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
PPP1R3D	5509	broad.mit.edu	37	20	58514323	58514323	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr20:58514323G>A	ENST00000370996.3	-	1	1029	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	222	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	p.R222W(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CCGCGCCACCGCGCCACCGCC	0.682000													6	59					0	0	0.069234	0	0
WDHD1	11169	broad.mit.edu	37	14	55493428	55493428	+	Splice_Site	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr14:55493428C>A	ENST00000360586.3	-	2	143		c.e2+1		WDHD1_ENST00000420358.2_Intron|WDHD1_ENST00000421192.1_Splice_Site	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1							cytoplasm|nucleoplasm	DNA binding	p.?(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						AAGAACCTTACCTCCCAGAAT	0.403000													18	168					3.03874e-20	4.3826e-20	0.059317	1	0
MROH7	374977	broad.mit.edu	37	1	55119167	55119167	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:55119167G>T	ENST00000414150.2	+	3	846	c.568G>T	c.(568-570)Ggc>Tgc	p.G190C	MROH7_ENST00000545244.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.G190C|MROH7_ENST00000421030.2_Missense_Mutation_p.G190C|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.G190C					maestro heat-like repeat family member 7									p.G190C(2)									TCTGGTTCTGGGCCACTGCAT	0.458000													87	50					2.93434e-44	5.0684e-44	0.048971	1	0
NAPRT1	93100	broad.mit.edu	37	8	144657383	144657383	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr8:144657383C>A	ENST00000449291.2	-	11	1718	c.1424G>T	c.(1423-1425)cGg>cTg	p.R475L	NAPRT1_ENST00000276844.7_Missense_Mutation_p.R475L|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000460623.1_Intron|NAPRT1_ENST00000435154.3_Missense_Mutation_p.R475L|NAPRT1_ENST00000426292.3_Intron			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	475					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	p.R451L(1)|p.R475L(1)		endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGGCAGAGCCGCAGTAGTGG	0.687000													6	6					0.000978159	0.00105026	0.080935	1	0
FANCA	2175	broad.mit.edu	37	16	89818580	89818580	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr16:89818580C>T	ENST00000389301.3	-	31	3062	c.3032G>A	c.(3031-3033)cGc>cAc	p.R1011H	FANCA_ENST00000568369.1_Missense_Mutation_p.R1011H	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1011					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	p.R1011H(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		ATTTCCTGTGCGGCCACCAAA	0.408000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	304					0	0	0.021553	0	0
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	A	rs121913233		TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:533874T>A	ENST00000417302.1	-	3	369	c.182A>T	c.(181-183)cAg>cTg	p.Q61L	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61L|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597000	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			75	117					0	0	0.048971	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256985	69256985	+	Silent	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr14:69256985C>T	ENST00000439696.2	-	2	583	c.282G>A	c.(280-282)ggG>ggA	p.G94G	ZFP36L1_ENST00000336440.3_Silent_p.G94G|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	94					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G94G(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCCGCTCGCCCCCTTCCGAGA	0.672000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	9					0	0	0.048971	0	0
FANCF	2188	broad.mit.edu	37	11	22646877	22646877	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:22646877G>C	ENST00000327470.3	-	1	510	c.480C>G	c.(478-480)gaC>gaG	p.D160E	AC103801.2_ENST00000428556.2_5'UTR	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	160					DNA repair	nucleoplasm	protein binding	p.D160E(1)		kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						TCATCAGAGAGTCCTCCTGGA	0.637000			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	519					0	0	0.029380	0	0
SEMA6B	10501	broad.mit.edu	37	19	4552480	4552480	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:4552480C>A	ENST00000586582.1	-	10	1253	c.943G>T	c.(943-945)Ggg>Tgg	p.G315W	SEMA6B_ENST00000301293.3_Missense_Mutation_p.G315W|SEMA6B_ENST00000586965.1_Missense_Mutation_p.G315W	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	315	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.G315W(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGGCCCCCGAGGCTGACC	0.627000													4	7					7.48243e-07	8.58221e-07	0.058154	1	0
ZIC4	84107	broad.mit.edu	37	3	147108911	147108911	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:147108911A>T	ENST00000383075.3	-	4	1323	c.811T>A	c.(811-813)Tgc>Agc	p.C271S	ZIC4_ENST00000473123.1_Missense_Mutation_p.C271S|ZIC4_ENST00000425731.3_Missense_Mutation_p.C309S|ZIC4_ENST00000525172.2_Missense_Mutation_p.C321S|ZIC4_ENST00000484399.1_Missense_Mutation_p.C271S|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Missense_Mutation_p.C65S	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	271						nucleus	DNA binding|zinc ion binding	p.C271S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CACTTGTCGCAGCCCCGCACC	0.642000													24	31					0	0	0.030593	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996185	57996185	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:57996185T>G	ENST00000316770.2	-	1	205	c.163A>C	c.(163-165)Aca>Cca	p.T55P		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T55P(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GTGCTGTGTGTGCACACCACC	0.522000													51	95					0	0	0.048971	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836257	12836257	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:12836257C>T	ENST00000357726.4	+	2	886	c.859C>T	c.(859-861)Ctc>Ttc	p.L287F		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	287								p.L287F(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGACCAGCTGCTCAGGTGAGG	0.493000													24	176					0	0	0.099896	0	0
HELZ2	85441	broad.mit.edu	37	20	62192981	62192981	+	Missense_Mutation	SNP	C	C	T	rs143065747		TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr20:62192981C>T	ENST00000467148.1	-	12	6878	c.6809G>A	c.(6808-6810)cGg>cAg	p.R2270Q	HELZ2_ENST00000427522.2_Missense_Mutation_p.R1701Q	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator									p.R2270Q(1)|p.R2270L(1)									CCTCCCCTCCCGGGGGCTCTT	0.657000													112	221					0	0	0.048971	0	0
ARFIP1	27236	broad.mit.edu	37	4	153750861	153750861	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr4:153750861G>T	ENST00000451320.2	+	2	240	c.76G>T	c.(76-78)Gaa>Taa	p.E26*	ARFIP1_ENST00000429148.2_Nonsense_Mutation_p.E26*|ARFIP1_ENST00000353617.2_Nonsense_Mutation_p.E26*|ARFIP1_ENST00000356064.3_Nonsense_Mutation_p.E26*|ARFIP1_ENST00000405727.2_Nonsense_Mutation_p.E26*			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	26					intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		p.E26*(2)	ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					TGACTCTCGTGAACATAGCTT	0.338000													20	57					8.34094e-07	9.54186e-07	0.049695	1	0
TMTC1	83857	broad.mit.edu	37	12	29670472	29670472	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:29670472A>C	ENST00000256062.5	-	14	2206	c.1733T>G	c.(1732-1734)tTg>tGg	p.L578W	TMTC1_ENST00000552618.1_Missense_Mutation_p.L710W|TMTC1_ENST00000551659.1_Missense_Mutation_p.L748W|TMTC1_ENST00000539277.1_Missense_Mutation_p.L686W|TMTC1_ENST00000319685.8_5'UTR	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	686						integral to membrane	binding	p.L578W(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CAAAGGTGACAATATCTCAGC	0.463000													50	118					0	0	0.048971	0	0
MCM2	4171	broad.mit.edu	37	3	127337904	127337904	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:127337904A>G	ENST00000265056.7	+	13	2292	c.2048A>G	c.(2047-2049)cAc>cGc	p.H683R	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	683					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	p.H683R(1)		ovary(3)|skin(2)|stomach(1)	6						GTGGGCAGCCACGTCAGACAC	0.642000													14	15					0	0	0.055883	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072655	17072655	+	Silent	SNP	A	A	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr22:17072655A>G	ENST00000359963.3	-	1	1045	c.786T>C	c.(784-786)tcT>tcC	p.S262S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	262					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.S262S(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGCAGGACTAGAAAGACGGG	0.507000													9	203					0	0	0.069234	0	0
TRAT1	50852	broad.mit.edu	37	3	108557802	108557802	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:108557802G>T	ENST00000295756.6	+	3	370	c.140G>T	c.(139-141)aGt>aTt	p.S47I	TRAT1_ENST00000426646.1_Missense_Mutation_p.S10I|TRAT1_ENST00000493604.1_3'UTR	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	47					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.S47I(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGCTACTCCAGTGACCACACC	0.333000													34	48					4.32679e-17	5.94594e-17	0.092188	1	0
SCUBE3	222663	broad.mit.edu	37	6	35210036	35210036	+	Silent	SNP	A	A	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:35210036A>G	ENST00000274938.7	+	13	1473	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	SCUBE3_ENST00000394681.1_Silent_p.K507K	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	491					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	p.K491K(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGGATGCCAAATGCCGTTTGC	0.542000													56	277					0	0	0.048971	0	0
GRB14	2888	broad.mit.edu	37	2	165364995	165364995	+	Silent	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:165364995C>T	ENST00000263915.3	-	8	1531	c.993G>A	c.(991-993)acG>acA	p.T331T	GRB14_ENST00000543549.1_Silent_p.T244T	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	331	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	p.T331T(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TCACCCAGCACGTCCTACTCT	0.458000													8	42					0	0	0.038147	0	0
HOXB3	3213	broad.mit.edu	37	17	46627838	46627838	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr17:46627838T>G	ENST00000470495.1	-	2	2601	c.1154A>C	c.(1153-1155)gAc>gCc	p.D385A	HOXB3_ENST00000498678.1_Missense_Mutation_p.D385A|HOXB3_ENST00000489475.1_Missense_Mutation_p.D312A|HOXB3_ENST00000490677.1_Missense_Mutation_p.D251A|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.D253A|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000476342.1_Missense_Mutation_p.D385A|HOXB3_ENST00000311626.4_Missense_Mutation_p.D385A|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.D253A|HOXB3_ENST00000472863.1_Missense_Mutation_p.D312A|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	385					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D385A(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CCCGTTGTAGTCCAGGTTCCC	0.697000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	155					0	0	0.014758	0	0
WDR72	256764	broad.mit.edu	37	15	54015097	54015097	+	Silent	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr15:54015097C>T	ENST00000396328.1	-	3	401	c.162G>A	c.(160-162)gcG>gcA	p.A54A	WDR72_ENST00000360509.5_Silent_p.A54A|WDR72_ENST00000557913.1_Silent_p.A54A|WDR72_ENST00000559418.1_Silent_p.A54A	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	54								p.A54A(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GGAGTTCTTTCGCTGAAATCT	0.353000													20	102					0	0	0.069288	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120352136	120352136	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:120352136C>A	ENST00000397843.2	+	39	4571	c.4405C>A	c.(4405-4407)Cca>Aca	p.P1469T	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.P1366T|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.P1450T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1469					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	p.P1469T(1)		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)		GGCAATTTCACCATTCACCCC	0.537000			T	MLL	AML								23	108					1.50538e-07	1.74496e-07	0.030593	1	0
CSN1S1	1446	broad.mit.edu	37	4	70804920	70804920	+	Silent	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr4:70804920G>A	ENST00000246891.4	+	10	319	c.270G>A	c.(268-270)tcG>tcA	p.S90S	CSN1S1_ENST00000505782.1_Silent_p.S82S|CSN1S1_ENST00000507763.1_Silent_p.S89S|CSN1S1_ENST00000507772.1_Silent_p.S90S|CSN1S1_ENST00000444405.3_Silent_p.S89S	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	90						extracellular region	protein binding|transporter activity	p.S90S(1)		lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						TCAGTTCATCGAGTGAGGTAA	0.323000													9	54					0	0	0.058154	0	0
ANKRD13D	338692	broad.mit.edu	37	11	67058967	67058967	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:67058967G>C	ENST00000447274.2	+	4	1286	c.111G>C	c.(109-111)gaG>gaC	p.E37D	ANKRD13D_ENST00000308440.6_Missense_Mutation_p.E37D|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.E124D|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.E37D			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	37								p.E124D(1)|p.E37D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCTACGTTGAGATGAAGTGGG	0.627000													18	99					0	0	0.069288	0	0
NID2	22795	broad.mit.edu	37	14	52534674	52534674	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr14:52534674G>A	ENST00000216286.5	-	2	435	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	NID2_ENST00000541773.1_Missense_Mutation_p.R93C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	146	NIDO.					basement membrane	calcium ion binding|collagen binding	p.R146C(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CGCGCAGAGCGCGGGAAGCCA	0.706000													43	142					0	0	0.111260	0	0
