q	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2655Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2636Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2636Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2636						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)			CCGTTTTGCCGAGCCCTGTTT	0.552000										HNSCC(33;0.089)			6	73					0	0	0.021553	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	55					0	0	0.014758	0	0
NRAP	4892	broad.mit.edu	37	10	115370307	115370307	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr10:115370307C>A	ENST00000369358.4	-	31	3782	c.3538G>T	c.(3538-3540)Gac>Tac	p.D1180Y	NRAP_ENST00000359988.3_Missense_Mutation_p.D1172Y|NRAP_ENST00000360478.3_Missense_Mutation_p.D1137Y|NRAP_ENST00000369360.3_Missense_Mutation_p.D1145Y			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1172						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AAGTTCAGGTCTGACCGGTAC	0.428000													5	38					0.014758	0.0165028	0.014758	1	0
RIMBP2	23504	broad.mit.edu	37	12	130926460	130926460	+	Silent	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr12:130926460C>A	ENST00000261655.4	-	8	1549	c.1386G>T	c.(1384-1386)ccG>ccT	p.P462P	RIMBP2_ENST00000536002.1_Silent_p.P370P|RIMBP2_ENST00000535703.1_Silent_p.P370P	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	462	Fibronectin type-III 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGAGCTGCCACGGCATCTGGT	0.587000													4	21					0.00024832	0.000333542	0.009096	1	0
TG	7038	broad.mit.edu	37	8	133894758	133894758	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr8:133894758G>T	ENST00000220616.4	+	7	830	c.790G>T	c.(790-792)Ggc>Tgc	p.G264C	TG_ENST00000377869.1_Missense_Mutation_p.G264C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	264	Thyroglobulin type-1 3.				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)		CATTTTTGCTGGCCTGGACCT	0.478000													13	189					2.48551e-13	4.51368e-13	0.033300	1	0
GAD2	2572	broad.mit.edu	37	10	26575390	26575390	+	Silent	SNP	T	T	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr10:26575390T>C	ENST00000376261.3	+	13	1856	c.1353T>C	c.(1351-1353)gaT>gaC	p.D451D	GAD2_ENST00000259271.3_Silent_p.D451D	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	451					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GCCACGTTGATGTTTTTAAAC	0.443000													3	52					0	0	0.004672	0	0
SLC37A2	219855	broad.mit.edu	37	11	124949019	124949019	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr11:124949019G>A	ENST00000403796.2	+	5	627	c.326G>A	c.(325-327)gGg>gAg	p.G109E	SLC37A2_ENST00000298280.5_Missense_Mutation_p.G109E|SLC37A2_ENST00000308074.4_Missense_Mutation_p.G109E|SLC37A2_ENST00000407458.1_Missense_Mutation_p.G109E	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	109					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GGGGTTTTTGGGGAGCGGCTT	0.552000													8	143					0	0	0.058154	0	0
CSMD3	114788	broad.mit.edu	37	8	113562944	113562944	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr8:113562944G>A	ENST00000297405.5	-	27	4764	c.4520C>T	c.(4519-4521)aCg>aTg	p.T1507M	CSMD3_ENST00000343508.3_Missense_Mutation_p.T1467M|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1507M|CSMD3_ENST00000455883.2_Missense_Mutation_p.T1403M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1507	CUB 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAAAAATCCGTGTCAAACTG	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			3	48					0	0	0.004672	0	0
CALCB	797	broad.mit.edu	37	11	15098928	15098928	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr11:15098928C>A	ENST00000523376.1	+	9	1616	c.354C>A	c.(352-354)aaC>aaA	p.N118K	CALCB_ENST00000324229.6_Missense_Mutation_p.N107K|CALCB_ENST00000533448.1_Missense_Mutation_p.N107K			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	107					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TGAAGAGCAACTTCGTGCCCA	0.577000													8	57					0.000157383	0.000220531	0.038147	1	0
FAF1	11124	broad.mit.edu	37	1	51050411	51050411	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:51050411C>G	ENST00000396153.2	-	10	1364	c.913G>C	c.(913-915)Gat>Cat	p.D305H	FAF1_ENST00000371778.4_Missense_Mutation_p.D305H|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Missense_Mutation_p.D63H	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	305					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TCTCCATCATCCACCCCAAAT	0.398000													5	73					0	0	0.021553	0	0
RYR2	6262	broad.mit.edu	37	1	237774219	237774219	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:237774219G>T	ENST00000366574.2	+	36	5158	c.4841G>T	c.(4840-4842)cGc>cTc	p.R1614L	RYR2_ENST00000542537.1_Missense_Mutation_p.R1598L|RYR2_ENST00000360064.6_Missense_Mutation_p.R1612L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1614	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	p.R1612H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATAAGTGAACGCCAAGGCTGG	0.527000													3	22					0.004672	0.00573267	0.004672	1	0
CNKSR2	22866	broad.mit.edu	37	X	21545096	21545096	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chrX:21545096C>A	ENST00000425654.2	+	10	1549	c.1069C>A	c.(1069-1071)Cct>Act	p.P357T	CNKSR2_ENST00000279451.4_Missense_Mutation_p.P357T|CNKSR2_ENST00000379510.3_Missense_Mutation_p.P357T|CNKSR2_ENST00000543067.1_Missense_Mutation_p.P308T	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	357	DUF1170.|Poly-Pro.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TCCCCCTCCTCCTGCAGAACC	0.473000													28	627					6.12954e-19	1.16925e-18	0.024334	1	0
IFNA10	3446	broad.mit.edu	37	9	21206670	21206670	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr9:21206670C>G	ENST00000357374.2	-	1	472	c.427G>C	c.(427-429)Gtg>Ctg	p.V143L		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	143					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		TATTTCCTCACAGCCAGGATG	0.473000													19	284					0	0	0.049695	0	0
LILRA4	23547	broad.mit.edu	37	19	54848136	54848136	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr19:54848136C>T	ENST00000291759.4	-	6	1287	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	411	Ig-like C2-type 4.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TCCAGGGGCTCACTGGGGTGA	0.597000													4	44					0	0	0.014758	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572796	140572796	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr5:140572796G>T	ENST00000239446.4	+	1	855	c.671G>T	c.(670-672)gGg>gTg	p.G224V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		224	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCAGGTCTGGGACCTCTACT	0.552000													5	107					0.014758	0.0165028	0.014758	1	0
ABCG8	64241	broad.mit.edu	37	2	44079539	44079539	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr2:44079539C>A	ENST00000272286.2	+	5	698	c.608C>A	c.(607-609)aCc>aAc	p.T203N		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	203	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGCGCTGACACCCGCGTGGGC	0.667000													5	65					0.0293803	0.0323754	0.029380	1	0
ATP12A	479	broad.mit.edu	37	13	25272964	25272964	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr13:25272964G>T	ENST00000218548.6	+	12	2032	c.1699G>T	c.(1699-1701)Ggc>Tgc	p.G567C	ATP12A_ENST00000381946.3_Missense_Mutation_p.G561C	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	561					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CATGGAGCTGGGCGGGTTGGG	0.632000													7	87					3.86212e-05	5.69286e-05	0.069234	1	0
SLC8A3	6547	broad.mit.edu	37	14	70518747	70518747	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr14:70518747G>C	ENST00000381269.2	-	5	2744	c.1991C>G	c.(1990-1992)cCc>cGc	p.P664R	SLC8A3_ENST00000216568.7_Missense_Mutation_p.P35R|SLC8A3_ENST00000356921.2_Missense_Mutation_p.P658R|SLC8A3_ENST00000534137.1_Missense_Mutation_p.P661R|SLC8A3_ENST00000357887.3_Missense_Mutation_p.P662R|SLC8A3_ENST00000394330.2_Missense_Mutation_p.P21R|SLC8A3_ENST00000528359.1_Missense_Mutation_p.P662R|SLC8A3_ENST00000533541.1_Missense_Mutation_p.P21R	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	664					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTCTAGTTTGGGGTGTTCACC	0.423000													6	77					0	0	0.058154	0	0
NEFL	4747	broad.mit.edu	37	8	24811811	24811811	+	RNA	SNP	G	G	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr8:24811811G>C	ENST00000221169.5	-	0	1647							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTAATTTGTTGATCGTGTCCT	0.358000													7	86					0	0	0.029380	0	0
EXPH5	23086	broad.mit.edu	37	11	108382260	108382260	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr11:108382260G>C	ENST00000265843.4	-	6	4084	c.3974C>G	c.(3973-3975)aCc>aGc	p.T1325S	EXPH5_ENST00000525344.1_Missense_Mutation_p.T1318S|EXPH5_ENST00000428840.1_Missense_Mutation_p.T1249S|EXPH5_ENST00000443411.1_Missense_Mutation_p.T1137S	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1325					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ATTTTCAGTGGTGAGCGTCTG	0.433000													6	45					0	0	0.021553	0	0
ACOT1	641371	broad.mit.edu	37	14	74004293	74004293	+	Silent	SNP	C	C	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr14:74004293C>T	ENST00000311148.4	+	1	476	c.168C>T	c.(166-168)acC>acT	p.T56T	ACOT1_ENST00000557556.1_Silent_p.T56T|HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000334988.2_Intron	NM_001037161.1	NP_001032238.1			acyl-CoA thioesterase 1											endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		GCGCCGACACCCTTGGCGAGC	0.746000													3	38					0	0	0.004672	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120322257	120322257	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr11:120322257C>G	ENST00000397843.2	+	22	2046	c.1880C>G	c.(1879-1881)cCt>cGt	p.P627R	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.P524R|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.P608R	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	627					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GCGCGCCACCCTAAGCACTTA	0.507000			T	MLL	AML								5	50					0	0	0.021553	0	0
CNTN5	53942	broad.mit.edu	37	11	100169930	100169930	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr11:100169930G>T	ENST00000524871.1	+	20	2712	c.2422G>T	c.(2422-2424)Ggc>Tgc	p.G808C	CNTN5_ENST00000528682.1_Missense_Mutation_p.G808C|CNTN5_ENST00000418526.2_Missense_Mutation_p.G734C|CNTN5_ENST00000279463.3_Missense_Mutation_p.G808C|CNTN5_ENST00000527185.1_Missense_Mutation_p.G808C|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	808	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGAAGGCTTCGGCTATATTGT	0.368000													3	26					0.00024832	0.000333542	0.009096	1	0