TSIX	9383	broad.mit.edu	37	X	73041696	73041696	+	RNA	SNP	A	A	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chrX:73041696A>C	ENST00000604411.1	+	0	29657				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CACTGATATTATTCTACTATA	0.289000													4	0					0	0	0.021553	0	0
MUT	4594	broad.mit.edu	37	6	49412454	49412454	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:49412454C>A	ENST00000274813.3	-	9	1701	c.1574G>T	c.(1573-1575)aGg>aTg	p.R525M		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	525					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	p.R525M(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCTTGATCCCTGCTGGATTT	0.443000													27	73					7.92952e-12	1.0015e-11	0.091800	1	0
UBE2D1	7321	broad.mit.edu	37	10	60124575	60124575	+	Silent	SNP	T	T	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr10:60124575T>C	ENST00000373910.4	+	5	470	c.243T>C	c.(241-243)aaT>aaC	p.N81N		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	81					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity	p.N81N(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						TAAACAGTAATGGAAGTATTT	0.318000													23	19					0	0	0.037714	0	0
IFNG	3458	broad.mit.edu	37	12	68549249	68549249	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:68549249G>T	ENST00000229135.3	-	4	516	c.385C>A	c.(385-387)Caa>Aaa	p.Q129K	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	129					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding	p.Q129K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	GCTTTGCGTTGGACATTCAAG	0.428000													23	61					0.000375601	0.000406281	0.076483	1	0
POTEE	445582	broad.mit.edu	37	2	132021859	132021859	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:132021859A>T	ENST00000356920.5	+	15	2925	c.2831A>T	c.(2830-2832)gAt>gTt	p.D944V	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	944	Actin-like.						ATP binding	p.D944V(1)									GAGCTGCCCGATGGCCAGGTC	0.602000													26	169					0	0	0.080422	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90572786	90572786	+	RNA	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:90572786C>T	ENST00000551025.1	+	0	2795							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	p.A453V(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GAAGTTGATGCCATGCATCAG	0.353000													4	145					0	0	0.009096	0	0
KIF9	64147	broad.mit.edu	37	3	47305841	47305841	+	Splice_Site	SNP	C	C	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:47305841C>G	ENST00000335044.2	-	9	1274		c.e9-1		KIF9_ENST00000487440.1_Splice_Site|KIF9_ENST00000352910.4_Splice_Site|KIF9_ENST00000444589.2_Splice_Site|KIF9_ENST00000452770.2_Splice_Site|KIF9_ENST00000265529.3_Splice_Site	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9						blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAGTTTCCCCCTGCGGAAAGC	0.428000													34	102					0	0	0.069456	0	0
DCHS2	54798	broad.mit.edu	37	4	155161691	155161691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr4:155161691G>A	ENST00000357232.3	-	23	5991	c.5992C>T	c.(5992-5994)Cag>Tag	p.Q1998*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1998	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q1998*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCCTTTACCTGATAGAAATCT	0.403000													9	24					0	0	0.047766	0	0
RPL21	6144	broad.mit.edu	37	13	27830439	27830439	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr13:27830439G>T	ENST00000311549.6	+	5	650	c.361G>T	c.(361-363)Gag>Tag	p.E121*	RPL21_ENST00000272274.4_Nonsense_Mutation_p.E121*|RPL21_ENST00000319826.4_Nonsense_Mutation_p.E121*|RPL21_ENST00000326092.4_Nonsense_Mutation_p.E121*	NM_000982.3	NP_000973.2	P46778	RL21_HUMAN	ribosomal protein L21	121					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	p.E121*(1)		large_intestine(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)		AGAAGCCAAAGAGAAAGGTAC	0.388000													14	18					1.56452e-12	2.02277e-12	0.043863	1	0
DHX57	90957	broad.mit.edu	37	2	39050219	39050219	+	Silent	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:39050219G>T	ENST00000295373.6	-	17	3333	c.3207C>A	c.(3205-3207)ggC>ggA	p.G1069G		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1069							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	p.G1069G(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ACATTAGTTTGCCAATTCTCA	0.433000													22	108					5.35356e-11	6.57164e-11	0.076483	1	0
TMEM132D	121256	broad.mit.edu	37	12	130184930	130184930	+	Silent	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:130184930G>T	ENST00000422113.2	-	2	719	c.393C>A	c.(391-393)gcC>gcA	p.A131A		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	131						integral to membrane		p.A131A(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCAGGATGTGGGCTTTTAGTT	0.532000													29	64					2.90539e-05	3.23068e-05	0.037714	1	0
DAB1	1600	broad.mit.edu	37	1	57489264	57489264	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:57489264G>C	ENST00000371236.2	-	11	1098	c.835C>G	c.(835-837)Ctt>Gtt	p.L279V	DAB1_ENST00000371231.1_Missense_Mutation_p.L312V|DAB1_ENST00000414851.2_Missense_Mutation_p.L261V|DAB1_ENST00000439789.2_Missense_Mutation_p.L193V|DAB1_ENST00000371234.4_Missense_Mutation_p.L279V|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.L277V			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	312					cell differentiation|nervous system development			p.L279V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTCGCTGGAAGGGTCTGAGAT	0.532000													8	14					0	0	0.093190	0	0
XIST	7503	broad.mit.edu	37	X	73066515	73066515	+	RNA	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chrX:73066515G>T	ENST00000429829.1	-	0	6073					NR_001564.2																						GTGGGGATGAGGGGAGCACTT	0.488000													29	9					5.45727e-16	7.38336e-16	0.037714	1	0
FLG	2312	broad.mit.edu	37	1	152282747	152282747	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:152282747T>G	ENST00000368799.1	-	3	4650	c.4615A>C	c.(4615-4617)Agt>Cgt	p.S1539R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1539	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S1539R(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTTGCACTTCTGGGTCCT	0.572000									Ichthyosis				8	686					0	0	0.047766	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063502	48063502	+	Silent	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr15:48063502G>A	ENST00000316364.5	+	19	3181	c.2742G>A	c.(2740-2742)tcG>tcA	p.S914S	SEMA6D_ENST00000389428.3_Silent_p.S839S|SEMA6D_ENST00000389432.2_Silent_p.S871S|SEMA6D_ENST00000389433.2_Silent_p.S895S|SEMA6D_ENST00000354744.4_Silent_p.S858S|SEMA6D_ENST00000558014.1_Silent_p.S852S|SEMA6D_ENST00000537942.1_Silent_p.S852S|SEMA6D_ENST00000358066.4_Silent_p.S852S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000536845.2_Silent_p.S914S|SEMA6D_ENST00000558816.1_3'UTR	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	914					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.S852S(2)|p.S914S(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCATGGGATCGATGTCTGAGG	0.517000													39	174					0	0	0.074837	0	0
KIF1A	547	broad.mit.edu	37	2	241700155	241700155	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:241700155G>T	ENST00000498729.2	-	25	2617	c.2371C>A	c.(2371-2373)Cgc>Agc	p.R791S	KIF1A_ENST00000320389.7_Missense_Mutation_p.R782S	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	782					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.R782S(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACAATGGTGCGGGGGAAGGGC	0.657000													12	8					1.61879e-10	1.95959e-10	0.093190	1	0
NLRP6	171389	broad.mit.edu	37	11	280839	280839	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:280839G>C	ENST00000534750.1	+	4	1310	c.1105G>C	c.(1105-1107)Gag>Cag	p.E369Q	NLRP6_ENST00000312165.5_Missense_Mutation_p.E369Q	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	369	NACHT.					cytoplasm	ATP binding	p.E369Q(1)		breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGGCCGAGCGCGCCTA	0.622000													34	129					0	0	0.048971	0	0
SLC39A12	221074	broad.mit.edu	37	10	18254567	18254567	+	Silent	SNP	T	T	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr10:18254567T>C	ENST00000377369.2	+	4	972	c.699T>C	c.(697-699)ttT>ttC	p.F233F	SLC39A12_ENST00000539911.1_Silent_p.F99F|SLC39A12_ENST00000377374.4_Silent_p.F233F|SLC39A12_ENST00000377371.3_Silent_p.F233F	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	233					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.F233F(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CAGACTACTTTACAGAATATA	0.428000													34	102					0	0	0.054565	0	0
THOP1	7064	broad.mit.edu	37	19	2796159	2796159	+	Silent	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:2796159G>T	ENST00000307741.6	+	4	662	c.459G>T	c.(457-459)ggG>ggT	p.G153G	THOP1_ENST00000586677.1_Silent_p.G32G	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	153					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	p.G153G(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGAAATGGGCTTCACCTCC	0.592000													40	17					1.57019e-19	2.2351e-19	0.098360	1	0
FLI1	2313	broad.mit.edu	37	11	128680825	128680825	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:128680825C>G	ENST00000344954.6	+	9	1590	c.1202C>G	c.(1201-1203)cCc>cGc	p.P401R	FLI1_ENST00000281428.8_Missense_Mutation_p.P368R|FLI1_ENST00000525560.1_Missense_Mutation_p.P241R|FLI1_ENST00000534087.1_Missense_Mutation_p.P401R|FLI1_ENST00000429175.2_Missense_Mutation_p.P434R			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	434					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P434R(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TACCCCAACCCCAACGTCCCC	0.577000			T	EWSR1	Ewing sarcoma								45	80					0	0	0.048971	0	0
CASP2	835	broad.mit.edu	37	7	142988654	142988654	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:142988654G>T	ENST00000310447.5	+	2	337	c.96G>T	c.(94-96)atG>atT	p.M32I	CASP2_ENST00000493642.1_3'UTR|CASP2_ENST00000392925.2_Missense_Mutation_p.M32I	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	32	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding	p.M32I(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					TGTGTGGCATGCATCCTCATC	0.443000													76	139					4.20717e-43	7.18177e-43	0.048971	1	0
RGS3	5998	broad.mit.edu	37	9	116267776	116267776	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr9:116267776C>G	ENST00000374140.2	+	12	1161	c.952C>G	c.(952-954)Cca>Gca	p.P318A	RGS3_ENST00000374136.1_5'UTR|RGS3_ENST00000343817.5_Missense_Mutation_p.P37A|RGS3_ENST00000317613.6_Missense_Mutation_p.P206A|RGS3_ENST00000394646.3_Missense_Mutation_p.P37A|RGS3_ENST00000350696.5_Missense_Mutation_p.P318A	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	318	PDZ.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	p.P206A(1)|p.P318A(1)|p.P214A(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGCGACTCTCCAGTTCGAGT	0.572000													13	48					0	0	0.024245	0	0
CDH2	1000	broad.mit.edu	37	18	25572694	25572694	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr18:25572694A>C	ENST00000269141.3	-	9	1692	c.1269T>G	c.(1267-1269)agT>agG	p.S423R	CDH2_ENST00000399380.3_Missense_Mutation_p.S392R	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	423	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.S423R(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATCTCCGCCACTGATTCTGT	0.517000													12	57					0	0	0.093190	0	0
LAT	27040	broad.mit.edu	37	16	29000895	29000895	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr16:29000895G>T	ENST00000395456.2	+	9	863	c.541G>T	c.(541-543)Gca>Tca	p.A181S	LAT_ENST00000354453.4_Missense_Mutation_p.A200S|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000566177.1_Missense_Mutation_p.A209S|LAT_ENST00000564277.1_Missense_Mutation_p.A180S|RP11-264B17.5_ENST00000561471.1_RNA|LAT_ENST00000454369.2_Missense_Mutation_p.A180S|LAT_ENST00000395461.3_Missense_Mutation_p.A217S|LAT_ENST00000360872.5_Missense_Mutation_p.A210S	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells	210					calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity	p.A210S(1)		large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CGGGGAGAGCGCAGAAGCGTC	0.632000													71	80					1.14856e-27	1.79258e-27	0.048971	1	0
DGKI	9162	broad.mit.edu	37	7	137269996	137269996	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:137269996G>T	ENST00000453654.1	-	14	1161	c.622C>A	c.(622-624)Ccc>Acc	p.P208T	DGKI_ENST00000288490.5_Missense_Mutation_p.P508T|DGKI_ENST00000446122.1_Missense_Mutation_p.P508T|DGKI_ENST00000424189.2_Missense_Mutation_p.P508T			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	508					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.P508T(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GGCAAGTCGGGGTTTCTTTCC	0.483000													49	79					1.38658e-30	2.21954e-30	0.048971	1	0
GALNT15	117248	broad.mit.edu	37	3	16254188	16254188	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:16254188G>A	ENST00000339732.5	+	6	1813	c.1310G>A	c.(1309-1311)aGg>aAg	p.R437K	GALNT15_ENST00000437509.1_Missense_Mutation_p.R437K	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15									p.R437K(1)									CTGAGGAACAGGGTTCGCATT	0.542000													72	71					0	0	0.048971	0	0
NRXN1	9378	broad.mit.edu	37	2	50724853	50724853	+	Splice_Site	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:50724853C>A	ENST00000404971.1	-	15	3957		c.e15-1		NRXN1_ENST00000402717.3_Splice_Site|NRXN1_ENST00000401669.2_Splice_Site|NRXN1_ENST00000331040.5_Splice_Site|NRXN1_ENST00000406316.2_Splice_Site|NRXN1_ENST00000406859.3_Splice_Site|NRXN1_ENST00000405472.3_Splice_Site	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.?(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCATTTGACCTAAAAGAGAA	0.373000													4	44					0.00116845	0.00123935	0.021553	1	0
COL5A3	50509	broad.mit.edu	37	19	10102485	10102485	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:10102485C>A	ENST00000264828.3	-	23	2011	c.1926G>T	c.(1924-1926)caG>caT	p.Q642H		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	642	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.Q642H(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGTTTCCCTGCTGTCCCGGAG	0.552000													141	44					1.99122e-69	3.53724e-69	0.048971	1	0
GALNT14	79623	broad.mit.edu	37	2	31360856	31360856	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:31360856C>A	ENST00000349752.5	-	1	736	c.97G>T	c.(97-99)Gtg>Ttg	p.V33L	GALNT14_ENST00000420311.2_5'UTR|GALNT14_ENST00000356174.3_Missense_Mutation_p.V33L|GALNT14_ENST00000324589.5_Missense_Mutation_p.V33L	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	33						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V33L(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)					CCCGTCGGCACCTCCAACTTC	0.677000													14	66					6.72482e-11	8.23179e-11	0.024245	1	0
FAM135B	51059	broad.mit.edu	37	8	139263164	139263164	+	Silent	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr8:139263164G>T	ENST00000395297.1	-	6	632	c.462C>A	c.(460-462)gtC>gtA	p.V154V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	154								p.V154V(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGTCGAACATGACCGGGACCT	0.592000										HNSCC(54;0.14)			41	290					1.07121e-22	1.58684e-22	0.092188	1	0
SRCAP	10847	broad.mit.edu	37	16	30723216	30723216	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr16:30723216G>T	ENST00000262518.4	+	12	1938	c.1553G>T	c.(1552-1554)aGt>aTt	p.S518I	SRCAP_ENST00000344771.4_Missense_Mutation_p.S518I|SRCAP_ENST00000395059.2_Missense_Mutation_p.S518I	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	518	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.S518I(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GAAGAAACAAGTGGAAGTTCA	0.483000													94	63					1.80868e-48	3.13648e-48	0.048971	1	0
LRRC14B	389257	broad.mit.edu	37	5	194952	194952	+	Silent	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr5:194952G>A	ENST00000328278.3	+	2	1057	c.1029G>A	c.(1027-1029)ctG>ctA	p.L343L		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	343								p.L355L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						GACACAACCTGGTCAGCCTGT	0.622000													3	8					0	0	0.009096	0	0
FAM131B	9715	broad.mit.edu	37	7	143056061	143056061	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:143056061G>C	ENST00000409408.1	-	4	1949	c.241C>G	c.(241-243)Cgg>Ggg	p.R81G	FAM131B_ENST00000443739.2_Missense_Mutation_p.R109G|FAM131B_ENST00000409222.3_Missense_Mutation_p.R81G|FAM131B_ENST00000409578.1_Missense_Mutation_p.R97G|FAM131B_ENST00000409346.1_Missense_Mutation_p.R81G			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	81								p.R109G(1)|p.R81G(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TGGGCCACCCGGCCTTGCCCC	0.577000													18	29					0	0	0.099896	0	0
DNAH11	8701	broad.mit.edu	37	7	21788230	21788230	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:21788230A>T	ENST00000328843.6	+	53	8595	c.8564A>T	c.(8563-8565)cAg>cTg	p.Q2855L	DNAH11_ENST00000409508.3_Missense_Mutation_p.Q2848L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2855	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Q2855L(1)		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						CGAACCCCTCAGGGCTGTGCT	0.542000									Kartagener syndrome				38	68					0	0	0.086207	0	0
AP3B2	8120	broad.mit.edu	37	15	83350261	83350261	+	Silent	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr15:83350261G>T	ENST00000261722.3	-	5	639	c.432C>A	c.(430-432)ccC>ccA	p.P144P	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.P144P|AP3B2_ENST00000535348.1_Silent_p.P112P	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	144					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.P144P(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCATCATGATGGGCACTATGA	0.562000													26	145					2.12542e-12	2.72377e-12	0.030593	1	0
SETBP1	26040	broad.mit.edu	37	18	42618463	42618463	+	Silent	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr18:42618463C>A	ENST00000282030.5	+	5	4310	c.4014C>A	c.(4012-4014)ccC>ccA	p.P1338P		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1338						nucleus	DNA binding	p.P1284P(1)|p.P1338P(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGCCAAGTCCCCACTTAAAAG	0.458000									Schinzel-Giedion syndrome				35	59					1.07637e-12	1.4041e-12	0.074837	1	0
SLC2A3	6515	broad.mit.edu	37	12	8074110	8074110	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:8074110C>A	ENST00000075120.7	-	10	1630	c.1390G>T	c.(1390-1392)Gcc>Tcc	p.A464S		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	464					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	p.A464S(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CCTTCAAAGGCCCGTGTGATA	0.502000													74	203					3.20846e-33	5.23171e-33	0.048971	1	0
AOC3	8639	broad.mit.edu	37	17	41004468	41004468	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr17:41004468G>T	ENST00000308423.2	+	1	1268	c.1108G>T	c.(1108-1110)Gcc>Tcc	p.A370S		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	370					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.A370S(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGAGGCCTTGGCCATCTATGG	0.542000													38	120					8.20599e-20	1.1719e-19	0.042209	1	0
USP6	9098	broad.mit.edu	37	17	5040419	5040419	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr17:5040419A>C	ENST00000574788.1	+	19	2993	c.763A>C	c.(763-765)Aag>Cag	p.K255Q	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.K255Q|USP6_ENST00000332776.4_Missense_Mutation_p.K255Q			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	255	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.K255Q(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCATCAGGACAAGGAAGGTCT	0.592000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								18	60					0	0	0.055883	0	0
FAM83F	113828	broad.mit.edu	37	22	40417816	40417816	+	Silent	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr22:40417816C>A	ENST00000333407.5	+	4	1396	c.1302C>A	c.(1300-1302)ccC>ccA	p.P434P	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	434								p.P434P(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						AGGCCGCCCCCGCCAGGCGCT	0.667000													15	26					6.44725e-10	7.76157e-10	0.069288	1	0
ZNF592	9640	broad.mit.edu	37	15	85342390	85342390	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr15:85342390G>T	ENST00000299927.3	+	6	3108	c.3086G>T	c.(3085-3087)cGc>cTc	p.R1029L	ZNF592_ENST00000560079.2_Missense_Mutation_p.R1029L			Q92610	ZN592_HUMAN	zinc finger protein 592	1029					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1029L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AACAGCCTGCGCAAACACATC	0.527000													78	165					1.85467e-57	3.25498e-57	0.048971	1	0
OR4C15	81309	broad.mit.edu	37	11	55321872	55321872	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:55321872G>C	ENST00000314644.2	+	1	90	c.90G>C	c.(88-90)aaG>aaC	p.K30N		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K30N(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTGATCTGAAGCAAATTTTCC	0.348000										HNSCC(20;0.049)			65	113					0	0	0.048971	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55377868	55377868	+	Silent	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:55377868G>T	ENST00000326321.3	+	8	1182	c.1149G>T	c.(1147-1149)gtG>gtT	p.V383V	KIR3DL1_ENST00000402254.2_Silent_p.V383V|KIR3DL2_ENST00000270442.5_Silent_p.V366V	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	383					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.V383V(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		ACAGAACAGTGAATAGGCAGG	0.537000													30	63					6.00712e-18	8.36023e-18	0.050027	1	0
ARAP1	116985	broad.mit.edu	37	11	72410139	72410139	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:72410139A>T	ENST00000359373.5	-	18	3303	c.2452T>A	c.(2452-2454)Ttt>Att	p.F818I	ARAP1_ENST00000393609.3_Missense_Mutation_p.F818I|ARAP1_ENST00000393605.3_Missense_Mutation_p.F578I|ARAP1_ENST00000455638.2_Missense_Mutation_p.F818I|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Missense_Mutation_p.F573I|ARAP1_ENST00000426523.1_Missense_Mutation_p.F573I|ARAP1_ENST00000429686.1_Missense_Mutation_p.F512I			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	818	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	p.F578I(1)|p.F818I(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TACACCTCAAAGGTGTGCTCA	0.602000													38	236					0	0	0.092188	0	0
CYP2B6	1555	broad.mit.edu	37	19	41510205	41510205	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:41510205T>A	ENST00000324071.4	+	3	345	c.338T>A	c.(337-339)gTg>gAg	p.V113E	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Missense_Mutation_p.V73E|CYP2B6_ENST00000593831.1_Missense_Mutation_p.V37E	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	113					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.V113E(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ACCCCAGGTGTGATCTTTGCC	0.552000													7	19					0	0	0.038147	0	0
PXDN	7837	broad.mit.edu	37	2	1652348	1652348	+	Silent	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:1652348C>A	ENST00000252804.4	-	17	3254	c.3204G>T	c.(3202-3204)gcG>gcT	p.A1068A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1068					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.A1068A(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACCTGAAGGCCGCGGTGGCGA	0.597000													7	79					0.000274275	0.000297415	0.047766	1	0
SLC9B1	150159	broad.mit.edu	37	4	103870474	103870474	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr4:103870474C>A	ENST00000296422.7	-	4	463	c.322G>T	c.(322-324)Ggg>Tgg	p.G108W	SLC9B1_ENST00000394789.3_Missense_Mutation_p.G108W	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	108						integral to membrane	solute:hydrogen antiporter activity	p.G108W(1)									ATTTTTCCCCCAATAATGGCA	0.353000													6	46					0.00198382	0.00209403	0.029380	1	0
TPO	7173	broad.mit.edu	37	2	1497723	1497723	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:1497723G>C	ENST00000345913.4	+	11	2009	c.1918G>C	c.(1918-1920)Gct>Cct	p.A640P	TPO_ENST00000382198.1_Missense_Mutation_p.A467P|TPO_ENST00000349624.3_Missense_Mutation_p.A467P|TPO_ENST00000382201.3_Missense_Mutation_p.A583P|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Missense_Mutation_p.A640P|TPO_ENST00000329066.4_Missense_Mutation_p.A640P|TPO_ENST00000337415.3_Missense_Mutation_p.A640P	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	640					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.A640P(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGAGGCTTAGCTGAAAACTT	0.582000													14	114					0	0	0.024245	0	0
CYP4B1	1580	broad.mit.edu	37	1	47282730	47282730	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:47282730G>T	ENST00000271153.4	+	9	1117	c.1081G>T	c.(1081-1083)Ggc>Tgc	p.G361C	CYP4B1_ENST00000452782.2_Missense_Mutation_p.G199C|CYP4B1_ENST00000371919.4_Missense_Mutation_p.G347C|CYP4B1_ENST00000371923.4_Missense_Mutation_p.G362C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	361					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.G361C(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GGATGATCTGGGCAAAATGAC	0.542000													33	198					1.26612e-14	1.68174e-14	0.059317	1	0
SLC7A4	6545	broad.mit.edu	37	22	21384144	21384144	+	Silent	SNP	G	G	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr22:21384144G>C	ENST00000382932.2	-	3	1546	c.1479C>G	c.(1477-1479)ggC>ggG	p.G493G	SLC7A4_ENST00000403586.1_Silent_p.G493G	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	493					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	p.G493G(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CAAGCACGCAGCCTATGGTGA	0.592000													26	45					0	0	0.091800	0	0
CTTN	2017	broad.mit.edu	37	11	70263174	70263174	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:70263174G>T	ENST00000301843.8	+	8	719	c.513G>T	c.(511-513)aaG>aaT	p.K171N	CTTN_ENST00000376561.3_Missense_Mutation_p.K171N|CTTN_ENST00000346329.3_Missense_Mutation_p.K171N	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	171						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	p.K171N(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GAGTAGACAAGAGCGCGGTGG	0.602000													51	119					7.50695e-29	1.18005e-28	0.048971	1	0
SATB2	23314	broad.mit.edu	37	2	200213530	200213530	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:200213530G>T	ENST00000443023.1	-	6	2355	c.890C>A	c.(889-891)tCt>tAt	p.S297Y	SATB2_ENST00000260926.5_Missense_Mutation_p.S356Y|SATB2_ENST00000428695.1_Missense_Mutation_p.S238Y|SATB2_ENST00000417098.1_Missense_Mutation_p.S356Y|SATB2_ENST00000457245.1_Missense_Mutation_p.S356Y			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	356						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.S356Y(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCCACGGAAGAGTTGGTTGG	0.547000													28	105					3.99451e-17	5.50662e-17	0.041601	1	0
KDM5A	5927	broad.mit.edu	37	12	498227	498227	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:498227C>G	ENST00000399788.2	-	1	393	c.31G>C	c.(31-33)Gcg>Ccg	p.A11P	KDM5A_ENST00000382815.4_Missense_Mutation_p.A11P	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	11					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A11P(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ACGAACTCCGCCGCGTAGCCC	0.687000			T	NUP98	AML								15	16					0	0	0.033300	0	0