WDR66	144406	broad.mit.edu	37	12	122361785	122361785	+	Silent	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr12:122361785G>A	ENST00000288912.4	+	3	1490	c.636G>A	c.(634-636)agG>agA	p.R212R	WDR66_ENST00000397454.2_Silent_p.R212R	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	212							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GACAAGAAAGGAGAGTATCCG	0.527000													7	168					0	0	0.047766	0	0
TGFBI	7045	broad.mit.edu	37	5	135383035	135383035	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr5:135383035G>A	ENST00000442011.2	+	6	858	c.697G>A	c.(697-699)Gat>Aat	p.D233N	TGFBI_ENST00000305126.8_Missense_Mutation_p.D233N	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	233	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	p.D233N(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCACCTCATCGATAAGGTCAT	0.557000													23	209					0	0	0.076483	0	0
DNAH5	1767	broad.mit.edu	37	5	13727729	13727729	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr5:13727729C>A	ENST00000265104.4	-	70	12024	c.11920G>T	c.(11920-11922)Gat>Tat	p.D3974Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3974					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)					TTTTCCTTATCAAACCAAATT	0.403000									Kartagener syndrome				5	40					0.014758	0.0165028	0.014758	1	0
FLG2	388698	broad.mit.edu	37	1	152327663	152327663	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:152327663G>C	ENST00000388718.5	-	3	2671	c.2599C>G	c.(2599-2601)Cag>Gag	p.Q867E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	867	Ser-rich.						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)			CCAGATGTCTGTCCCGAACTT	0.498000													11	325					0	0	0.010729	0	0
ZNF669	79862	broad.mit.edu	37	1	247263803	247263803	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:247263803C>A	ENST00000343381.6	-	4	1440	c.1268G>T	c.(1267-1269)tGc>tTc	p.C423F	ZNF669_ENST00000448299.2_Missense_Mutation_p.C337F|ZNF669_ENST00000358785.4_3'UTR	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GGCTTTACCGCATTTCTTACA	0.438000													7	73					0.0381472	0.0416318	0.038147	1	0
PKHD1	5314	broad.mit.edu	37	6	51875202	51875202	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr6:51875202T>C	ENST00000371117.3	-	35	5931	c.5656A>G	c.(5656-5658)Atg>Gtg	p.M1886V	PKHD1_ENST00000340994.4_Missense_Mutation_p.M1886V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1886					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCAGTTTCCATGGTAATGTTA	0.448000													11	118					0	0	0.069234	0	0
TECTA	7007	broad.mit.edu	37	11	120983865	120983865	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr11:120983865G>A	ENST00000392793.1	+	5	842	c.571G>A	c.(571-573)Ggg>Agg	p.G191R	TECTA_ENST00000264037.2_Missense_Mutation_p.G191R			O75443	TECTA_HUMAN	tectorin alpha	191	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGGACCACGGGGACGGCGAG	0.572000											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	16					0	0	0.038147	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	10					0.00909568	0.0107537	0.009096	1	0
MAX	4149	broad.mit.edu	37	14	65550994	65550994	+	Silent	SNP	C	C	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr14:65550994C>T	ENST00000246163.2	-	4	364	c.195G>A	c.(193-195)ttG>ttA	p.L65L	MAX_ENST00000341653.2_Intron|MAX_ENST00000358664.4_Intron|MAX_ENST00000556979.1_Intron|RP11-840I19.3_ENST00000556127.1_RNA|MAX_ENST00000556443.1_Intron|MAX_ENST00000555667.1_Intron|MAX_ENST00000555932.1_Intron|MAX_ENST00000557746.1_Intron|MAX_ENST00000555419.1_Intron|MAX_ENST00000557277.1_Intron|MAX_ENST00000284165.6_Intron|MAX_ENST00000358402.4_Intron	NM_145114.1	NP_660089.1	P61244	MAX_HUMAN	MYC associated factor X	0	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		caggagtacacaatttccaaa	0.308000													10	73					0	0	0.058154	0	0
SPTA1	6708	broad.mit.edu	37	1	158583601	158583601	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:158583601A>G	ENST00000368148.3	-	50	7079	c.6899T>C	c.(6898-6900)cTg>cCg	p.L2300P	SPTA1_ENST00000368147.3_Missense_Mutation_p.L2297P	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2300	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAGTCCTCTCAGGCAGGACCG	0.438000													4	48					0	0	0.009096	0	0
ZIC1	7545	broad.mit.edu	37	3	147128649	147128649	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr3:147128649C>A	ENST00000282928.4	+	1	1479	c.750C>A	c.(748-750)caC>caA	p.H250Q		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	250					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						GCACCATGCACGAGCTAGTTA	0.577000													5	46					1.024e-07	1.74773e-07	0.014758	1	0
F8	2157	broad.mit.edu	37	X	154132272	154132272	+	Silent	SNP	A	A	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chrX:154132272A>G	ENST00000360256.4	-	18	6107	c.5907T>C	c.(5905-5907)aaT>aaC	p.N1969N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1969	F5/8 type A 3.|Plastocyanin-like 6.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGATGTTTTCATTGCTGCCCA	0.413000													11	163					0	0	0.069234	0	0
FAM45B	55855	broad.mit.edu	37	X	129629377	129629377	+	RNA	SNP	T	T	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chrX:129629377T>G	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							TCTTCCATTTTGAAAAAGGTG	0.363000													8	228					0	0	0.047766	0	0
RNF20	56254	broad.mit.edu	37	9	104314692	104314692	+	Silent	SNP	C	C	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr9:104314692C>T	ENST00000389120.3	+	13	1648	c.1558C>T	c.(1558-1560)Ctg>Ttg	p.L520L		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	520					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TAGTGCCCTCCTGCAGTCCCA	0.498000													20	271					0	0	0.069288	0	0
TKTL1	8277	broad.mit.edu	37	X	153556305	153556305	+	Splice_Site	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chrX:153556305G>A	ENST00000369915.3	+	12	1807		c.e12+1		TKTL1_ENST00000217905.7_Splice_Site|TKTL1_ENST00000369912.2_Splice_Site	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1						glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACCCGCAAGGTGTGTGTGGG	0.498000													8	185					0	0	0.038147	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734337	12734337	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chrX:12734337A>T	ENST00000380682.1	+	15	2265	c.1759A>T	c.(1759-1761)Atg>Ttg	p.M587L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	587					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						AGACAGCACCATGTGTCCAAA	0.507000													14	162					0	0	0.020292	0	0
MYH1	4619	broad.mit.edu	37	17	10399401	10399401	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr17:10399401C>A	ENST00000226207.5	-	35	5129	c.5035G>T	c.(5035-5037)Gag>Tag	p.E1679*	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1679						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.E1679K(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCTCTGCGCTCCACCATAGCC	0.582000													15	63					7.93312e-07	1.29555e-06	0.020292	1	0
PCDH20	64881	broad.mit.edu	37	13	61987324	61987324	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr13:61987324C>A	ENST00000409186.1	-	5	3013	c.908G>T	c.(907-909)aGt>aTt	p.S303I	PCDH20_ENST00000409204.4_Missense_Mutation_p.S303I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	276	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GAGAGTGGCACTGCCCAAAAG	0.493000													8	70					0.00448238	0.00559066	0.047766	1	0
ZFC3H1	196441	broad.mit.edu	37	12	72056938	72056938	+	Silent	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr12:72056938G>A	ENST00000378743.3	-	1	811	c.453C>T	c.(451-453)taC>taT	p.Y151Y	ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000552037.1_Silent_p.Y151Y|ZFC3H1_ENST00000548100.1_Silent_p.Y151Y|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	151					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCCCACCCCGGTAAGGCCTGC	0.667000													47	84					0	0	0.048971	0	0
COL14A1	7373	broad.mit.edu	37	8	121237374	121237374	+	Silent	SNP	T	T	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr8:121237374T>A	ENST00000297848.3	+	15	2055	c.1785T>A	c.(1783-1785)ccT>ccA	p.P595P	COL14A1_ENST00000309791.4_Silent_p.P595P|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.P500P|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	595	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)			GCTTGACACCTCTCACAGAGT	0.403000													17	142					0	0	0.038395	0	0
OR2M2	391194	broad.mit.edu	37	1	248343878	248343878	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:248343878G>T	ENST00000359682.2	+	1	591	c.591G>T	c.(589-591)gaG>gaT	p.E197D		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TATTTGAAGAGGTTATTTTCA	0.413000													56	326					4.88482e-21	9.39708e-21	0.048971	1	0
NRXN2	9379	broad.mit.edu	37	11	64434817	64434817	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr11:64434817T>A	ENST00000265459.6	-	9	2164	c.1703A>T	c.(1702-1704)gAc>gTc	p.D568V	NRXN2_ENST00000377551.1_Missense_Mutation_p.D568V|NRXN2_ENST00000377559.3_Missense_Mutation_p.D537V|NRXN2_ENST00000409571.1_Missense_Mutation_p.D561V	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	568	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGATCCCATGTCCAGCAGAAG	0.627000													13	98					0	0	0.013537	0	0
TP53	7157	broad.mit.edu	37	17	7577570	7577570	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr17:7577570C>G	ENST00000420246.2	-	7	843	c.711G>C	c.(709-711)atG>atC	p.M237I	TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000269305.4_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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)		AACTGTTACACATGTAGTTGT	0.567000		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)			15	90					0	0	0.038395	0	0
NCOA6	23054	broad.mit.edu	37	20	33330836	33330836	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr20:33330836C>A	ENST00000374796.2	-	12	5794	c.3224G>T	c.(3223-3225)aGt>aTt	p.S1075I	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1075I			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1075	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GACAGGCACACTGCCACTCTG	0.532000													9	120					0.000274275	0.000366238	0.047766	1	0
PCDHB3	56132	broad.mit.edu	37	5	140481287	140481287	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr5:140481287G>C	ENST00000231130.2	+	1	1054	c.1054G>C	c.(1054-1056)Gta>Cta	p.V352L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		352	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTGTCTTCAGTAAACAGCCC	0.502000													6	40					0	0	0.021553	0	0
OR6X1	390260	broad.mit.edu	37	11	123624624	123624624	+	Silent	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr11:123624624G>A	ENST00000327930.2	-	1	629	c.603C>T	c.(601-603)acC>acT	p.T201T		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCACAAGGATGGTTGCTATGA	0.448000													7	154					0	0	0.029380	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181958	140181958	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr5:140181958C>G	ENST00000522353.2	+	1	1176	c.1176C>G	c.(1174-1176)caC>caG	p.H392Q	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.H392Q	NM_018906.2	NP_061729.1												p.H392H(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGCCCCACGTCCCCTTCA	0.567000													7	66					0	0	0.029380	0	0
RBM3	5935	broad.mit.edu	37	X	48435468	48435468	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chrX:48435468C>A	ENST00000376759.3	+	6	531	c.468C>A	c.(466-468)gaC>gaA	p.D156E	RBM3_ENST00000430348.2_Missense_Mutation_p.T129K|RBM3_ENST00000376755.1_Missense_Mutation_p.D156E|RBM3_ENST00000354480.2_Missense_Mutation_p.T129K|RBM3_ENST00000466764.1_3'UTR	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3	156					positive regulation of translation	dendrite|nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						ACAATTATGACAACTGAAATG	0.423000													5	80					0.014758	0.0165028	0.014758	1	0
ZNF502	91392	broad.mit.edu	37	3	44762440	44762440	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr3:44762440G>T	ENST00000296091.4	+	4	387	c.131G>T	c.(130-132)aGg>aTg	p.R44M	ZNF502_ENST00000436624.2_Missense_Mutation_p.R44M|ZNF502_ENST00000449836.1_Missense_Mutation_p.R44M	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GTAGTAAAGAGGTTCCAAGAG	0.408000													4	49					0.014758	0.0165028	0.014758	1	0
GRAMD1A	57655	broad.mit.edu	37	19	35501038	35501038	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr19:35501038G>A	ENST00000599564.1	+	6	700	c.629G>A	c.(628-630)cGc>cAc	p.R210H	GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R123H|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R123H|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R116H			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	123						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTCCAGGGCCGCCTCTACCTC	0.667000													13	157					0	0	0.020292	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960537	73960537	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chrX:73960537C>A	ENST00000373468.1	-	3	4506	c.3855G>T	c.(3853-3855)ttG>ttT	p.L1285F	KIAA2022_ENST00000055682.5_Missense_Mutation_p.L1285F			Q5QGS0	K2022_HUMAN	KIAA2022	1285					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCTCCTTCCCCAAGGCCCAAT	0.522000													7	90					0.00198382	0.00251579	0.029380	1	0
KCNN2	3781	broad.mit.edu	37	5	113740549	113740549	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr5:113740549G>A	ENST00000512097.3	+	4	2015	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Missense_Mutation_p.E333K			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	333						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CCGAGCTTGTGAAAGGTAAGT	0.348000													19	378					0	0	0.055883	0	0
SYTL4	94121	broad.mit.edu	37	X	99956502	99956502	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chrX:99956502A>G	ENST00000372981.1	-	3	464	c.278T>C	c.(277-279)aTa>aCa	p.I93T	SYTL4_ENST00000276141.6_Missense_Mutation_p.I93T|SYTL4_ENST00000454200.2_Missense_Mutation_p.I93T|SYTL4_ENST00000455616.1_Missense_Mutation_p.I93T|SYTL4_ENST00000372989.1_Missense_Mutation_p.I93T|SYTL4_ENST00000263033.5_Missense_Mutation_p.I93T			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	93	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTTTCCTGTATGCGGCAGTC	0.587000													7	170					0	0	0.038147	0	0
SEMA5B	54437	broad.mit.edu	37	3	122646700	122646700	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr3:122646700A>G	ENST00000195173.4	-	8	1090	c.787T>C	c.(787-789)Tac>Cac	p.Y263H	SEMA5B_ENST00000451055.2_Missense_Mutation_p.Y317H|SEMA5B_ENST00000357599.3_Missense_Mutation_p.Y263H			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	263	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGGCTGCGGTAGATGGCAGGG	0.622000													4	56					0	0	0.014758	0	0
FAM92B	339145	broad.mit.edu	37	16	85144051	85144051	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr16:85144051C>A	ENST00000539556.1	-	2	191	c.36G>T	c.(34-36)agG>agT	p.R12S		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	12										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						TCTCCATCACCCTCACCTGGC	0.617000													3	20					6.4e-05	9.3729e-05	0.004672	1	0
PAMR1	25891	broad.mit.edu	37	11	35454045	35454045	+	Silent	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr11:35454045C>A	ENST00000378880.2	-	11	2467	c.2022G>T	c.(2020-2022)ccG>ccT	p.P674P	PAMR1_ENST00000278360.3_Silent_p.P691P|PAMR1_ENST00000378878.3_Silent_p.P563P|PAMR1_ENST00000532848.1_Silent_p.P634P	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	674	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ATGCTCGTCCCGGGAAGGACA	0.567000													10	85					7.48243e-07	1.23081e-06	0.058154	1	0
CPT1B	1375	broad.mit.edu	37	22	51014749	51014749	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr22:51014749G>A	ENST00000360719.2	-	6	714	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	CPT1B_ENST00000395650.2_Missense_Mutation_p.R193C|CPT1B_ENST00000440709.1_Missense_Mutation_p.R193C|CPT1B_ENST00000457250.1_Missense_Mutation_p.R159C|CPT1B_ENST00000405237.3_Missense_Mutation_p.R193C|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_5'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.R193C	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	193					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|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)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AACAAGGGGCGCACAGACTCT	0.542000											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	19					0	0	0.004672	0	0
NALCN	259232	broad.mit.edu	37	13	101726976	101726976	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr13:101726976C>T	ENST00000251127.6	-	36	4073	c.3992G>A	c.(3991-3993)aGc>aAc	p.S1331N		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1331						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)					CTTGTACATGCTGACGACCAC	0.483000													13	76					0	0	0.016723	0	0
SYNE1	23345	broad.mit.edu	37	6	152722379	152722379	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr6:152722379T>C	ENST00000367255.5	-	47	7524	c.6923A>G	c.(6922-6924)cAa>cGa	p.Q2308R	SYNE1_ENST00000265368.4_Missense_Mutation_p.Q2308R|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q2345R|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q2315R|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q2315R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2308					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTCTCCACTTGTGTACTTTG	0.373000										HNSCC(10;0.0054)			6	64					0	0	0.021553	0	0
MNDA	4332	broad.mit.edu	37	1	158815774	158815774	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:158815774G>T	ENST00000368141.4	+	5	1229	c.968G>T	c.(967-969)gGg>gTg	p.G323V		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	323	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					ATGGTGTATGGGTTGTTTATG	0.323000													10	86					3.27435e-08	5.67388e-08	0.020292	1	0
SH2D4B	387694	broad.mit.edu	37	10	82363385	82363385	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr10:82363385G>T	ENST00000339284.2	+	5	1124	c.694G>T	c.(694-696)Gcc>Tcc	p.A232S	SH2D4B_ENST00000313455.4_Missense_Mutation_p.A183S|SH2D4B_ENST00000470604.2_Missense_Mutation_p.A231S	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	231										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			AGCCCAGCGCGCCCGGGACGA	0.667000													3	12					0.014758	0.0165028	0.014758	1	0
ZNF33A	7581	broad.mit.edu	37	10	38343848	38343848	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr10:38343848C>G	ENST00000374618.3	+	5	974	c.796C>G	c.(796-798)Cag>Gag	p.Q266E	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.Q265E|ZNF33A_ENST00000458705.2_Missense_Mutation_p.Q265E|ZNF33A_ENST00000432900.2_Missense_Mutation_p.Q272E	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	265						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CTTGTTCCATCAGATATCTCC	0.378000													4	41					0	0	0.009096	0	0
OR10A5	144124	broad.mit.edu	37	11	6866970	6866970	+	Silent	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr11:6866970C>A	ENST00000299454.4	+	1	88	c.57C>A	c.(55-57)tcC>tcA	p.S19S	OR10A5_ENST00000379831.2_Silent_p.S23S			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCTTCTCTTCCCTACCTACTG	0.423000													7	229					8.12818e-05	0.000116044	0.029380	1	0
SAMHD1	25939	broad.mit.edu	37	20	35563504	35563504	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr20:35563504T>A	ENST00000262878.4	-	4	636	c.437A>T	c.(436-438)tAc>tTc	p.Y146F	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	146					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)				CTGTTTGATGTATCGAAGACG	0.438000													10	54					0	0	0.069234	0	0
OR4A16	81327	broad.mit.edu	37	11	55111202	55111202	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr11:55111202G>T	ENST00000314721.2	+	1	576	c.526G>T	c.(526-528)Gtc>Ttc	p.V176F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGACCACTCTGTCTGTGACAT	0.443000													9	192					9.70103e-10	1.72042e-09	0.069234	1	0
COMMD2	51122	broad.mit.edu	37	3	149468638	149468638	+	Splice_Site	SNP	T	T	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr3:149468638T>C	ENST00000473414.1	-	4	283	c.228_splice	c.e4-1	p.I77_splice		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	77							protein binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AGTTCAGAAATCTAAGTGAAT	0.294000													7	69					0	0	0.038147	0	0