PLA1A	51365	broad.mit.edu	37	3	119344001	119344001	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:119344001A>T	ENST00000273371.4	+	9	1115	c.1043A>T	c.(1042-1044)aAg>aTg	p.K348M	PLA1A_ENST00000494440.1_Missense_Mutation_p.K332M|PLA1A_ENST00000488919.1_Missense_Mutation_p.K175M|PLA1A_ENST00000495992.1_Missense_Mutation_p.K332M	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	348					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	p.K348M(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTTCACTTGAAGGAACTGAGA	0.493000													16	84					0	0	0.083992	0	0
USF2	7392	broad.mit.edu	37	19	35761990	35761990	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:35761990A>G	ENST00000222305.3	+	7	710	c.673A>G	c.(673-675)Att>Gtt	p.I225V	USF2_ENST00000600341.1_3'UTR|USF2_ENST00000595068.1_Missense_Mutation_p.I225V|USF2_ENST00000594064.1_Missense_Mutation_p.I223V|USF2_ENST00000343550.5_Missense_Mutation_p.I158V|USF2_ENST00000379134.3_Missense_Mutation_p.I94V	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	225					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.I225V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGTAGAAAAATTGATGGAAC	0.483000													35	132					0	0	0.074837	0	0
EPHA2	1969	broad.mit.edu	37	1	16464843	16464843	+	Silent	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:16464843C>T	ENST00000358432.5	-	4	1060	c.906G>A	c.(904-906)gaG>gaA	p.E302E		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	302	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	p.E302E(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGGTGGCACCCTCAGGGGATG	0.612000													10	49					0	0	0.069234	0	0
ERVW-1	30816	broad.mit.edu	37	7	92098789	92098789	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:92098789G>T	ENST00000493463.2	-	1	1830	c.907C>A	c.(907-909)Caa>Aaa	p.Q303K	AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_Intron|ERVW-1_ENST00000603053.1_Missense_Mutation_p.Q303K	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		303					syncytium formation	integral to membrane|plasma membrane|virion		p.Q303K(1)		endometrium(1)|large_intestine(1)|lung(15)	17						tataaatcttgttcagtgtag	0.433000													61	70					5.82218e-30	9.28574e-30	0.048971	1	0
DPP10	57628	broad.mit.edu	37	2	116447482	116447482	+	Silent	SNP	C	C	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:116447482C>G	ENST00000410059.1	+	7	1041	c.561C>G	c.(559-561)gtC>gtG	p.V187V	DPP10_ENST00000310323.8_Silent_p.V180V|DPP10_ENST00000393147.2_Silent_p.V191V|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Silent_p.V137V	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	187					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.V180V(1)|p.V187V(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CCTGGGGTGTCCAAGGGCAGC	0.443000													3	81					0	0	0.009096	0	0
OR5D14	219436	broad.mit.edu	37	11	55563657	55563657	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:55563657A>T	ENST00000335605.1	+	1	626	c.626A>T	c.(625-627)gAg>gTg	p.E209V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E209V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ACCTTCAATGAGATGTGTACA	0.448000													78	149					0	0	0.048971	0	0
FLNC	2318	broad.mit.edu	37	7	128478674	128478674	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:128478674G>T	ENST00000325888.8	+	8	1489	c.1228G>T	c.(1228-1230)Gtt>Ttt	p.V410F	FLNC_ENST00000346177.6_Missense_Mutation_p.V410F	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	410					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.V410F(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACTGGCGATGTTGCTGTGGT	0.657000													53	135					3.54697e-40	5.96164e-40	0.048971	1	0
CCDC54	84692	broad.mit.edu	37	3	107097226	107097226	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:107097226T>G	ENST00000261058.1	+	1	1039	c.792T>G	c.(790-792)agT>agG	p.S264R		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	264								p.S264R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						TTTTCCTCAGTGCTACCAAGT	0.413000													64	91					0	0	0.048971	0	0
ZNF14	7561	broad.mit.edu	37	19	19823805	19823805	+	Silent	SNP	T	T	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:19823805T>C	ENST00000344099.3	-	4	423	c.285A>G	c.(283-285)gaA>gaG	p.E95E		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E95E(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				CAGTAAAAGTTTCCTTGTTGA	0.403000													4	95					0	0	0.014758	0	0
DCHS2	54798	broad.mit.edu	37	4	155226293	155226293	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr4:155226293G>T	ENST00000357232.3	-	16	3985	c.3986C>A	c.(3985-3987)aCc>aAc	p.T1329N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1329	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T1329K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAGTATGGTGGTTGTCACTAC	0.333000													4	13					3.59834e-05	3.97089e-05	0.021553	1	0
SLC7A10	56301	broad.mit.edu	37	19	33703293	33703293	+	Silent	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:33703293C>A	ENST00000253188.3	-	5	839	c.693G>T	c.(691-693)gtG>gtT	p.V231V		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	231					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	p.V231V(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CCAGGTGTCCCACGGAGGGCG	0.617000													15	50					3.52763e-06	3.9834e-06	0.033300	1	0
NRXN1	9378	broad.mit.edu	37	2	50765556	50765556	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:50765556C>A	ENST00000404971.1	-	11	3437	c.2098G>T	c.(2098-2100)Gct>Tct	p.A700S	NRXN1_ENST00000402717.3_Missense_Mutation_p.A652S|NRXN1_ENST00000401669.2_Missense_Mutation_p.A660S|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.A660S|NRXN1_ENST00000406859.3_Missense_Mutation_p.A660S|NRXN1_ENST00000405472.3_Missense_Mutation_p.A652S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	660	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.A701S(1)|p.A700S(1)|p.A660S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGAACTTCAGCCATTTGCCGG	0.507000													87	487					7.63117e-38	1.26319e-37	0.048971	1	0
OR6S1	341799	broad.mit.edu	37	14	21109399	21109399	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr14:21109399C>A	ENST00000320704.3	-	1	451	c.452G>T	c.(451-453)tGg>tTg	p.W151L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W151L(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TCCCCCCACCCAGCAGGCCAA	0.597000													16	34					5.03518e-11	6.19824e-11	0.043863	1	0
WTAP	9589	broad.mit.edu	37	6	160176630	160176630	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:160176630G>T	ENST00000358372.4	+	8	2935	c.1178G>T	c.(1177-1179)gGt>gTt	p.G393V	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	393					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		p.G393V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		AATGTACAGGGTTCAGTTTTG	0.388000													10	33					3.86212e-05	4.25125e-05	0.069234	1	0
GMPS	8833	broad.mit.edu	37	3	155649598	155649598	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:155649598A>T	ENST00000496455.1	+	13	1940	c.1605A>T	c.(1603-1605)aaA>aaT	p.K535N	GMPS_ENST00000295920.7_Missense_Mutation_p.K436N	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	535					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	p.K535N(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCTCCAGTAAAGATGAACCTG	0.403000			T	MLL	AML								84	148					0	0	0.048971	0	0
SH3BGRL2	83699	broad.mit.edu	37	6	80383467	80383467	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:80383467A>C	ENST00000369838.4	+	2	361	c.182A>C	c.(181-183)cAg>cCg	p.Q61P		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamic acid-rich protein like 2	61						nucleus	SH3 domain binding	p.Q61P(1)		large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		AAACCCACTCAGGGCAACCCC	0.453000													55	112					0	0	0.048971	0	0
DVL2	1856	broad.mit.edu	37	17	7134075	7134075	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr17:7134075G>A	ENST00000005340.5	-	2	518	c.236C>T	c.(235-237)cCc>cTc	p.P79L	DVL2_ENST00000575458.1_Missense_Mutation_p.P79L	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	79	DIX.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	p.P79L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GTTGAAGCAGGGGAGGCGGGC	0.587000													38	111					0	0	0.048971	0	0
FAM115A	9747	broad.mit.edu	37	7	143573331	143573331	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:143573331A>G	ENST00000479870.1	-	2	579	c.371T>C	c.(370-372)gTt>gCt	p.V124A	FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Missense_Mutation_p.V124A	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	124								p.V124A(1)		NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					AATACAGTAAACCCCCAGGGA	0.512000													68	132					0	0	0.048971	0	0
TRPV5	56302	broad.mit.edu	37	7	142627208	142627208	+	Silent	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:142627208C>A	ENST00000265310.1	-	3	642	c.294G>T	c.(292-294)ctG>ctT	p.L98L	TRPV5_ENST00000442623.1_Silent_p.L98L	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	98					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.L98L(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CAGCCTCCATCAGCACCAAGG	0.547000													48	71					6.26901e-30	9.96203e-30	0.048971	1	0
SLAIN1	122060	broad.mit.edu	37	13	78327435	78327435	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr13:78327435G>T	ENST00000466548.1	+	6	1316	c.1290G>T	c.(1288-1290)caG>caT	p.Q430H	SLAIN1_ENST00000358679.3_Missense_Mutation_p.Q167H|SLAIN1_ENST00000488699.1_Missense_Mutation_p.Q288H|SLAIN1_ENST00000314070.5_Missense_Mutation_p.Q53H|SLAIN1_ENST00000418532.1_Missense_Mutation_p.Q211H|SLAIN1_ENST00000351546.3_Missense_Mutation_p.Q167H|SLAIN1_ENST00000267219.8_Missense_Mutation_p.Q211H	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	430								p.Q211H(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		GAAATAGTCAGAGTTTTGACT	0.378000													14	35					0.006122	0.00641563	0.038395	1	0
PDZD2	23037	broad.mit.edu	37	5	32048790	32048790	+	Splice_Site	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr5:32048790G>A	ENST00000438447.1	+	8	2053	c.1665_splice	c.e8+1	p.Q555_splice	PDZD2_ENST00000282493.3_Splice_Site_p.Q555_splice			O15018	PDZD2_HUMAN	PDZ domain containing 2	555					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.Q555Q(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTGCCTCACAGGTCCGACCAG	0.577000													52	61					0	0	0.048971	0	0
MUT	4594	broad.mit.edu	37	6	49425722	49425722	+	Silent	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:49425722G>A	ENST00000274813.3	-	3	562	c.435C>T	c.(433-435)ggC>ggT	p.G145G		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	145			G -> S (in MMAM; mut0).		fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	p.G145G(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGAATCATAGCCACGATGTG	0.403000													20	47					0	0	0.099896	0	0
ZNF609	23060	broad.mit.edu	37	15	64966541	64966541	+	Silent	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr15:64966541C>T	ENST00000326648.3	+	4	1616	c.1488C>T	c.(1486-1488)gaC>gaT	p.D496D	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	496						nucleus	zinc ion binding	p.D496D(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTAATTGACTGTCCCCACC	0.532000													63	87					0	0	0.048971	0	0
SLC17A4	10050	broad.mit.edu	37	6	25776840	25776840	+	Silent	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:25776840C>T	ENST00000377905.4	+	9	1124	c.1005C>T	c.(1003-1005)gcC>gcT	p.A335A	SLC17A4_ENST00000397076.2_Silent_p.A105A|SLC17A4_ENST00000439485.2_Silent_p.A105A	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	335					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.A335A(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCCTGTCTGCCTTGCCGTTTG	0.507000													121	177					0	0	0.048971	0	0
TTLL3	26140	broad.mit.edu	37	3	9854722	9854722	+	Translation_Start_Site	SNP	A	A	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:9854722A>T	ENST00000397241.1	+	0	360				RP11-266J6.2_ENST00000602768.1_RNA|ARPC4-TTLL3_ENST00000397256.1_Silent_p.S142S|TTLL3_ENST00000547186.1_Silent_p.S48S|TTLL3_ENST00000426895.4_Silent_p.S191S			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3						axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	p.S48S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TCCATCGCTCAGGCCCCACCC	0.582000													16	74					0	0	0.033300	0	0
CRYBA4	1413	broad.mit.edu	37	22	27021578	27021578	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr22:27021578G>T	ENST00000354760.3	+	4	327	c.292G>T	c.(292-294)Gcc>Tcc	p.A98S	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	98	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	p.A98S(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						CCGGCCTGCGGCCTGTGCTGT	0.597000													39	206					2.22609e-26	3.42535e-26	0.048971	1	0
EFHC1	114327	broad.mit.edu	37	6	52344532	52344532	+	Silent	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:52344532G>T	ENST00000371068.5	+	9	1690	c.1587G>T	c.(1585-1587)gcG>gcT	p.A529A	EFHC1_ENST00000538167.1_Silent_p.A510A|EFHC1_ENST00000433625.2_Silent_p.A438A	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	529						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	p.A529A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					AAGCACTCGCGTCAATTCAGA	0.478000													13	83					2.61681e-11	3.24872e-11	0.020292	1	0
APCDD1	147495	broad.mit.edu	37	18	10468528	10468528	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr18:10468528A>C	ENST00000355285.4	+	2	475	c.121A>C	c.(121-123)Aaa>Caa	p.K41Q	APCDD1_ENST00000578882.1_Missense_Mutation_p.K41Q	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	41					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	p.K41Q(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GTCCTTAGAGAAAAGTGCCTG	0.488000													14	255					0	0	0.024245	0	0