SLC24A4	123041	broad.mit.edu	37	14	92909097	92909097	+	Silent	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr14:92909097C>A	ENST00000532405.1	+	6	745	c.519C>A	c.(517-519)atC>atA	p.I173I	SLC24A4_ENST00000351924.5_Silent_p.I156I|SLC24A4_ENST00000298877.1_Silent_p.I156I|SLC24A4_ENST00000531433.1_Silent_p.I173I|SLC24A4_ENST00000393265.2_Silent_p.I109I			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	173						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TGGGCACCATCGTGGGCTCTG	0.612000													5	92					0.014758	0.0165028	0.014758	1	0
PYHIN1	149628	broad.mit.edu	37	1	158912098	158912098	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:158912098T>G	ENST00000368140.1	+	5	1156	c.911T>G	c.(910-912)aTc>aGc	p.I304S	PYHIN1_ENST00000368138.3_Missense_Mutation_p.I295S|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.I295S|PYHIN1_ENST00000392254.2_Missense_Mutation_p.I304S	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	304	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CCAAAGGACATCATCAGAAGA	0.363000													4	32					0	0	0.014758	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525752	176525752	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:176525752C>A	ENST00000367662.3	+	2	1458	c.294C>A	c.(292-294)gaC>gaA	p.D98E	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D98E	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	98					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						GCAAACCAGACACTGAAGGAA	0.572000													54	508					3.37225e-12	6.0754e-12	0.048971	1	0
MST1L	11223	broad.mit.edu	37	1	17084510	17084510	+	RNA	SNP	G	G	A	rs61769731	by1000genomes	TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:17084510G>A	ENST00000455405.2	-	0	379																		p.L525L(2)|p.L530L(2)									ACCCGCTGTAGGCCTGGCTCT	0.577000													3	35					0	0	0.009096	0	0
POM121C	100101267	broad.mit.edu	37	7	75070315	75070315	+	Silent	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr7:75070315C>A	ENST00000453279.2	-	5	1008	c.144G>T	c.(142-144)ctG>ctT	p.L48L	POM121C_ENST00000257665.5_Silent_p.L290L	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	290	Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TGAGGGCACTCAGTACAGTCT	0.438000													4	94					0.000602214	0.000781158	0.014758	1	0
TENM1	10178	broad.mit.edu	37	X	123525995	123525995	+	Silent	SNP	C	C	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chrX:123525995C>T	ENST00000422452.2	-	28	5658	c.5595G>A	c.(5593-5595)acG>acA	p.T1865T	TENM1_ENST00000371130.3_Silent_p.T1858T|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTTCATTCCACGTTCCTCTTT	0.393000													7	83					0	0	0.029380	0	0
CACNA1G	8913	broad.mit.edu	37	17	48650200	48650200	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr17:48650200G>T	ENST00000352832.5	+	6	1404	c.1032G>T	c.(1030-1032)tgG>tgT	p.W344C	CACNA1G_ENST00000515165.1_Missense_Mutation_p.W344C|CACNA1G_ENST00000514717.1_Missense_Mutation_p.W344C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.W344C|CACNA1G_ENST00000513689.2_Missense_Mutation_p.W344C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.W344C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.W344C|CACNA1G_ENST00000507336.1_Missense_Mutation_p.W344C|CACNA1G_ENST00000512389.1_Missense_Mutation_p.W344C|CACNA1G_ENST00000515765.1_Missense_Mutation_p.W344C|CACNA1G_ENST00000354983.4_Missense_Mutation_p.W344C|CACNA1G_ENST00000442258.2_Missense_Mutation_p.W344C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.W344C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.W344C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.W344C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.W344C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.W344C|CACNA1G_ENST00000416767.4_Missense_Mutation_p.W344C|CACNA1G_ENST00000359106.5_Missense_Mutation_p.W344C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.W344C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.W344C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.W344C|CACNA1G_ENST00000507609.1_Missense_Mutation_p.W344C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.W344C|CACNA1G_ENST00000514079.1_Missense_Mutation_p.W344C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.W344C	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	344					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)	GCTATGCCTGGATCGCCATCT	0.612000													6	45					0.00307968	0.00386236	0.038147	1	0
PRSS35	167681	broad.mit.edu	37	6	84233710	84233710	+	Silent	SNP	C	C	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr6:84233710C>T	ENST00000536636.1	+	3	895	c.550C>T	c.(550-552)Cta>Tta	p.L184L	PRSS35_ENST00000369700.3_Silent_p.L184L	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	184	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GAGTAAAAAGCTAAGGGTAGG	0.473000													13	80					0	0	0.013537	0	0
FAM216B	144809	broad.mit.edu	37	13	43362849	43362849	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr13:43362849A>G	ENST00000537894.1	+	4	466	c.343A>G	c.(343-345)Aga>Gga	p.R115G	FAM216B_ENST00000313851.1_Missense_Mutation_p.R115G	NM_182508.2	NP_872314.1	Q8N7L0	CM030_HUMAN	family with sequence similarity 216, member B	115																	CATGACAAGAAGATGTCCATC	0.468000													7	42					0	0	0.038147	0	0
FCRL3	115352	broad.mit.edu	37	1	157666025	157666025	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:157666025G>A	ENST00000368184.3	-	7	1228	c.937C>T	c.(937-939)Cag>Tag	p.Q313*	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Nonsense_Mutation_p.Q313*	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	313	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.Q313E(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCTGAACCCTGGGCTACTGAG	0.522000													23	145					0	0	0.021523	0	0
XIRP2	129446	broad.mit.edu	37	2	168114455	168114455	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr2:168114455G>T	ENST00000409728.1	+	11	1587	c.1498G>T	c.(1498-1500)Ggt>Tgt	p.G500C	XIRP2_ENST00000409043.1_Missense_Mutation_p.G467C|XIRP2_ENST00000409605.1_Missense_Mutation_p.G245C|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.G500C|XIRP2_ENST00000409756.2_Missense_Mutation_p.G467C	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						TTATGATGAAGGTTTTGGACA	0.323000													5	49					0.000602214	0.000781158	0.014758	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68222808	68222808	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr14:68222808C>A	ENST00000347230.4	-	36	6781	c.6643G>T	c.(6643-6645)Ggg>Tgg	p.G2215W	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.G61W	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2215					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)		TGTAGCTTCCCACTTTTATAG	0.463000													33	768					1.60099e-16	3.0035e-16	0.074837	1	0
MICU3	286097	broad.mit.edu	37	8	16884850	16884850	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr8:16884850A>C	ENST00000318063.5	+	1	104	c.62A>C	c.(61-63)cAc>cCc	p.H21P		NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3																		CTCTGCGCTCACCAGCCCCTC	0.721000													4	9					0	0	0.058154	0	0
SLC45A2	51151	broad.mit.edu	37	5	33947403	33947403	+	Silent	SNP	C	C	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr5:33947403C>G	ENST00000382102.3	-	6	1290	c.1233G>C	c.(1231-1233)ggG>ggC	p.G411G	SLC45A2_ENST00000296589.4_Silent_p.G411G|SLC45A2_ENST00000342059.3_Silent_p.G352G	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	411					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TAAATCCCGTCCCCAGGCCAA	0.483000													7	250					0	0	0.038147	0	0
APOB	338	broad.mit.edu	37	2	21239330	21239330	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr2:21239330C>A	ENST00000233242.1	-	21	3440	c.3313G>T	c.(3313-3315)Gcc>Tcc	p.A1105S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1105					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.A1105T(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCCATGAGGGCGACCTCAGTA	0.483000													6	86					0.0215528	0.0239827	0.021553	1	0
TDRD6	221400	broad.mit.edu	37	6	46661143	46661143	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr6:46661143A>T	ENST00000544460.1	+	1	5532	c.5278A>T	c.(5278-5280)Att>Ttt	p.I1760F	TDRD6_ENST00000316081.6_Missense_Mutation_p.I1760F	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1760					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGATGTAAACATTATTGGAAC	0.323000													7	74					0	0	0.029380	0	0
SLC1A2	6506	broad.mit.edu	37	11	35308396	35308396	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr11:35308396C>A	ENST00000278379.3	-	8	1476	c.1194G>T	c.(1192-1194)atG>atT	p.M398I	SLC1A2_ENST00000395750.1_Missense_Mutation_p.M389I|SLC1A2_ENST00000606205.1_Missense_Mutation_p.M398I|SLC1A2_ENST00000395753.1_Missense_Mutation_p.M389I	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	398					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	CTGTACCATCCATGTTAATGG	0.473000													12	154					6.81908e-15	1.2688e-14	0.020292	1	0
CENPJ	55835	broad.mit.edu	37	13	25480126	25480126	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr13:25480126C>G	ENST00000381884.4	-	7	2235	c.2050G>C	c.(2050-2052)Gaa>Caa	p.E684Q	CENPJ_ENST00000545981.1_Missense_Mutation_p.E684Q	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	684					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GTCTGATTTTCAGAAGTGCTC	0.438000													8	49					0	0	0.038147	0	0
RP1L1	94137	broad.mit.edu	37	8	10465305	10465305	+	Silent	SNP	T	T	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr8:10465305T>C	ENST00000382483.3	-	4	6526	c.6303A>G	c.(6301-6303)gtA>gtG	p.V2101V		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2101					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGGGCCTCTACACCTTCTG	0.617000													33	383					0	0	0.054565	0	0
SLC22A24	283238	broad.mit.edu	37	11	62910881	62910881	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr11:62910881C>G	ENST00000417740.1	-	1	812	c.371G>C	c.(370-372)aGa>aCa	p.R124T	SLC22A10_ENST00000525620.1_Intron|SLC22A24_ENST00000326192.5_Missense_Mutation_p.R124T	NM_001136506.2	NP_001129978.2			solute carrier family 22, member 24											kidney(1)|stomach(1)	2						GAAAGAGCTTCTGTCGTACAC	0.473000													4	18					0	0	0.009096	0	0
WDR17	116966	broad.mit.edu	37	4	177071008	177071008	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr4:177071008G>T	ENST00000393643.2	+	14	2200	c.1948G>T	c.(1948-1950)Gac>Tac	p.D650Y	WDR17_ENST00000507824.2_Missense_Mutation_p.D657Y|WDR17_ENST00000280190.4_Missense_Mutation_p.D674Y|WDR17_ENST00000508596.1_Missense_Mutation_p.D650Y	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	674										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTGCTCCCGTGACTCTACAGT	0.403000													5	107					5.18039e-06	7.9456e-06	0.038147	1	0
PILRA	29992	broad.mit.edu	37	7	99987613	99987613	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr7:99987613G>T	ENST00000198536.2	+	3	769	c.557G>T	c.(556-558)cGc>cTc	p.R186L	PILRA_ENST00000453419.1_Intron|PILRA_ENST00000350573.2_Intron|PILRA_ENST00000394000.2_Intron	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	186					interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCAAACGACGCTCAGACTCT	0.587000													10	104					3.07112e-06	4.77496e-06	0.010729	1	0
ZNF462	58499	broad.mit.edu	37	9	109694645	109694645	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr9:109694645G>C	ENST00000457913.1	+	5	6400	c.6111G>C	c.(6109-6111)ttG>ttC	p.L2037F	ZNF462_ENST00000441147.2_Missense_Mutation_p.L883F|ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000277225.5_Intron	NM_021224.4	NP_067047.4	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2017					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AACACTGCTTGCTTGATGGAA	0.582000													2	4					0	0	0.004672	0	0
COMMD2	51122	broad.mit.edu	37	3	149468639	149468639	+	Splice_Site	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr3:149468639C>A	ENST00000473414.1	-	4	283		c.e4-1			NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2								protein binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GTTCAGAAATCTAAGTGAATT	0.294000													7	67					0.00307968	0.00386236	0.038147	1	0
PCDHB12	56124	broad.mit.edu	37	5	140589053	140589053	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr5:140589053C>A	ENST00000239450.2	+	1	763	c.574C>A	c.(574-576)Cct>Act	p.P192T	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		192	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAGGAAATACCCTGAGTTAGT	0.463000													5	31					0.014758	0.0165028	0.014758	1	0
IGLV2-8	28817	broad.mit.edu	37	22	23165496	23165496	+	RNA	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr22:23165496C>A	ENST00000390317.2	+	0	229																											CCAGTCTGCCCTGACTCAGCC	0.597000													18	126					5.03518e-11	8.99989e-11	0.043863	1	0
ZIC2	7546	broad.mit.edu	37	13	100635355	100635355	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr13:100635355G>T	ENST00000376335.3	+	1	1330	c.1037G>T	c.(1036-1038)cGc>cTc	p.R346L		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	346					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTCTTCGCGCGCTCCGAGAAC	0.617000													4	21					0.00024832	0.000333542	0.009096	1	0
BMP4	652	broad.mit.edu	37	14	54416809	54416809	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr14:54416809C>A	ENST00000245451.4	-	4	1561	c.1168G>T	c.(1168-1170)Gat>Tat	p.D390Y	BMP4_ENST00000559087.1_Missense_Mutation_p.D390Y|BMP4_ENST00000558984.1_Missense_Mutation_p.D390Y|BMP4_ENST00000417573.1_Missense_Mutation_p.D390Y	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	390					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						ACCACCTTATCATACTCATCC	0.483000													16	144					1.99824e-07	3.36e-07	0.033300	1	0
TTC12	54970	broad.mit.edu	37	11	113222827	113222827	+	Silent	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr11:113222827G>T	ENST00000393020.1	+	16	1749	c.1344G>T	c.(1342-1344)ctG>ctT	p.L448L	TTC12_ENST00000529221.1_Silent_p.L448L|TTC12_ENST00000314756.3_Silent_p.L448L|TTC12_ENST00000483239.2_Silent_p.L454L|TTC12_ENST00000478125.1_3'UTR			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	448							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CCTCGGCTCTGTGCCAGTGCA	0.547000													4	48					0.00024832	0.000333542	0.009096	1	0
DIO3	1735	broad.mit.edu	37	14	102027994	102027994	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr14:102027994G>A	ENST00000510508.4	+	1	307	c.161G>A	c.(160-162)gGc>gAc	p.G54D	DIO3_ENST00000359323.3_Missense_Mutation_p.G28D			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	28					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CGCTTCCTCGGCACGGCCTTC	0.667000													3	34					0	0	0.004672	0	0
OR4L1	122742	broad.mit.edu	37	14	20528810	20528810	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr14:20528810A>T	ENST00000315683.1	+	1	607	c.607A>T	c.(607-609)Agc>Tgc	p.S203C		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CATTGCTGACAGCGGGCTGCT	0.428000													18	125					0	0	0.038395	0	0
ZIC4	84107	broad.mit.edu	37	3	147114209	147114209	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr3:147114209G>T	ENST00000383075.3	-	3	630	c.118C>A	c.(118-120)Ccc>Acc	p.P40T	ZIC4_ENST00000484399.1_Missense_Mutation_p.P40T|ZIC4_ENST00000525172.2_Missense_Mutation_p.P90T|ZIC4_ENST00000473123.1_Missense_Mutation_p.P40T|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.P78T	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	40						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AACACCGAGGGGCTGGAGGCG	0.667000													9	67					2.17888e-05	3.29737e-05	0.058154	1	0
GNAL	2774	broad.mit.edu	37	18	11752922	11752922	+	Silent	SNP	C	C	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr18:11752922C>T	ENST00000334049.6	+	2	1055	c.447C>T	c.(445-447)ccC>ccT	p.P149P	GNAL_ENST00000535121.1_Silent_p.P72P|GNAL_ENST00000269162.5_Silent_p.P72P|GNAL_ENST00000423027.3_Silent_p.P72P	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	72					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GGTTTAATCCCGAGTAAGAAT	0.428000													4	35					0	0	0.009096	0	0
CAMP	820	broad.mit.edu	37	3	48266121	48266121	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr3:48266121C>A	ENST00000296435.2	+	3	503	c.347C>A	c.(346-348)aCc>aAc	p.T116N	CAMP_ENST00000576243.1_Missense_Mutation_p.T113N	NM_004345.4	NP_004336.3	P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	113					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)		GGGACAGTGACCCTCAACCAG	0.552000													8	91					2.17888e-05	3.29737e-05	0.058154	1	0
WDR33	55339	broad.mit.edu	37	2	128476971	128476971	+	Silent	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr2:128476971G>A	ENST00000322313.4	-	16	2786	c.2628C>T	c.(2626-2628)ggC>ggT	p.G876G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	876					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GTCCTTGCATGCCACCCTGGG	0.617000													5	92					0	0	0.021553	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967375	41967375	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr12:41967375A>G	ENST00000298919.7	+	10	2402	c.2014A>G	c.(2014-2016)Atg>Gtg	p.M672V	PDZRN4_ENST00000539469.2_Missense_Mutation_p.M674V|PDZRN4_ENST00000402685.2_Missense_Mutation_p.M932V			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	932							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CGATGACACCATGAGCGAGAT	0.547000													20	116					0	0	0.049695	0	0
MUC16	94025	broad.mit.edu	37	19	9003351	9003351	+	Silent	SNP	A	A	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr19:9003351A>G	ENST00000397910.4	-	50	40287	c.40084T>C	c.(40084-40086)Ttg>Ctg	p.L13362L	MUC16_ENST00000380951.5_Silent_p.L3L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13364	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						TTCTTGAACAAGGGCATAAGC	0.557000													10	118					0	0	0.010729	0	0
HERC6	55008	broad.mit.edu	37	4	89326124	89326124	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr4:89326124A>G	ENST00000380265.5	+	9	1372	c.1189A>G	c.(1189-1191)Agt>Ggt	p.S397G	HERC6_ENST00000264346.7_Missense_Mutation_p.S397G	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	397					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GAAAAGAAGAAGTACTGAACA	0.428000													4	78					0	0	0.009096	0	0
OR2G2	81470	broad.mit.edu	37	1	247752435	247752435	+	Silent	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:247752435C>A	ENST00000320065.1	+	1	774	c.774C>A	c.(772-774)atC>atA	p.I258I	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			atggaaccatcatcttcatgt	0.498000													19	155					1.33834e-09	2.35506e-09	0.043863	1	0
CSMD2	114784	broad.mit.edu	37	1	34037204	34037204	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:34037204T>C	ENST00000373381.4	-	51	8061	c.7885A>G	c.(7885-7887)Act>Gct	p.T2629A		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2631	Sushi 16.					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)				CTTTGGCCAGTATAGTAGTAG	0.572000													4	71					0	0	0.009096	0	0
SPTA1	6708	broad.mit.edu	37	1	158583600	158583600	+	Silent	SNP	C	C	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:158583600C>T	ENST00000368148.3	-	50	7080	c.6900G>A	c.(6898-6900)ctG>ctA	p.L2300L	SPTA1_ENST00000368147.3_Silent_p.L2297L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2300	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGTCCTCTCAGGCAGGACC	0.443000													4	49					0	0	0.009096	0	0
OR4C6	219432	broad.mit.edu	37	11	55433272	55433272	+	Silent	SNP	T	T	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr11:55433272T>C	ENST00000314259.3	+	1	659	c.630T>C	c.(628-630)ctT>ctC	p.L210L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CCATCTTTCTTATCTTAATTG	0.517000													10	156					0	0	0.058154	0	0
LRP1B	53353	broad.mit.edu	37	2	141259288	141259288	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr2:141259288G>A	ENST00000389484.3	-	55	9789	c.8818C>T	c.(8818-8820)Caa>Taa	p.Q2940*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2940	EGF-like 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGACAGTCTTGAGAACATCCA	0.383000										TSP Lung(27;0.18)			3	63					0	0	0.004672	0	0
ARID5B	84159	broad.mit.edu	37	10	63851672	63851672	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr10:63851672G>T	ENST00000279873.7	+	10	2860	c.2450G>T	c.(2449-2451)aGg>aTg	p.R817M	ARID5B_ENST00000309334.5_Missense_Mutation_p.R574M	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	817					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TTAGAGAAAAGGGCCCTCCCC	0.522000													25	124					2.44723e-14	4.51644e-14	0.024334	1	0
QSOX2	169714	broad.mit.edu	37	9	139100623	139100623	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr9:139100623C>A	ENST00000358701.5	-	12	2085	c.2048G>T	c.(2047-2049)cGg>cTg	p.R683L		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	683					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GGACCTCACCCGGAAGAAGAA	0.627000													4	36					0.00909568	0.0107537	0.009096	1	0