ZNF660	285349	broad.mit.edu	37	3	44636480	44636480	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:44636480G>C	ENST00000322734.2	+	3	1128	c.795G>C	c.(793-795)caG>caC	p.Q265H	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q265H(1)		large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TTGATCATCAGAGAGTTCACA	0.398000													14	56					0	0	0.024245	0	0
GATA3	2625	broad.mit.edu	37	10	8115980	8115980	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr10:8115980G>T	ENST00000379328.3	+	6	1897	c.1329G>T	c.(1327-1329)atG>atT	p.M443I	GATA3_ENST00000346208.3_Missense_Mutation_p.M442I|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	442					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.M443I(2)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCACCGCCATGGGTTAGAGCC	0.607000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						13	139					2.32416e-17	3.2141e-17	0.069288	1	0
HOXC9	3225	broad.mit.edu	37	12	54394171	54394171	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:54394171G>A	ENST00000303450.4	+	1	269	c.199G>A	c.(199-201)Gcg>Acg	p.A67T	HOXC9_ENST00000508190.1_Missense_Mutation_p.A67T|HOXC9_ENST00000504557.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	67					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A67T(1)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CACGTCGTGGGCGCCCGTGCC	0.677000													13	56					0	0	0.028581	0	0
FAM131B	9715	broad.mit.edu	37	7	143053910	143053910	+	Silent	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:143053910G>A	ENST00000409408.1	-	6	2440	c.732C>T	c.(730-732)taC>taT	p.Y244Y	FAM131B_ENST00000443739.2_Silent_p.Y272Y|FAM131B_ENST00000409222.3_Silent_p.Y244Y|FAM131B_ENST00000409578.1_Silent_p.Y260Y|FAM131B_ENST00000409346.1_Silent_p.Y244Y			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	244								p.Y272Y(1)|p.Y244Y(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CCAGAGCAGAGTATCCTGAAG	0.592000													44	214					0	0	0.048971	0	0
SPTA1	6708	broad.mit.edu	37	1	158596753	158596753	+	Silent	SNP	T	T	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:158596753T>A	ENST00000368148.3	-	41	5889	c.5709A>T	c.(5707-5709)atA>atT	p.I1903I	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Silent_p.I1900I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1903					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	p.I1903I(1)		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)					TCAGAGCCTCTATCTTGGAAG	0.428000													25	99					0	0	0.099896	0	0
ALPP	250	broad.mit.edu	37	2	233244348	233244348	+	Silent	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:233244348G>A	ENST00000392027.2	+	4	704	c.435G>A	c.(433-435)acG>acA	p.T145T	AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	145						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.T145T(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		AGTGCAACACGACACGCGGCA	0.622000													8	34					0	0	0.047766	0	0
MTM1	4534	broad.mit.edu	37	X	149783137	149783137	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chrX:149783137G>T	ENST00000370396.2	+	5	361	c.307G>T	c.(307-309)Gga>Tga	p.G103*	MTM1_ENST00000542741.1_Nonsense_Mutation_p.G8*|MTM1_ENST00000543350.1_Intron|MTM1_ENST00000413012.2_Intron|MTM1_ENST00000306167.7_Intron	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	103					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	p.G103*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GACAAGTAGAGGAGAAAATTC	0.368000													10	6					1.61879e-10	1.95959e-10	0.093190	1	0
EPHB6	2051	broad.mit.edu	37	7	142568375	142568375	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:142568375A>T	ENST00000392957.2	+	19	3681	c.2894A>T	c.(2893-2895)tAc>tTc	p.Y965F	EPHB6_ENST00000411471.2_Missense_Mutation_p.Y688F|EPHB6_ENST00000442129.1_Missense_Mutation_p.Y965F|EPHB6_ENST00000476059.1_3'UTR	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	965	SAM.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.Y950F(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTGGAGTGCTACCAGGACAAC	0.587000													56	209					0	0	0.048971	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600880	41600880	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:41600880C>T	ENST00000330436.3	+	8	1178	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	393					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	p.P393L(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GAAGTGTTCCCTATGCTGGGC	0.572000													38	112					0	0	0.092188	0	0
PEPD	5184	broad.mit.edu	37	19	33991872	33991872	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:33991872G>A	ENST00000244137.6	-	4	398	c.365C>T	c.(364-366)gCc>gTc	p.A122V	PEPD_ENST00000436370.3_Intron|PEPD_ENST00000397032.4_Missense_Mutation_p.A122V	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	122					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	p.A122V(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					GTCGTCCACGGCATACTTCTC	0.557000													5	144					0	0	0.014758	0	0
FSD2	123722	broad.mit.edu	37	15	83451753	83451753	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr15:83451753T>G	ENST00000334574.8	-	4	941	c.760A>C	c.(760-762)Aac>Cac	p.N254H	FSD2_ENST00000541889.1_Missense_Mutation_p.N254H			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	254								p.N254H(1)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GACTCAAAGTTTTGTTCTTGT	0.358000													5	283					0	0	0.014758	0	0
MUC3A	4584	broad.mit.edu	37	7	100551709	100551709	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:100551709T>C	ENST00000319509.7	+	1	460	c.460T>C	c.(460-462)Ttt>Ctt	p.F154L						mucin 3A, cell surface associated									p.F154L(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TACTGTCACCTTTGGAAGTAC	0.493000													7	949					0	0	0.029380	0	0
CD36	948	broad.mit.edu	37	7	80276105	80276105	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:80276105G>T	ENST00000435819.1	+	6	733	c.49G>T	c.(49-51)Gct>Tct	p.A17S	CD36_ENST00000309881.7_Missense_Mutation_p.A17S|CD36_ENST00000432207.1_Missense_Mutation_p.A17S|CD36_ENST00000544133.1_Missense_Mutation_p.A17S|CD36_ENST00000538969.1_Missense_Mutation_p.A17S|CD36_ENST00000447544.2_Missense_Mutation_p.A17S|CD36_ENST00000534394.1_Intron|CD36_ENST00000433696.2_Missense_Mutation_p.A17S|CD36_ENST00000394788.3_Missense_Mutation_p.A17S|CD36_ENST00000441109.2_3'UTR			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	17					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	p.A17S(4)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGTCATTGGTGCTGTCCTGGC	0.458000													39	107					8.16277e-20	1.16955e-19	0.092188	1	0
RAB8B	51762	broad.mit.edu	37	15	63536975	63536975	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr15:63536975A>C	ENST00000321437.4	+	2	301	c.145A>C	c.(145-147)Acg>Ccg	p.T49P	RAB8B_ENST00000448330.2_Missense_Mutation_p.T49P	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	49					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.T49P(1)		kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						TAAAATTAGAACGATAGAACT	0.299000													4	49					0	0	0.029380	0	0
SPAG17	200162	broad.mit.edu	37	1	118609425	118609425	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:118609425C>T	ENST00000336338.5	-	18	2548	c.2483G>A	c.(2482-2484)aGa>aAa	p.R828K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	828						cilium|flagellar axoneme|microtubule		p.R828K(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CAAACGTTGTCTATTCATTGG	0.363000													23	65					0	0	0.091800	0	0
ZNF550	162972	broad.mit.edu	37	19	58058519	58058519	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:58058519G>A	ENST00000325134.5	-	3	1153	c.997C>T	c.(997-999)Cac>Tac	p.H333Y	ZNF550_ENST00000457177.1_Missense_Mutation_p.H365Y|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.H324Y|ZNF549_ENST00000594943.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H324Y(1)		endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCCCAGTGTGAATCCGCTGG	0.522000													15	39					0	0	0.033300	0	0
NANS	54187	broad.mit.edu	37	9	100839261	100839261	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr9:100839261C>T	ENST00000210444.5	+	3	480	c.410C>T	c.(409-411)aCt>aTt	p.T137I	NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	137					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity	p.T137I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				TCTGGAGACACTAATAATTTT	0.368000													12	52					0	0	0.020292	0	0
MESDC1	59274	broad.mit.edu	37	15	81295659	81295659	+	Silent	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr15:81295659G>T	ENST00000267984.2	+	1	2365	c.1047G>T	c.(1045-1047)tcG>tcT	p.S349S		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	349								p.S349S(1)		endometrium(1)|lung(2)	3						AGAGGTCTTCGCCCAGGACTT	0.557000													5	43					1.23904e-05	1.38836e-05	0.014758	1	0
SLC35D2	11046	broad.mit.edu	37	9	99114336	99114336	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr9:99114336C>T	ENST00000253270.7	-	5	465	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	SLC35D2_ENST00000375259.4_Missense_Mutation_p.E135K|SLC35D2_ENST00000482643.1_5'UTR|SLC35D2_ENST00000375257.1_Missense_Mutation_p.E135K	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	135						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity	p.E135K(1)		endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				ATGATGGTTTCCAGAAGTAAG	0.463000													14	23					0	0	0.024245	0	0
PSPC1	55269	broad.mit.edu	37	13	20346557	20346557	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr13:20346557C>T	ENST00000338910.4	-	2	658	c.499G>A	c.(499-501)Gtt>Att	p.V167I		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	167	RRM 2.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	p.V167I(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TCATTGGAAACAACTGGAGAA	0.483000													69	90					0	0	0.048971	0	0
RNF152	220441	broad.mit.edu	37	18	59483460	59483460	+	Silent	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr18:59483460G>A	ENST00000312828.3	-	2	1336	c.237C>T	c.(235-237)atC>atT	p.I79I		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	79					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	p.I79I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GTGGAATGGCGATGACAGCCA	0.637000													14	62					0	0	0.033300	0	0
DST	667	broad.mit.edu	37	6	56507224	56507224	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:56507224C>T	ENST00000370754.5	-	15	1756	c.1757G>A	c.(1756-1758)gGa>gAa	p.G586E	DST_ENST00000421834.2_Missense_Mutation_p.G408E|DST_ENST00000361203.3_Missense_Mutation_p.G408E|DST_ENST00000370769.4_Missense_Mutation_p.G408E|DST_ENST00000244364.6_Missense_Mutation_p.G82E|DST_ENST00000370765.6_Missense_Mutation_p.G82E|DST_ENST00000312431.6_Missense_Mutation_p.G408E|DST_ENST00000518935.1_Missense_Mutation_p.G82E|DST_ENST00000446842.2_Missense_Mutation_p.G82E|DST_ENST00000370788.2_Missense_Mutation_p.G408E			Q03001	DYST_HUMAN	dystonin	408					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.G82E(3)|p.G408E(1)|p.G586E(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAGAGCATTTCCAGCAAGAAT	0.383000													33	58					0	0	0.059317	0	0
ZNF236	7776	broad.mit.edu	37	18	74583760	74583760	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr18:74583760C>T	ENST00000253159.8	+	5	838	c.640C>T	c.(640-642)Cga>Tga	p.R214*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.R216*|ZNF236_ENST00000583095.1_Intron	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	214					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R214*(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCAGTTAACGCGACACATTAG	0.463000													50	81					0	0	0.048971	0	0
EPHA6	285220	broad.mit.edu	37	3	97167440	97167440	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:97167440C>A	ENST00000389672.5	+	7	1798	c.1760C>A	c.(1759-1761)aCa>aAa	p.T587K	EPHA6_ENST00000442602.2_5'UTR|EPHA6_ENST00000502694.1_5'UTR|EPHA6_ENST00000514100.1_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	492						integral to plasma membrane	ATP binding|ephrin receptor activity	p.T493K(2)|p.T587K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TACTCTTCCACAAGGTCCAAA	0.453000													31	48					1.07637e-12	1.4041e-12	0.074837	1	0
SLC8A1	6546	broad.mit.edu	37	2	40656143	40656143	+	Silent	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:40656143G>T	ENST00000406785.1	-	2	1467	c.1278C>A	c.(1276-1278)gcC>gcA	p.A426A	SLC8A1_ENST00000542024.1_Silent_p.A426A|SLC8A1_ENST00000542756.1_Silent_p.A426A|SLC8A1_ENST00000403092.1_Silent_p.A426A|SLC8A1_ENST00000402441.1_Silent_p.A426A|SLC8A1_ENST00000332839.4_Silent_p.A426A|SLC8A1_ENST00000405901.3_Silent_p.A426A|SLC8A1_ENST00000406391.2_Silent_p.A426A|SLC8A1_ENST00000405269.1_Silent_p.A426A|SLC8A1_ENST00000408028.2_Silent_p.A426A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	426	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.A426A(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TAATGGTAAGGGCCACAGTAC	0.438000													26	103					3.73988e-18	5.23823e-18	0.030593	1	0
WDR34	89891	broad.mit.edu	37	9	131396070	131396070	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr9:131396070G>A	ENST00000372715.2	-	9	1624	c.1564C>T	c.(1564-1566)Cgg>Tgg	p.R522W		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	522						cytoplasm		p.R522W(1)		central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						TCAGCTTCCCGGGGCCCTTGT	0.652000													6	242					0	0	0.021553	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													4	157					0	0	0.009096	0	0
LAMP5	24141	broad.mit.edu	37	20	9510440	9510440	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr20:9510440C>A	ENST00000246070.2	+	6	1308	c.816C>A	c.(814-816)gaC>gaA	p.D272E	LAMP5_ENST00000427562.2_Missense_Mutation_p.D228E	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	272						integral to membrane		p.D272E(1)									TCCCTCGGGACAGATCCCAGT	0.527000													30	24					3.73148e-12	4.74028e-12	0.034045	1	0