BTK	695	broad.mit.edu	37	X	100615129	100615129	+	Silent	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chrX:100615129G>A	ENST00000308731.7	-	9	949	c.786C>T	c.(784-786)ggC>ggT	p.G262G	BTK_ENST00000372880.1_Silent_p.G262G	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	262	SH3.		Missing (in XLA; severe).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAGGAATGTAGCCTTCCTGCC	0.468000									Agammaglobulinemia, X-linked				7	52					0	0	0.058154	0	0
LAMB1	3912	broad.mit.edu	37	7	107626734	107626734	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr7:107626734G>T	ENST00000393561.1	-	4	754	c.570C>A	c.(568-570)ttC>ttA	p.F190L	LAMB1_ENST00000222399.6_Missense_Mutation_p.F166L|LAMB1_ENST00000393560.1_Missense_Mutation_p.F166L			P07942	LAMB1_HUMAN	laminin, beta 1	166	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCATAGGCGAAGTATCTAT	0.448000													7	49					2.0095e-06	3.21237e-06	0.029380	1	0
PCDHA7	56141	broad.mit.edu	37	5	140215067	140215067	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr5:140215067A>G	ENST00000525929.1	+	1	1099	c.1099A>G	c.(1099-1101)Acc>Gcc	p.T367A	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.T367A|PCDHA1_ENST00000394633.3_Intron|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)			CCAACCAGGTACCGTCATCAC	0.507000													5	61					0	0	0.021553	0	0
GALNT14	79623	broad.mit.edu	37	2	31168704	31168704	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr2:31168704A>T	ENST00000349752.5	-	7	1326	c.687T>A	c.(685-687)gaT>gaA	p.D229E	GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Missense_Mutation_p.D194E|GALNT14_ENST00000324589.5_Missense_Mutation_p.D234E|GALNT14_ENST00000356174.3_Missense_Mutation_p.D196E|GALNT14_ENST00000406653.1_Missense_Mutation_p.D209E	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	229						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.D229E(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGTTAATGATATCGATCACAG	0.547000													6	94					0	0	0.038147	0	0
NMBR	4829	broad.mit.edu	37	6	142399949	142399949	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr6:142399949C>A	ENST00000258042.1	-	2	654	c.514G>T	c.(514-516)Gtg>Ttg	p.V172L		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	172					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GCCAGCAACACGGAGACCACC	0.532000													5	83					2.0095e-06	3.21237e-06	0.029380	1	0
OR5T3	390154	broad.mit.edu	37	11	56020000	56020000	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr11:56020000C>A	ENST00000303059.3	+	1	325	c.325C>A	c.(325-327)Cca>Aca	p.P109T		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AGTTGTCACTCCAAAAATGTT	0.368000													10	124					4.68919e-08	8.06398e-08	0.069234	1	0
MYO10	4651	broad.mit.edu	37	5	16681451	16681451	+	Missense_Mutation	SNP	C	C	A	rs142263783	by1000genomes	TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr5:16681451C>A	ENST00000513610.1	-	32	4805	c.4351G>T	c.(4351-4353)Gtc>Ttc	p.V1451F	MYO10_ENST00000274203.9_Missense_Mutation_p.V808F|MYO10_ENST00000427430.2_Missense_Mutation_p.V808F|MYO10_ENST00000505695.1_Missense_Mutation_p.V790F|MYO10_ENST00000515803.1_Missense_Mutation_p.V790F	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1451	PH 2.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCTGGGGGGACGACAGAGCAG	0.527000													9	50					3.86212e-05	5.69286e-05	0.069234	1	0
FBXO43	286151	broad.mit.edu	37	8	101154315	101154315	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr8:101154315A>T	ENST00000428847.2	-	2	483	c.167T>A	c.(166-168)aTt>aAt	p.I56N		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	56					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			GGAGTTGACAATTGGAGGAGA	0.413000													7	74					0	0	0.029380	0	0
SHQ1	55164	broad.mit.edu	37	3	72799500	72799500	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr3:72799500C>A	ENST00000325599.8	-	11	1808	c.1669G>T	c.(1669-1671)Ggc>Tgc	p.G557C	SHQ1_ENST00000468371.1_5'UTR|SHQ1_ENST00000463369.1_Missense_Mutation_p.G529C	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	557					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GCAGTGGTGCCCTTGGGTTCA	0.473000													12	78					3.07112e-06	4.77496e-06	0.010729	1	0
BBS10	79738	broad.mit.edu	37	12	76740088	76740088	+	Silent	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr12:76740088G>A	ENST00000393262.3	-	2	1760	c.1677C>T	c.(1675-1677)taC>taT	p.Y559Y		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	559					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GTAAATTTTCGTAAGAAATTT	0.358000									Bardet-Biedl syndrome				8	101					0	0	0.047766	0	0
FSIP2	401024	broad.mit.edu	37	2	186670439	186670439	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr2:186670439T>C	ENST00000343098.5	+	17	16673	c.16673T>C	c.(16672-16674)aTg>aCg	p.M5558T	FSIP2_ENST00000424728.1_Missense_Mutation_p.M5469T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGAGGTACAATGAATAGAAAG	0.343000													5	67					0	0	0.014758	0	0
NMBR	4829	broad.mit.edu	37	6	142397138	142397138	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr6:142397138A>G	ENST00000258042.1	-	3	960	c.820T>C	c.(820-822)Tgt>Cgt	p.C274R		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	274					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AAGATGAAACAGCCCACAAAG	0.403000													6	118					0	0	0.038147	0	0
PGD	5226	broad.mit.edu	37	1	10477108	10477108	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:10477108G>C	ENST00000538557.1	+	9	1114	c.870G>C	c.(868-870)aaG>aaC	p.K290N	PGD_ENST00000541529.1_Missense_Mutation_p.K281N|PGD_ENST00000498356.1_3'UTR|PGD_ENST00000270776.8_Missense_Mutation_p.K303N			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	303					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CTAGCAAAAAGCTGAAGGGTC	0.478000													15	80					0	0	0.028581	0	0
NPY2R	4887	broad.mit.edu	37	4	156135901	156135901	+	Silent	SNP	G	G	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr4:156135901G>C	ENST00000329476.3	+	2	1299	c.810G>C	c.(808-810)ctG>ctC	p.L270L	NPY2R_ENST00000506608.1_Silent_p.L270L	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	270					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCAAAATGCTGGTGTGTGTGG	0.512000													6	46					0	0	0.021553	0	0
COL15A1	1306	broad.mit.edu	37	9	101797643	101797643	+	Silent	SNP	C	C	A	rs147208600		TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr9:101797643C>A	ENST00000375001.3	+	19	2655	c.2232C>A	c.(2230-2232)ggC>ggA	p.G744G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	744	Nonhelical region 3 (NC3).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ATACCGAAGGCTCTGGAAGCA	0.522000													6	62					8.12818e-05	0.000116044	0.029380	1	0
NFASC	23114	broad.mit.edu	37	1	204939793	204939793	+	Silent	SNP	C	C	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:204939793C>T	ENST00000367172.4	+	11	1381	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	NFASC_ENST00000367169.4_Silent_p.G351G|NFASC_ENST00000401399.1_Silent_p.G351G|NFASC_ENST00000367171.4_Silent_p.G351G|NFASC_ENST00000539706.1_Silent_p.G362G|NFASC_ENST00000403080.1_Silent_p.G351G|NFASC_ENST00000367170.4_Silent_p.G351G|NFASC_ENST00000513543.1_Silent_p.G362G|NFASC_ENST00000404076.1_Silent_p.G345G|NFASC_ENST00000339876.6_Silent_p.G351G|NFASC_ENST00000338515.6_Silent_p.G351G|NFASC_ENST00000338586.6_Silent_p.G351G|NFASC_ENST00000360049.4_Silent_p.G362G|NFASC_ENST00000404907.1_Silent_p.G362G			O94856	NFASC_HUMAN	neurofascin	351	Ig-like C2-type 4.				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)			TGGCTCCTGGCGAGGATGGGA	0.552000													5	30					0	0	0.021553	0	0
FBXL7	23194	broad.mit.edu	37	5	15937147	15937147	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr5:15937147G>T	ENST00000504595.1	+	4	1809	c.1328G>T	c.(1327-1329)gGc>gTc	p.G443V	FBXL7_ENST00000510662.1_Missense_Mutation_p.G396V|FBXL7_ENST00000329673.7_Missense_Mutation_p.G431V	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	443					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AGCATCACCGGCCAGGGCTTG	0.617000													3	31					0.004672	0.00573267	0.004672	1	0
WBSCR17	64409	broad.mit.edu	37	7	70880970	70880970	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr7:70880970G>T	ENST00000333538.5	+	4	1319	c.685G>T	c.(685-687)Gct>Tct	p.A229S	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	229	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCTGATCCGCGCTCGCATTGA	0.577000													6	73					0.0293803	0.0323754	0.029380	1	0
KIF21B	23046	broad.mit.edu	37	1	200960257	200960257	+	Silent	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:200960257C>A	ENST00000332129.2	-	18	2791	c.2475G>T	c.(2473-2475)ctG>ctT	p.L825L	KIF21B_ENST00000360529.5_Silent_p.L825L|KIF21B_ENST00000422435.2_Silent_p.L825L|KIF21B_ENST00000461742.2_Silent_p.L825L	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	825					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						TGGGCTTGGCCAGGCGCCTCA	0.657000													4	26					0.014758	0.0165028	0.014758	1	0
APCS	325	broad.mit.edu	37	1	159558117	159558117	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:159558117C>G	ENST00000255040.2	+	2	388	c.291C>G	c.(289-291)caC>caG	p.H97Q		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	97	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TTGGAAGACACAAAGTTACAT	0.433000													11	108					0	0	0.016723	0	0
DNAH11	8701	broad.mit.edu	37	7	21901488	21901488	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr7:21901488C>A	ENST00000328843.6	+	70	11272	c.11241C>A	c.(11239-11241)ttC>ttA	p.F3747L	DNAH11_ENST00000409508.3_Missense_Mutation_p.F3740L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3747					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACGTGCTGTTCCACAGAGCGA	0.502000									Kartagener syndrome				4	76					0.00024832	0.000333542	0.009096	1	0
SLC45A2	51151	broad.mit.edu	37	5	33947260	33947260	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr5:33947260C>G	ENST00000382102.3	-	6	1433	c.1376G>C	c.(1375-1377)tGt>tCt	p.C459S	SLC45A2_ENST00000296589.4_Intron|SLC45A2_ENST00000342059.3_Intron	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	0					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GGTTCAATGACAGCACACCTC	0.498000													16	368					0	0	0.024245	0	0
IFIH1	64135	broad.mit.edu	37	2	163133379	163133379	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr2:163133379T>C	ENST00000263642.2	-	11	2517	c.2122A>G	c.(2122-2124)Ata>Gta	p.I708V		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	708	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TGCTCCATTATGGTATTTCTT	0.343000													10	148					0	0	0.013537	0	0