MAPK8IP3	23162	broad.mit.edu	37	16	1797083	1797083	+	Silent	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr16:1797083C>T	ENST00000250894.4	+	6	955	c.798C>T	c.(796-798)ccC>ccT	p.P266P	MAPK8IP3_ENST00000356010.5_Silent_p.P266P|MAPK8IP3_ENST00000568271.1_3'UTR	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	266					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	p.P267P(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCGCCACACCCAGCACCACAG	0.657000													23	53					0	0	0.099896	0	0
RGS12	6002	broad.mit.edu	37	4	3432320	3432320	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr4:3432320G>T	ENST00000336727.3	+	17	4656	c.3752G>T	c.(3751-3753)cGg>cTg	p.R1251L	RGS12_ENST00000382788.3_Missense_Mutation_p.R1251L|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000338806.4_Missense_Mutation_p.R603L|RGS12_ENST00000344733.5_Missense_Mutation_p.R1251L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1251						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	p.R1251L(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCAACGGCCGGGAGAGCGCC	0.667000													11	10					3.45872e-05	3.83619e-05	0.028581	1	0
NCKAP5	344148	broad.mit.edu	37	2	133721313	133721313	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:133721313C>A	ENST00000409261.1	-	8	932	c.559G>T	c.(559-561)Gag>Tag	p.E187*	NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.E187*|NCKAP5_ENST00000409213.1_Nonsense_Mutation_p.E187*|NCKAP5_ENST00000405974.3_Nonsense_Mutation_p.E187*	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	187							protein binding	p.E187*(1)|p.E26*(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCAATCTCTCTAATAGCAAT	0.373000													31	53					2.29764e-31	3.69143e-31	0.064281	1	0
CD2AP	23607	broad.mit.edu	37	6	47567080	47567080	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:47567080G>A	ENST00000359314.5	+	13	1774	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	440					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	p.E440K(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ATTTGAAACTGAGCCAGTATC	0.348000													4	37					0	0	0.014758	0	0
UBE2O	63893	broad.mit.edu	37	17	74394977	74394977	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr17:74394977G>A	ENST00000319380.7	-	10	1788	c.1724C>T	c.(1723-1725)cCt>cTt	p.P575L	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	575							ATP binding|ubiquitin-protein ligase activity	p.P575H(2)|p.P575L(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GTGGTGCACAGGGAAGAGGTC	0.612000													72	297					0	0	0.048971	0	0
DCHS2	54798	broad.mit.edu	37	4	155226292	155226292	+	Silent	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr4:155226292G>T	ENST00000357232.3	-	16	3986	c.3987C>A	c.(3985-3987)acC>acA	p.T1329T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1329	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T1329K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAGTATGGTGGTTGTCACTA	0.333000													4	13					3.59834e-05	3.97089e-05	0.021553	1	0
OR5T1	390155	broad.mit.edu	37	11	56043831	56043831	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:56043831G>T	ENST00000313033.2	+	1	803	c.717G>T	c.(715-717)aaG>aaT	p.K239N		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K239N(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CCATTCTGAAGATGCAGTCTG	0.418000													88	192					7.0627e-44	1.21512e-43	0.048971	1	0
C6orf15	29113	broad.mit.edu	37	6	31079232	31079232	+	Missense_Mutation	SNP	G	G	T	rs150278073	byFrequency	TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:31079232G>T	ENST00000259870.3	-	2	907	c.904C>A	c.(904-906)Cgc>Agc	p.R302S		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	302	Pro-rich.							p.R302S(1)		endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CCAGGAGGGCGGAGGACTCCA	0.532000													19	108					8.28177e-16	1.11702e-15	0.043863	1	0
C6orf136	221545	broad.mit.edu	37	6	30617664	30617664	+	Silent	SNP	C	C	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:30617664C>G	ENST00000293604.6	+	2	1138	c.945C>G	c.(943-945)tcC>tcG	p.S315S	C6orf136_ENST00000376471.4_Intron|C6orf136_ENST00000376473.5_Silent_p.S134S|C6orf136_ENST00000493705.1_3'UTR	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	134								p.S315S(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CCCACCCTTCCCCTGCCACCC	0.557000													77	124					0	0	0.048971	0	0
OR10S1	219873	broad.mit.edu	37	11	123847563	123847563	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:123847563C>A	ENST00000531945.1	-	1	925	c.836G>T	c.(835-837)aGt>aTt	p.S279I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S279I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCCTGCCTCACTGGAGCGAGG	0.587000													32	263					6.2361e-21	9.11431e-21	0.098360	1	0
PCDH18	54510	broad.mit.edu	37	4	138451033	138451033	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr4:138451033C>A	ENST00000344876.4	-	1	2596	c.2210G>T	c.(2209-2211)aGg>aTg	p.R737M	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.R737M|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R517M	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	737					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R737M(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTCGGCCACCCTGCAGTTATA	0.478000													33	53					1.99505e-19	2.83064e-19	0.050027	1	0
THNSL1	79896	broad.mit.edu	37	10	25313947	25313947	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr10:25313947C>T	ENST00000524413.1	+	3	2142	c.1795C>T	c.(1795-1797)Cat>Tat	p.H599Y	THNSL1_ENST00000376356.4_Missense_Mutation_p.H599Y			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	599					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	p.H599Y(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	AAGTCAGCATCATTTCCAGAT	0.388000													15	146					0	0	0.024245	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769102	31769102	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:31769102C>T	ENST00000240587.4	-	2	1924	c.1597G>A	c.(1597-1599)Gca>Aca	p.A533T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	533					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A350T(1)|p.A533T(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTGTTGATTGCGGATGTCACT	0.507000													5	297					0	0	0.014758	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976507	47976507	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:47976507C>G	ENST00000543600.1	-	2	758	c.719G>C	c.(718-720)tGc>tCc	p.C240S	PTCHD4_ENST00000339488.4_Missense_Mutation_p.C257S			Q6ZW05	CF138_HUMAN	patched domain containing 4	257	SSD.					integral to membrane	hedgehog receptor activity	p.C257S(1)									ACTGCGCAAGCAGTCCTTCAT	0.562000													15	31					0	0	0.043863	0	0
ADAM19	8728	broad.mit.edu	37	5	156920037	156920037	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr5:156920037C>A	ENST00000257527.4	-	16	1930	c.1852G>T	c.(1852-1854)Ggt>Tgt	p.G618C	ADAM19_ENST00000430702.2_Missense_Mutation_p.G351C|ADAM19_ENST00000517905.1_Missense_Mutation_p.G618C|ADAM19_ENST00000394020.1_Missense_Mutation_p.G620C	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	618	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	p.G619C(1)|p.G618C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGCATGTCACCCTCCTCCTCA	0.607000													39	67					2.95478e-19	4.16528e-19	0.104719	1	0
GBP4	115361	broad.mit.edu	37	1	89662923	89662923	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:89662923C>A	ENST00000355754.6	-	2	202	c.105G>T	c.(103-105)caG>caT	p.Q35H		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	35						cytoplasm	GTP binding|GTPase activity	p.Q35H(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TCACTGTCAGCTGCTCTTCCT	0.443000													6	145					0.00116845	0.00123935	0.021553	1	0
PDILT	204474	broad.mit.edu	37	16	20410503	20410503	+	Silent	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr16:20410503C>A	ENST00000302451.4	-	2	368	c.120G>T	c.(118-120)ctG>ctT	p.L40L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	40					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.L40L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGCGTTCCTCCAGGATGTGCA	0.597000													75	57					7.83748e-43	1.32751e-42	0.048971	1	0
PTPRU	10076	broad.mit.edu	37	1	29601961	29601961	+	Splice_Site	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:29601961G>T	ENST00000323874.8	+	8	1256	c.1144_splice	c.e8-1	p.E382_splice	PTPRU_ENST00000428026.2_Splice_Site_p.E382_splice|PTPRU_ENST00000460170.2_Splice_Site_p.E382_splice|PTPRU_ENST00000373779.3_Splice_Site_p.E382_splice|PTPRU_ENST00000356870.3_Splice_Site_p.E382_splice|PTPRU_ENST00000345512.3_Splice_Site_p.E382_splice			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	382					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.E382D(3)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ATTCTCCAGAGCCCATGAGGG	0.542000													31	27					5.60225e-13	7.3519e-13	0.041601	1	0
DLGAP3	58512	broad.mit.edu	37	1	35365726	35365726	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:35365726G>A	ENST00000373347.1	-	4	1524	c.1256C>T	c.(1255-1257)gCa>gTa	p.A419V	DLGAP3_ENST00000235180.4_Missense_Mutation_p.A419V			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	419					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.A419V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TCGGGCGACTGCTTTGGGAGA	0.657000													35	120					0	0	0.098360	0	0
CALY	50632	broad.mit.edu	37	10	135140380	135140380	+	Splice_Site	SNP	A	A	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr10:135140380A>G	ENST00000252939.4	-	4	454		c.e4+1		CALY_ENST00000368556.2_Splice_Site|CALY_ENST00000368558.1_Splice_Site|ZNF511_ENST00000368554.4_Intron	NM_015722.3	NP_056537.1	Q9NYX4	CALY_HUMAN	calcyon neuron-specific vesicular protein						clathrin coat assembly|dopamine receptor signaling pathway|endocytosis|positive regulation of endocytosis	cytoplasmic vesicle membrane|integral to plasma membrane	clathrin light chain binding|dopamine receptor binding	p.?(1)		kidney(1)|lung(2)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	Apomorphine(DB00714)|Clozapine(DB00363)|Flupenthixol(DB00875)|Trifluoperazine(DB00831)	TGGCCCCCTTACCCGCAGCAG	0.667000													4	12					0	0	0.009096	0	0
PRSS50	29122	broad.mit.edu	37	3	46757060	46757060	+	Silent	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:46757060G>A	ENST00000460241.1	-	8	2105	c.435C>T	c.(433-435)tcC>tcT	p.S145S	PRSS50_ENST00000315170.7_Silent_p.S145S			Q9UI38	TSP50_HUMAN	protease, serine, 50	145	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	p.S145S(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						GCACCCACTGGGAGGCAATGA	0.647000													15	58					0	0	0.043863	0	0
UMODL1	89766	broad.mit.edu	37	21	43505485	43505485	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr21:43505485C>G	ENST00000400427.1	+	4	746	c.350C>G	c.(349-351)cCc>cGc	p.P117R	UMODL1_ENST00000408989.2_Missense_Mutation_p.P189R|UMODL1_ENST00000408910.2_Missense_Mutation_p.P189R|UMODL1_ENST00000400424.1_Missense_Mutation_p.P117R	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	189	WAP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	p.P117R(1)|p.P189R(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAAGTGGACCCCAGGCTCCTG	0.582000													56	212					0	0	0.048971	0	0
CDK7	1022	broad.mit.edu	37	5	68531237	68531237	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr5:68531237A>G	ENST00000256443.3	+	2	186	c.83A>G	c.(82-84)aAg>aGg	p.K28R	CDK7_ENST00000502604.1_5'UTR|CDK7_ENST00000514676.1_Missense_Mutation_p.K28R|CDK7_ENST00000513629.1_3'UTR	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	28	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity	p.K28R(1)		endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		ACCGTTTACAAGGCCAGAGAT	0.328000								Nucleotide excision repair (NER)					12	88					0	0	0.093190	0	0
WWC2	80014	broad.mit.edu	37	4	184182214	184182214	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr4:184182214G>T	ENST00000403733.3	+	11	1637	c.1438G>T	c.(1438-1440)Gtg>Ttg	p.V480L	WWC2_ENST00000513834.1_Missense_Mutation_p.V480L|WWC2_ENST00000504005.1_Missense_Mutation_p.V162L|WWC2_ENST00000378925.3_Missense_Mutation_p.V382L|WWC2_ENST00000448232.2_Missense_Mutation_p.V480L	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	480								p.V480L(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TCAGATAGATGTGGATTATCA	0.488000													8	31					0.0381472	0.0392243	0.038147	1	0
SLC38A7	55238	broad.mit.edu	37	16	58712724	58712724	+	Silent	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr16:58712724G>A	ENST00000570101.1	-	3	1228	c.345C>T	c.(343-345)taC>taT	p.Y115Y	SLC38A7_ENST00000564010.1_Silent_p.Y26Y|SLC38A7_ENST00000219320.4_Silent_p.Y115Y|SLC38A7_ENST00000564100.1_Silent_p.Y115Y|SLC38A7_ENST00000566953.1_Intron			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	115					amino acid transport|sodium ion transport	integral to membrane		p.Y115Y(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CCACCTCCTGGTAGGTCCTCT	0.552000													30	36					0	0	0.069456	0	0
NTN1	9423	broad.mit.edu	37	17	9083206	9083206	+	Silent	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr17:9083206G>T	ENST00000173229.2	+	4	1397	c.1290G>T	c.(1288-1290)acG>acT	p.T430T	NTN1_ENST00000538852.1_Silent_p.T430T|NTN1_ENST00000546090.1_Silent_p.T430T	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	430	Laminin EGF-like 3.				apoptosis|axon guidance		protein binding	p.T430T(1)	NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						ACGGCGTGACGGGTATCACCT	0.587000													21	29					1.10513e-12	1.43307e-12	0.069288	1	0
TENM2	57451	broad.mit.edu	37	5	167545349	167545349	+	Silent	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr5:167545349C>T	ENST00000519204.1	+	9	1621	c.1503C>T	c.(1501-1503)tgC>tgT	p.C501C	TENM2_ENST00000545108.1_Silent_p.C622C|TENM2_ENST00000403607.2_Silent_p.C455C|TENM2_ENST00000520394.1_Silent_p.C390C|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000518659.1_Silent_p.C622C					teneurin transmembrane protein 2									p.C622C(1)|p.C501C(1)|p.C455C(1)									AAGGGACGTGCCAGTGCTACA	0.577000													12	178					0	0	0.028581	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101735314	101735314	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr5:101735314A>G	ENST00000506729.1	-	10	1930	c.1759T>C	c.(1759-1761)Tct>Cct	p.S587P	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S587P|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.S334P|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.S525P|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.S334P			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	587						integral to membrane|plasma membrane	transporter activity	p.S587P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ATAAGTGTAGAAAAGATAAAA	0.328000													7	31					0	0	0.029380	0	0
CLSTN2	64084	broad.mit.edu	37	3	140285094	140285094	+	Nonstop_Mutation	SNP	A	A	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:140285094A>G	ENST00000458420.3	+	17	3057	c.2867A>G	c.(2866-2868)tAg>tGg	p.*956W		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	0					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.*956W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTCCCCTACTAGTGCCCAGGG	0.577000										HNSCC(16;0.037)			5	3					0	0	0.021553	0	0
CDH7	1005	broad.mit.edu	37	18	63492010	63492010	+	Silent	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr18:63492010C>A	ENST00000536984.2	+	6	1618	c.924C>A	c.(922-924)ggC>ggA	p.G308G	CDH7_ENST00000323011.3_Silent_p.G308G|CDH7_ENST00000397968.2_Silent_p.G308G			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	308	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G308G(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ATGGTTTGGGCATTTTTAAGA	0.368000													8	53					4.3838e-07	5.04137e-07	0.105934	1	0
KCNA10	3744	broad.mit.edu	37	1	111060705	111060705	+	Silent	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:111060705C>T	ENST00000369771.2	-	1	1092	c.705G>A	c.(703-705)ctG>ctA	p.L235L		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	235						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.L235L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCAGTGTCTCCAGGCAGAAGA	0.562000													58	93					0	0	0.048971	0	0
IL4R	3566	broad.mit.edu	37	16	27356218	27356218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr16:27356218G>T	ENST00000395762.2	+	5	497	c.238G>T	c.(238-240)Gga>Tga	p.G80*	IL4R_ENST00000170630.2_Nonsense_Mutation_p.G80*|IL4R_ENST00000380922.3_Nonsense_Mutation_p.G65*|IL4R_ENST00000543915.2_Nonsense_Mutation_p.G80*|IL4R_ENST00000449195.1_Nonsense_Mutation_p.G80*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	80					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.G80*(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TGAGAACAACGGAGGCGCGGG	0.627000													85	69					5.34484e-38	8.88097e-38	0.048971	1	0
DENND2A	27147	broad.mit.edu	37	7	140273808	140273808	+	Splice_Site	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:140273808G>T	ENST00000275884.6	-	5	1663	c.1245_splice	c.e5-1	p.Q416_splice	DENND2A_ENST00000537639.1_Splice_Site_p.Q416_splice|DENND2A_ENST00000492720.1_Splice_Site_p.Q416_splice|DENND2A_ENST00000496613.1_Splice_Site_p.Q416_splice			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	416								p.Q416K(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GACAATGACTGCTGTGAAGGA	0.478000													120	153					1.93806e-58	3.41505e-58	0.048971	1	0
XDH	7498	broad.mit.edu	37	2	31588955	31588955	+	Silent	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:31588955C>T	ENST00000379416.3	-	22	2391	c.2343G>A	c.(2341-2343)ttG>ttA	p.L781L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	781					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.L781L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTGGAACCCCCAACATTTTTG	0.517000													31	248					0	0	0.064281	0	0
SH3RF1	57630	broad.mit.edu	37	4	170077704	170077704	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr4:170077704C>T	ENST00000284637.9	-	3	861	c.520G>A	c.(520-522)Ggg>Agg	p.G174R	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	174	SH3 1.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	p.G174R(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TTGACTTCCCCATGGTACCAA	0.423000													33	89					0	0	0.045705	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904510	144904510	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chrX:144904510G>C	ENST00000370490.1	+	1	4822	c.567G>C	c.(565-567)agG>agC	p.R189S	SLITRK2_ENST00000428560.2_Missense_Mutation_p.R189S|SLITRK2_ENST00000413937.2_Missense_Mutation_p.R189S|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R189S|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R189S			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	189						integral to membrane		p.R189S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TAGACCTCAGGGGGAATAGGC	0.468000													54	94					0	0	0.048971	0	0
CLCN1	1180	broad.mit.edu	37	7	143039586	143039586	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:143039586G>T	ENST00000343257.2	+	16	2005	c.1918G>T	c.(1918-1920)Gtt>Ttt	p.V640F		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	640	CBS 1.				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.V640F(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTTACCACTGGTTGACTCAAA	0.507000													22	40					3.73148e-12	4.74028e-12	0.034045	1	0
MMP9	4318	broad.mit.edu	37	20	44639923	44639923	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr20:44639923C>A	ENST00000372330.3	+	5	810	c.791C>A	c.(790-792)aCc>aAc	p.T264N		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	264	Fibronectin type-II 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.T264N(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	AACTACGACACCGACGACCGG	0.652000													72	108					2.14232e-31	3.4546e-31	0.048971	1	0
PIK3C3	5289	broad.mit.edu	37	18	39537617	39537617	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr18:39537617C>G	ENST00000262039.4	+	2	237	c.151C>G	c.(151-153)Caa>Gaa	p.Q51E	PIK3C3_ENST00000398870.3_Intron|PIK3C3_ENST00000590220.1_Intron|PIK3C3_ENST00000586545.1_Missense_Mutation_p.Q51E	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	51					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	p.Q51E(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AGGACTATATCAAGAGACATG	0.418000										TSP Lung(28;0.18)			49	70					0	0	0.048971	0	0
ZNF665	79788	broad.mit.edu	37	19	53669109	53669109	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:53669109C>A	ENST00000600412.1	-	2	554	c.439G>T	c.(439-441)Ggc>Tgc	p.G147C	ZNF665_ENST00000396424.3_Missense_Mutation_p.G212C			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G147C(1)|p.G212C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AAGGCTTTGCCACACTTATTA	0.393000													39	74					2.75727e-19	3.89944e-19	0.074837	1	0
SP140L	93349	broad.mit.edu	37	2	231264881	231264881	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:231264881G>T	ENST00000243810.6	+	15	1237	c.1237G>T	c.(1237-1239)Ggg>Tgg	p.G413W	SP140L_ENST00000415673.2_Missense_Mutation_p.G413W|SP140L_ENST00000444636.1_Missense_Mutation_p.G413W|SP140L_ENST00000396563.4_Missense_Mutation_p.G378W			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	413						nucleus	DNA binding|metal ion binding	p.G413W(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CCGGGACGGAGGGGAGCTGTT	0.522000													60	80					1.99748e-12	2.56735e-12	0.048971	1	0
CYP4B1	1580	broad.mit.edu	37	1	47282729	47282729	+	Silent	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:47282729G>T	ENST00000271153.4	+	9	1116	c.1080G>T	c.(1078-1080)ctG>ctT	p.L360L	CYP4B1_ENST00000452782.2_Silent_p.L198L|CYP4B1_ENST00000371919.4_Silent_p.L346L|CYP4B1_ENST00000371923.4_Silent_p.L361L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	360					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.G361C(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GGGATGATCTGGGCAAAATGA	0.547000													32	198					3.11337e-16	4.23846e-16	0.054565	1	0
GPRIN3	285513	broad.mit.edu	37	4	90169061	90169061	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr4:90169061G>T	ENST00000333209.3	-	2	2719	c.2201C>A	c.(2200-2202)tCc>tAc	p.S734Y		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	734								p.S734Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGAGGAAATGGATCTCCGGGT	0.478000													58	228					3.93605e-18	5.49539e-18	0.048971	1	0
CDK5RAP3	80279	broad.mit.edu	37	17	46052626	46052626	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr17:46052626A>T	ENST00000536708.2	+	6	620	c.511A>T	c.(511-513)Aag>Tag	p.K171*	CDK5RAP3_ENST00000338399.4_Nonsense_Mutation_p.K146*	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	146					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	p.K146*(1)		NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						ATACAGCCGCAAGGAGGAGGA	0.587000													39	57					0	0	0.048971	0	0
OTOGL	283310	broad.mit.edu	37	12	80707373	80707373	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:80707373G>T	ENST00000458043.2	+	30	3547	c.3541G>T	c.(3541-3543)Gaa>Taa	p.E1181*	OTOGL_ENST00000547103.1_Nonsense_Mutation_p.E1181*	NM_173591.3	NP_775862.3			otogelin-like									p.E1181*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTGTTGTCAGGAAGGAATATC	0.358000													23	53					9.04412e-07	1.03193e-06	0.099896	1	0
GDF6	392255	broad.mit.edu	37	8	97172982	97172982	+	Translation_Start_Site	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr8:97172982C>T	ENST00000287020.5	-	0	38					NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6						activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GCGCGGGGCACGGAGCGGCTG	0.761000													10	15					0	0	0.080935	0	0
MAP2	4133	broad.mit.edu	37	2	210561775	210561775	+	Splice_Site	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:210561775G>T	ENST00000360351.4	+	9	5028	c.4522_splice	c.e9+1	p.A1508_splice	MAP2_ENST00000475600.1_Intron|MAP2_ENST00000447185.1_Splice_Site_p.A1504_splice|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1508					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.A1508S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GAAAACCACAGGTGACTGTTC	0.373000													55	47					1.02487e-32	1.66494e-32	0.048971	1	0
AMPD2	271	broad.mit.edu	37	1	110172892	110172892	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:110172892T>A	ENST00000256578.3	+	16	2543	c.2183T>A	c.(2182-2184)aTc>aAc	p.I728N	AMPD2_ENST00000393688.3_Missense_Mutation_p.I609N|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000358729.4_Missense_Mutation_p.I653N|AMPD2_ENST00000342115.4_Missense_Mutation_p.I647N|AMPD2_ENST00000528667.1_Missense_Mutation_p.I728N|AMPD2_ENST00000528454.1_Missense_Mutation_p.I610N|AMPD2_ENST00000526301.1_3'UTR	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	728					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.I728N(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGGCCCAGATCGGCATCGCC	0.657000													8	327					0	0	0.058154	0	0
USP19	10869	broad.mit.edu	37	3	49151718	49151718	+	Splice_Site	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:49151718C>A	ENST00000453664.1	-	16	2575		c.e16-1		USP19_ENST00000398898.2_Splice_Site|USP19_ENST00000398896.1_Splice_Site|USP19_ENST00000434032.2_Splice_Site|USP19_ENST00000398888.2_Splice_Site|USP19_ENST00000417901.1_Splice_Site|USP19_ENST00000398892.3_Splice_Site	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19						ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.?(2)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGATGGAGACCTGTGGATGTA	0.537000													28	85					7.41945e-09	8.69249e-09	0.108266	1	0
GABRA3	2556	broad.mit.edu	37	X	151424261	151424261	+	Silent	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chrX:151424261G>T	ENST00000370314.4	-	5	778	c.540C>A	c.(538-540)ctC>ctA	p.L180L	GABRA3_ENST00000370311.1_Silent_p.L180L|GABRA3_ENST00000535043.1_Silent_p.L180L	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	180				L -> P (in Ref. 3; AAH28629).	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.L180L(1)|p.L70L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCATTGTATAGAGGAGGGTTC	0.478000													64	23					1.43675e-24	2.19532e-24	0.048971	1	0
MDGA2	161357	broad.mit.edu	37	14	47426714	47426714	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr14:47426714A>T	ENST00000426342.1	-	9	1804	c.1058T>A	c.(1057-1059)tTa>tAa	p.L353*	MDGA2_ENST00000399232.2_Nonsense_Mutation_p.L651*|MDGA2_ENST00000439988.2_Nonsense_Mutation_p.L582*|MDGA2_ENST00000357362.3_Nonsense_Mutation_p.L353*	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	582	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.L353*(2)|p.L651*(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CGTCCGTAATAATTTATTGCC	0.443000													13	52					0	0	0.093190	0	0
LAMA1	284217	broad.mit.edu	37	18	6971968	6971968	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr18:6971968C>A	ENST00000389658.3	-	48	6880	c.6787G>T	c.(6787-6789)Gtg>Ttg	p.V2263L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2263	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.V2263L(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTAACCTTCACAGCAGGAGAT	0.423000													58	95					4.09106e-26	6.27297e-26	0.048971	1	0
LRP2	4036	broad.mit.edu	37	2	170101331	170101331	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:170101331C>A	ENST00000263816.3	-	22	3587	c.3302G>T	c.(3301-3303)tGc>tTc	p.C1101F	LRP2_ENST00000443831.1_Missense_Mutation_p.C964F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1101	LDL-receptor class A 9.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.C1101F(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTGGGTGGGGCAGTTGTGCTC	0.532000													51	151					7.36392e-32	1.19186e-31	0.048971	1	0