TAC3	6866	broad.mit.edu	37	12	57409555	57409555	+	Silent	SNP	G	G	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr12:57409555G>A	ENST00000458521.2	-	2	186	c.27C>T	c.(25-27)gcC>gcT	p.A9A	TAC3_ENST00000415231.1_Silent_p.A9A|TAC3_ENST00000441881.1_Silent_p.A9A	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	9					female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						AGGCCAGGATGGCTGTGAATA	0.567000													8	77					0	0	0.047766	0	0
TRIM17	51127	broad.mit.edu	37	1	228596269	228596269	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:228596269C>T	ENST00000366697.2	-	6	2023	c.1067G>A	c.(1066-1068)gGc>gAc	p.G356D	RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Missense_Mutation_p.G356D|TRIM17_ENST00000295033.3_Missense_Mutation_p.G356D			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	356	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GATGTTCATGCCCACCTCCCA	0.637000													3	33					0	0	0.009096	0	0
DNAH11	8701	broad.mit.edu	37	7	21901489	21901489	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr7:21901489C>A	ENST00000328843.6	+	70	11273	c.11242C>A	c.(11242-11244)Cac>Aac	p.H3748N	DNAH11_ENST00000409508.3_Missense_Mutation_p.H3741N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3748					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGTGCTGTTCCACAGAGCGAT	0.502000									Kartagener syndrome				4	79					0.00024832	0.000333542	0.009096	1	0
ASTN1	460	broad.mit.edu	37	1	177001736	177001736	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:177001736C>T	ENST00000367654.2	-	3	734	c.721G>A	c.(721-723)Ggc>Agc	p.G241S	ASTN1_ENST00000424564.2_Missense_Mutation_p.G241S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.G241S|ASTN1_ENST00000361833.2_Missense_Mutation_p.G241S			O14525	ASTN1_HUMAN	astrotactin 1	241					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TACTCATAGCCGTCCAGGATA	0.637000													9	107					0	0	0.047766	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566147	155566147	+	Silent	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr2:155566147C>A	ENST00000295101.2	+	2	1212	c.735C>A	c.(733-735)ccC>ccA	p.P245P	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	245					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGTTCCTTCCCCTTGACCAAC	0.473000													8	57					0.0381472	0.0416318	0.038147	1	0
NRXN2	9379	broad.mit.edu	37	11	64434819	64434819	+	Silent	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr11:64434819C>A	ENST00000265459.6	-	9	2162	c.1701G>T	c.(1699-1701)ctG>ctT	p.L567L	NRXN2_ENST00000377551.1_Silent_p.L567L|NRXN2_ENST00000377559.3_Silent_p.L536L|NRXN2_ENST00000409571.1_Silent_p.L560L	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	567	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						ATCCCATGTCCAGCAGAAGAT	0.627000													13	100					0.00010058	0.000142698	0.013537	1	0
NPR1	4881	broad.mit.edu	37	1	153659682	153659682	+	Silent	SNP	C	C	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:153659682C>T	ENST00000368680.3	+	13	2414	c.1942C>T	c.(1942-1944)Ctg>Ttg	p.L648L		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	648	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCAGGGCATGCTGTTTCTACA	0.552000													15	80					0	0	0.020292	0	0
OR2T4	127074	broad.mit.edu	37	1	248524934	248524934	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:248524934C>A	ENST00000366475.1	+	1	52	c.52C>A	c.(52-54)Ctg>Atg	p.L18M		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			GGATTTCATCCTGATGGGACT	0.488000													6	54					3.59834e-05	5.37383e-05	0.021553	1	0
PRSS35	167681	broad.mit.edu	37	6	84233303	84233303	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr6:84233303C>T	ENST00000536636.1	+	3	488	c.143C>T	c.(142-144)cCc>cTc	p.P48L	PRSS35_ENST00000369700.3_Missense_Mutation_p.P48L	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	48					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CTCACCAGCCCCGCATTTGAG	0.463000													7	103					0	0	0.029380	0	0
ANKHD1	54882	broad.mit.edu	37	5	139917753	139917753	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr5:139917753A>C	ENST00000297183.6	+	32	7435	c.7311A>C	c.(7309-7311)caA>caC	p.Q2437H	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.Q2437H|ANKHD1_ENST00000544120.1_Missense_Mutation_p.Q761H|ANKHD1_ENST00000360839.2_Missense_Mutation_p.Q2437H	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTCTCCCAACATCAGCCAA	0.423000													10	201					0	0	0.069234	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946336	16946336	+	RNA	SNP	G	G	A	rs11586784	by1000genomes	TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:16946336G>A	ENST00000412962.1	-	0	1183																											CAGGGCTCACGAACCTGCTGC	0.662000													3	12					0	0	0.009096	0	0
BAI1	575	broad.mit.edu	37	8	143623464	143623464	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr8:143623464G>T	ENST00000517894.1	+	28	4763	c.3869G>T	c.(3868-3870)gGc>gTc	p.G1290V	BAI1_ENST00000323289.5_Missense_Mutation_p.G1290V			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1290					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CACCTGCACGGCTCACCCCGC	0.662000													4	21					2.56e-06	4.06378e-06	0.009096	1	0
HRASLS5	117245	broad.mit.edu	37	11	63233599	63233599	+	Missense_Mutation	SNP	C	C	T	rs139644791	by1000genomes	TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr11:63233599C>T	ENST00000540857.1	-	5	832	c.700G>A	c.(700-702)Gta>Ata	p.V234I	HRASLS5_ENST00000539221.1_Intron|HRASLS5_ENST00000301790.4_Missense_Mutation_p.V244I	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	244										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTCCGGGGTACGCCATATCTG	0.473000													6	76					0	0	0.021553	0	0
LVRN	206338	broad.mit.edu	37	5	115335601	115335601	+	Splice_Site	SNP	T	T	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr5:115335601T>A	ENST00000357872.4	+	7	1639		c.e7+2		AQPEP_ENST00000395528.2_Splice_Site	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN							proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TACAGCAAGGTAAAAGCAGTT	0.358000													4	80					0	0	0.014758	0	0
CSMD2	114784	broad.mit.edu	37	1	34006740	34006740	+	Silent	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:34006740G>T	ENST00000373381.4	-	59	9623	c.9447C>A	c.(9445-9447)ccC>ccA	p.P3149P		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3121	Sushi 25.					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)				CTTTGCAGACGGGCTTGGTTC	0.502000													4	110					5.18039e-06	7.9456e-06	0.038147	1	0
NHS	4810	broad.mit.edu	37	X	17750408	17750408	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chrX:17750408G>C	ENST00000380060.3	+	8	5055	c.4717G>C	c.(4717-4719)Gcc>Ccc	p.A1573P	NHS_ENST00000398097.3_Missense_Mutation_p.A1417P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1573						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GAAGAGCTTTGCCACCTCAGC	0.597000													5	65					0	0	0.014758	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985530	140985530	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chrX:140985530C>A	ENST00000298296.1	+	8	1844	c.1844C>A	c.(1843-1845)gCc>gAc	p.A615D	MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000409007.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	615	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGACAGAGCCCAGGCCATA	0.478000													7	96					8.12818e-05	0.000116044	0.029380	1	0
SMYD1	150572	broad.mit.edu	37	2	88405918	88405918	+	Silent	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr2:88405918G>T	ENST00000419482.2	+	8	1141	c.1056G>T	c.(1054-1056)cgG>cgT	p.R352R	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.R339R	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						ACATGCTGCGGATGCTGAGCA	0.547000													5	89					0.00116845	0.00149851	0.021553	1	0
GPR125	166647	broad.mit.edu	37	4	22394315	22394315	+	Splice_Site	SNP	T	T	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr4:22394315T>A	ENST00000334304.5	-	17	2751		c.e17-2		GPR125_ENST00000282943.5_Splice_Site	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125						neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TATCCCAACCTACAAGGAAGA	0.358000													6	52					0	0	0.021553	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296638	39296638	+	Silent	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr17:39296638G>T	ENST00000345847.4	-	1	101	c.102C>A	c.(100-102)acC>acA	p.T34T		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	34	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCGGCAGCAGGTGGTCCTGC	0.667000													14	97					2.54575e-18	4.81571e-18	0.055883	1	0
ESRRB	2103	broad.mit.edu	37	14	76906060	76906060	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr14:76906060G>T	ENST00000380887.2	+	2	436	c.364G>T	c.(364-366)Gct>Tct	p.A122S	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000509242.1_Missense_Mutation_p.A122S|ESRRB_ENST00000556177.1_Missense_Mutation_p.A122S|ESRRB_ENST00000261532.7_Missense_Mutation_p.A122S			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	122						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CTCCTGCGAGGCTTGCAAGGC	0.647000													4	48					0.014758	0.0165028	0.014758	1	0
ANO10	55129	broad.mit.edu	37	3	43641905	43641905	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr3:43641905C>T	ENST00000292246.3	-	3	478	c.308G>A	c.(307-309)aGa>aAa	p.R103K	ANO10_ENST00000396091.3_Intron|ANO10_ENST00000414522.2_Missense_Mutation_p.R103K|ANO10_ENST00000451430.2_Intron|ANO10_ENST00000350459.4_Missense_Mutation_p.R103K	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	103					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CTGTCTGGTTCTGTATGTGAA	0.393000													31	397					0	0	0.064281	0	0
NCR3	259197	broad.mit.edu	37	6	31556974	31556974	+	Silent	SNP	G	G	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr6:31556974G>C	ENST00000376073.4	-	4	794	c.531C>G	c.(529-531)ctC>ctG	p.L177L	NCR3_ENST00000340027.5_Intron|NCR3_ENST00000491161.1_5'UTR	NM_001145466.1	NP_001138938.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	0					cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity			cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						GGAAAGTTCAGAGTTGGGGGA	0.552000													9	58					0	0	0.047766	0	0
TMEM43	79188	broad.mit.edu	37	3	14174425	14174425	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr3:14174425A>G	ENST00000306077.4	+	6	756	c.502A>G	c.(502-504)Aaa>Gaa	p.K168E		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	168			K -> N (in dbSNP:rs4685076).			endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						GATTGGCCACAAAAACCCCAG	0.512000													5	39					0	0	0.021553	0	0
SSPN	8082	broad.mit.edu	37	12	26383940	26383940	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr12:26383940C>A	ENST00000242729.2	+	3	840	c.663C>A	c.(661-663)taC>taA	p.Y221*	RP11-283G6.5_ENST00000537525.1_RNA|RP11-283G6.4_ENST00000540392.1_RNA|RP11-283G6.5_ENST00000540625.1_RNA|SSPN_ENST00000535504.1_Intron|SSPN_ENST00000422622.2_Nonsense_Mutation_p.Y118*|SSPN_ENST00000540266.1_Nonsense_Mutation_p.Y118*	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	221					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					AACATAGGTACCAGGTCTTCT	0.473000													5	58					0.014758	0.0165028	0.014758	1	0
SLC30A10	55532	broad.mit.edu	37	1	220101687	220101687	+	Silent	SNP	G	G	T	rs138123249		TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:220101687G>T	ENST00000366926.3	-	1	257	c.96C>A	c.(94-96)ggC>ggA	p.G32G	SLC30A10_ENST00000536992.1_Silent_p.G32G|SLC30A10_ENST00000536446.1_Intron	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	32					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CGATGGAGTTGCCCAGGTAGC	0.667000													4	21					0.00909568	0.0107537	0.009096	1	0
LEMD1	93273	broad.mit.edu	37	1	205389589	205389589	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:205389589T>C	ENST00000367153.4	-	2	178	c.76A>G	c.(76-78)Ata>Gta	p.I26V	LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367149.3_Missense_Mutation_p.I26V|LEMD1_ENST00000367151.2_Missense_Mutation_p.I26V|LEMD1_ENST00000367152.1_Missense_Mutation_p.I26V|LEMD1_ENST00000367154.1_Missense_Mutation_p.I26V|LEMD1_ENST00000391936.2_Missense_Mutation_p.I26V	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	26	LEM.					integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			ATACGTAGTATTGGGCCAGGT	0.368000													9	66					0	0	0.047766	0	0
XKR6	286046	broad.mit.edu	37	8	10782281	10782281	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr8:10782281C>A	ENST00000416569.2	-	2	850	c.824G>T	c.(823-825)cGc>cTc	p.R275L	XKR6_ENST00000304437.2_5'UTR	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	275						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CCAGTAGAAGCGTCGCTGGTG	0.577000													4	72					0.00909568	0.0107537	0.009096	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29938087	29938087	+	Silent	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chrX:29938087G>T	ENST00000378993.1	+	8	1606	c.933G>T	c.(931-933)ggG>ggT	p.G311G	IL1RAPL1_ENST00000302196.4_Silent_p.G311G	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	311	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AGCATCTTGGGGAACAGGAAG	0.378000													8	155					0.000442599	0.000584128	0.058154	1	0
ARID1B	57492	broad.mit.edu	37	6	157521869	157521869	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr6:157521869G>T	ENST00000346085.5	+	18	4142	c.4141G>T	c.(4141-4143)Ggg>Tgg	p.G1381W	ARID1B_ENST00000275248.4_Missense_Mutation_p.G1363W|ARID1B_ENST00000367148.1_Missense_Mutation_p.G1421W|ARID1B_ENST00000350026.5_Missense_Mutation_p.G1368W	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1368					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGGCATGTACGGGCCCCCAGC	0.507000													3	50					0.004672	0.00573267	0.004672	1	0
OR4S1	256148	broad.mit.edu	37	11	48328542	48328542	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr11:48328542C>A	ENST00000319988.1	+	1	768	c.768C>A	c.(766-768)taC>taA	p.Y256*		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGTTCATGTACATTCGTCCCT	0.483000													15	146					1.15088e-07	1.94962e-07	0.028581	1	0
DDX50	79009	broad.mit.edu	37	10	70694586	70694586	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr10:70694586G>T	ENST00000373585.3	+	10	1540	c.1433G>T	c.(1432-1434)cGc>cTc	p.R478L	DDX50_ENST00000466265.1_Intron	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	478	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						CGCTCTGGACGCACAGGTAGA	0.363000													9	87					0.00621372	0.00754285	0.058154	1	0
RCSD1	92241	broad.mit.edu	37	1	167666491	167666491	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:167666491G>T	ENST00000367854.3	+	6	961	c.630G>T	c.(628-630)aaG>aaT	p.K210N	RCSD1_ENST00000537350.1_Missense_Mutation_p.K180N	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	210										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					TGCCATCCAAGAGCAAGGCCC	0.572000													11	113					2.27111e-07	3.76308e-07	0.013537	1	0
TSHZ1	10194	broad.mit.edu	37	18	72998360	72998360	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr18:72998360A>T	ENST00000322038.5	+	2	1447	c.863A>T	c.(862-864)cAg>cTg	p.Q288L	TSHZ1_ENST00000580243.1_Missense_Mutation_p.Q333L	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	333						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)		AAGCATTACCAGAAAGTGCCT	0.572000													7	81					0	0	0.029380	0	0
ZNF552	79818	broad.mit.edu	37	19	58319635	58319635	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr19:58319635A>G	ENST00000391701.1	-	3	1166	c.997T>C	c.(997-999)Ttt>Ctt	p.F333L	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTGTGGGTAAATGACTTCCCA	0.448000													7	69					0	0	0.029380	0	0
TBC1D32	221322	broad.mit.edu	37	6	121624901	121624901	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr6:121624901C>A	ENST00000275159.6	-	9	941	c.942G>T	c.(940-942)atG>atT	p.M314I	TBC1D32_ENST00000398212.2_Missense_Mutation_p.M314I					TBC1 domain family, member 32																		CAATTTCTTCCATATACCTTA	0.308000													4	35					0.00909568	0.0107537	0.009096	1	0
KRT73	319101	broad.mit.edu	37	12	53012018	53012018	+	Silent	SNP	C	C	T	rs142655706	byFrequency	TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr12:53012018C>T	ENST00000305748.3	-	1	325	c.291G>A	c.(289-291)tcG>tcA	p.S97S		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	97	Gly-rich.|Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGGCACAACGACGGACACA	0.637000													9	104					0	0	0.047766	0	0
AADACL4	343066	broad.mit.edu	37	1	12726397	12726397	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr1:12726397A>T	ENST00000376221.1	+	4	875	c.875A>T	c.(874-876)aAg>aTg	p.K292M		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	292						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		AACATCCCCAAGAAATTTAAG	0.507000													8	66					0	0	0.038147	0	0
LYSMD2	256586	broad.mit.edu	37	15	52017211	52017211	+	Silent	SNP	T	T	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr15:52017211T>C	ENST00000267838.3	-	2	895	c.381A>G	c.(379-381)ggA>ggG	p.G127G	LYSMD2_ENST00000454181.2_Silent_p.G36G|LYSMD2_ENST00000560491.1_Silent_p.G36G|LYSMD2_ENST00000558126.1_Intron	NM_153374.2	NP_699205.1	Q8IV50	LYSM2_HUMAN	LysM, putative peptidoglycan-binding, domain containing 2	127					cell wall macromolecule catabolic process					lung(2)|upper_aerodigestive_tract(1)	3				all cancers(107;0.00258)		TGGAGTTAAGTCCATTAAACA	0.408000													6	111					0	0	0.021553	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216282	20216282	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr14:20216282G>T	ENST00000331723.1	+	1	696	c.696G>T	c.(694-696)caG>caT	p.Q232H		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q232Q(1)|p.Q232H(1)		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)		ACTTCTGCCAGGGCCAGAACA	0.488000													13	97					2.27111e-07	3.76308e-07	0.013537	1	0
INPP4B	8821	broad.mit.edu	37	4	143067124	143067124	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr4:143067124delT	ENST00000513000.1	-	19	2022	c.1589delA	c.(1588-1590)agfs	p.K530fs	INPP4B_ENST00000508116.1_Frame_Shift_Del_p.K530fs|INPP4B_ENST00000262992.4_Frame_Shift_Del_p.K530fs|INPP4B_ENST00000509777.1_Frame_Shift_Del_p.K530fs|INPP4B_ENST00000308502.4_Frame_Shift_Del_p.K530fs	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	530					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)					GTTCAGGCTCTTCCCCACATT	0.423													61	435	---	---	---	---					
LHX6	26468	broad.mit.edu	37	9	124989761	124989762	+	Splice_Site	INS	-	-	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr9:124989761_124989762insG	ENST00000394319.4	-	2	189		c.e2-2		LHX6_ENST00000541397.2_Splice_Site|LHX6_ENST00000559529.1_Splice_Site|LHX6_ENST00000373754.2_5'UTR|LHX6_ENST00000340587.3_Splice_Site|LHX6_ENST00000373755.2_5'UTR	NM_014368.4	NP_055183.2	Q9UPM6	LHX6_HUMAN	LIM homeobox 6						cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						GGCCATCACCTGGGGGAGGGGG	0.713													2	4	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11545949	11545951	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr12:11545949_11545951delTGC	ENST00000389362.4	-	3	1096_1098	c.1061_1063delGCA	c.(1060-1065)aag>a	p.SK354del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTCGGGACTTGCTGCCTCCTTG	0.601													7	1152	---	---	---	---					
SEC14L5	9717	broad.mit.edu	37	16	5061151	5061152	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr16:5061151_5061152insC	ENST00000251170.7	+	15	2036_2037	c.1856_1857insC	c.(1855-1857)accfs	p.T619fs	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	619	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CAAATGCACAGCCCCCCCAGCA	0.663													3	6	---	---	---	---					
LGI4	163175	broad.mit.edu	37	19	35617603	35617604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr19:35617603_35617604insC	ENST00000392225.3	-	7	1465_1466	c.946_947insG	c.(946-948)tcafs	p.S316fs	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000310123.3_Frame_Shift_Ins_p.V290fs			Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	0						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			ACAGCTGTGAGCCCCCCCACAG	0.748													2	4	---	---	---	---					
CDH4	1002	broad.mit.edu	37	20	60511945	60511946	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z052-01A-01W-0747-08	TCGA-17-Z052-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afdf7c82-2a17-4c73-980c-74ec822dc803	8bd2cb0f-597b-4a83-96e5-a1c8dd3add61	g.chr20:60511945_60511946insG	ENST00000360469.5	+	16	2783_2784	c.2695_2696insG	c.(2695-2697)gggfs	p.G899fs	CDH4_ENST00000543233.1_Frame_Shift_Ins_p.G825fs	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	899					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCTCAACGACTGGGGGCCCAGA	0.599													2	4	---	---	---	---					