LOC101928215	101928215	broad.mit.edu	37	16	29115346	29115346	+	RNA	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr16:29115346C>T	ENST00000562618.1	-	0	1471				RRN3P2_ENST00000564580.1_RNA																							CCAATTTTGACTTCTGCTGAA	0.343000													8	74					0	0	0.058154	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113563429	113563429	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:113563429A>G	ENST00000358160.4	+	2	599	c.107A>G	c.(106-108)gAg>gGg	p.E36G	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	36						integral to membrane		p.E36G(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ACTGTGGAAGAGAATAATGTG	0.373000													47	158					0	0	0.048971	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5235286	5235286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr5:5235286C>A	ENST00000274181.7	+	13	2148	c.2010C>A	c.(2008-2010)taC>taA	p.Y670*	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	670	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Y670*(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGAAGCCTTACACTCAAGTAG	0.473000													28	62					4.02929e-09	4.75891e-09	0.045705	1	0
LGR5	8549	broad.mit.edu	37	12	71960644	71960644	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:71960644C>A	ENST00000266674.5	+	11	1333	c.1022C>A	c.(1021-1023)tCa>tAa	p.S341*	LGR5_ENST00000540815.2_Nonsense_Mutation_p.S317*|LGR5_ENST00000536515.1_Nonsense_Mutation_p.S269*			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	341						integral to plasma membrane	protein-hormone receptor activity	p.S341*(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GCACAGATCTCATCTCTTCCT	0.398000													32	72					3.93418e-24	5.9284e-24	0.069456	1	0
RLF	6018	broad.mit.edu	37	1	40627278	40627278	+	Silent	SNP	A	A	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:40627278A>T	ENST00000372771.4	+	1	234	c.207A>T	c.(205-207)tcA>tcT	p.S69S		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	69					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.S69S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CGGAGGTCTCATCTTTGAACT	0.662000													33	66					0	0	0.054565	0	0
ZMYND11	10771	broad.mit.edu	37	10	225956	225956	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr10:225956G>A	ENST00000397962.3	+	2	432	c.4G>A	c.(4-6)Gca>Aca	p.A2T	ZMYND11_ENST00000558098.2_Missense_Mutation_p.A2T|ZMYND11_ENST00000381607.4_5'UTR|ZMYND11_ENST00000397959.3_Missense_Mutation_p.A2T|ZMYND11_ENST00000381602.4_5'UTR|ZMYND11_ENST00000509513.2_Missense_Mutation_p.A2T|ZMYND11_ENST00000381604.4_5'UTR|ZMYND11_ENST00000381591.1_Missense_Mutation_p.A2T|ZMYND11_ENST00000602682.1_Missense_Mutation_p.A2T|ZMYND11_ENST00000402736.1_Missense_Mutation_p.A2T|ZMYND11_ENST00000309776.4_5'UTR|ZMYND11_ENST00000381584.1_5'UTR|ZMYND11_ENST00000403354.1_Missense_Mutation_p.A2T			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	0					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A2T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACAGGTCATGGCACGTTTAAC	0.363000													27	23					0	0	0.099896	0	0
DSCAM	1826	broad.mit.edu	37	21	41648050	41648050	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr21:41648050C>T	ENST00000400454.1	-	11	2807	c.2330G>A	c.(2329-2331)aGc>aAc	p.S777N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	777	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.S777N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CATGGACTTGCTGACGTCTGC	0.468000													15	41					0	0	0.028581	0	0
POSTN	10631	broad.mit.edu	37	13	38138664	38138664	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr13:38138664T>A	ENST00000379747.4	-	22	2582	c.2465A>T	c.(2464-2466)aAa>aTa	p.K822I	POSTN_ENST00000541179.1_Missense_Mutation_p.K767I|POSTN_ENST00000379742.4_Missense_Mutation_p.K765I|POSTN_ENST00000379749.4_Missense_Mutation_p.K794I|POSTN_ENST00000379743.4_Missense_Mutation_p.K795I|POSTN_ENST00000541481.1_Missense_Mutation_p.K735I	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	822					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.K822I(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ACCTTGAACTTTTTTGTTGGC	0.333000													17	27					0	0	0.043863	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142567166	142567166	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:142567166G>A	ENST00000295992.3	-	3	647	c.341C>T	c.(340-342)gCc>gTc	p.A114V	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.A114V	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	114	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity	p.A114V(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGACACAAGGGCTCCAGGCCG	0.542000													28	73					0	0	0.037714	0	0
WDR66	144406	broad.mit.edu	37	12	122369737	122369737	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:122369737G>T	ENST00000288912.4	+	4	1687	c.833G>T	c.(832-834)tGt>tTt	p.C278F	WDR66_ENST00000397454.2_Missense_Mutation_p.C278F	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	278							calcium ion binding	p.C278F(1)		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)		CTGTATGTTTGTGCTCACACT	0.463000													97	120					4.31119e-35	7.05614e-35	0.048971	1	0
BDP1	55814	broad.mit.edu	37	5	70812006	70812006	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr5:70812006C>G	ENST00000358731.4	+	21	5031	c.4768C>G	c.(4768-4770)Caa>Gaa	p.Q1590E	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1590					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.Q1590E(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGGACAGAGGCAAATAGTAGA	0.398000													3	13					0	0	0.021553	0	0
BRD8	10902	broad.mit.edu	37	5	137500094	137500094	+	Silent	SNP	A	A	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr5:137500094A>G	ENST00000254900.5	-	13	2111	c.1740T>C	c.(1738-1740)ccT>ccC	p.P580P	BRD8_ENST00000455658.2_Silent_p.P539P|BRD8_ENST00000411594.2_Silent_p.P583P|BRD8_ENST00000402931.1_Silent_p.P580P|BRD8_ENST00000230901.5_Silent_p.P653P|BRD8_ENST00000515014.1_5'UTR	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	580					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	p.P653P(1)|p.P580P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACATGCTTTCAGGGGATGCCT	0.398000													3	135					0	0	0.004672	0	0
ABCA6	23460	broad.mit.edu	37	17	67132263	67132263	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr17:67132263T>C	ENST00000284425.2	-	4	604	c.430A>G	c.(430-432)Aac>Gac	p.N144D	ABCA6_ENST00000590645.1_Missense_Mutation_p.N144D	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	144					transport	integral to membrane	ATP binding|ATPase activity	p.N144D(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGTGGACTGTTATATCCCTGG	0.323000													2	7					0	0	0.004672	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125367481	125367481	+	Silent	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:125367481G>T	ENST00000431078.1	+	12	2221	c.1857G>T	c.(1855-1857)gtG>gtT	p.V619V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	619	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.V619V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTCTCCAGGTGTACTGCAATA	0.527000													3	65					0.004672	0.00490785	0.004672	1	0
HES4	57801	broad.mit.edu	37	1	935138	935138	+	Silent	SNP	G	G	C	rs140166926	byFrequency	TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:935138G>C	ENST00000428771.2	-	1	414	c.216C>G	c.(214-216)cgC>cgG	p.R72R	HES4_ENST00000304952.6_Silent_p.R46R|HES4_ENST00000484667.2_Intron	NM_001142467.1|NM_021170.3	NP_001135939.1|NP_066993.1	Q9HCC6	HES4_HUMAN	hes family bHLH transcription factor 4	46	Helix-loop-helix motif.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R46R(1)		lung(2)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TACGCGCTCGGCGCCGCTTCT	0.701000													8	36					0	0	0.028581	0	0
TRAV18	28665	broad.mit.edu	37	14	22471872	22471872	+	RNA	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr14:22471872C>A	ENST00000390446.3	+	0	400																											GCCCTCGGTGCAGCTGTCGGA	0.587000													9	40					2.17888e-05	2.429e-05	0.058154	1	0
GLI3	2737	broad.mit.edu	37	7	42007443	42007443	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:42007443G>C	ENST00000395925.3	-	14	2266	c.2182C>G	c.(2182-2184)Ctc>Gtc	p.L728V	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	728					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L728V(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGAAGCTCGAGCCCACTGTTG	0.537000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				27	267					0	0	0.041601	0	0
RRAGD	58528	broad.mit.edu	37	6	90088977	90088977	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:90088977G>A	ENST00000369415.4	-	4	1001	c.725C>T	c.(724-726)cCa>cTa	p.P242L	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.2_Missense_Mutation_p.P91L	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	242					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	p.P242L(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CTCCAGAGTTGGGAGTTGTGG	0.323000													9	65					0	0	0.069234	0	0
TJP2	9414	broad.mit.edu	37	9	71869204	71869204	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr9:71869204G>T	ENST00000377245.4	+	23	3695	c.3487G>T	c.(3487-3489)Gag>Tag	p.E1163*	TJP2_ENST00000453658.2_Nonsense_Mutation_p.E993*|TJP2_ENST00000535702.1_Nonsense_Mutation_p.E1130*|TJP2_ENST00000348208.4_Nonsense_Mutation_p.E1016*|TJP2_ENST00000539225.1_Nonsense_Mutation_p.E1194*	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1163	Poly-Glu.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	p.E1163*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TGATGCCGAGGAGGAGGAGTA	0.522000													17	70					6.94344e-10	8.33595e-10	0.038395	1	0
SVEP1	79987	broad.mit.edu	37	9	113261349	113261349	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr9:113261349A>T	ENST00000401783.2	-	7	1989	c.1653T>A	c.(1651-1653)aaT>aaA	p.N551K	SVEP1_ENST00000374469.1_Missense_Mutation_p.N528K|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.N551K|SVEP1_ENST00000374461.1_Missense_Mutation_p.N528K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	551	Sushi 3.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.N551K(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAACTCCGACATTCCATTTTC	0.413000													5	27					0	0	0.029380	0	0
CNKSR1	10256	broad.mit.edu	37	1	26510756	26510756	+	Silent	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:26510756C>A	ENST00000531191.1	+	10	1211	c.204C>A	c.(202-204)ccC>ccA	p.P68P	CNKSR1_ENST00000374253.5_Silent_p.P333P|CNKSR1_ENST00000361530.6_Silent_p.P326P			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	333	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	p.P326P(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCCAGTCCCGGACCCAGCC	0.627000													10	292					0.0692343	0.0708557	0.069234	1	0
FAR2	55711	broad.mit.edu	37	12	29423409	29423409	+	Silent	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:29423409C>A	ENST00000182377.4	+	2	295	c.27C>A	c.(25-27)ggC>ggA	p.G9G	FAR2_ENST00000536681.2_Silent_p.G9G|FAR2_ENST00000547116.1_Intron	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	9					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	p.G9G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTTTCTATGGCGGCAAGTCCA	0.458000													18	33					3.6726e-16	4.98425e-16	0.091800	1	0
DNAH7	56171	broad.mit.edu	37	2	196834820	196834820	+	Splice_Site	SNP	T	T	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:196834820T>A	ENST00000312428.6	-	17	2159		c.e17-2			NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.?(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACACCGTAACTAATAAAAACA	0.308000													22	24					0	0	0.099896	0	0
COL5A2	1290	broad.mit.edu	37	2	189914102	189914102	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:189914102T>A	ENST00000374866.3	-	44	3392	c.3118A>T	c.(3118-3120)Aat>Tat	p.N1040Y		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1040					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.N1040Y(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACAGGACCATTGGAGCCTGGG	0.453000													11	6					0	0	0.105934	0	0
MUC16	94025	broad.mit.edu	37	19	9067228	9067228	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:9067228C>A	ENST00000397910.4	-	3	20421	c.20218G>T	c.(20218-20220)Ggt>Tgt	p.G6740C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6742	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G6740C(2)|p.G2373C(1)		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						AGAGGAGGACCTGTTCGAGTG	0.502000													335	107					3.31527e-164	5.96202e-164	0.048971	1	0
NCOA1	8648	broad.mit.edu	37	2	24920627	24920627	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:24920627G>T	ENST00000405141.1	+	12	1620	c.909G>T	c.(907-909)caG>caT	p.Q303H	NCOA1_ENST00000407230.1_Missense_Mutation_p.Q152H|NCOA1_ENST00000395856.3_Missense_Mutation_p.Q303H|NCOA1_ENST00000406961.1_Missense_Mutation_p.Q303H|NCOA1_ENST00000348332.3_Missense_Mutation_p.Q303H|NCOA1_ENST00000288599.5_Missense_Mutation_p.Q303H|NCOA1_ENST00000538539.1_Missense_Mutation_p.Q303H			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	303								p.Q303H(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAACCTCAGGGCAGAGAAC	0.378000			T	PAX3	alveolar rhadomyosarcoma								40	122					2.47872e-24	3.76112e-24	0.039052	1	0
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104																											TTGAAACAGCTGGTGTATTAA	0.373000													4	45					0	0	0.009096	0	0
HCCAT5	283902	broad.mit.edu	37	16	73126791	73126791	+	RNA	SNP	C	C	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr16:73126791C>G	ENST00000569990.2	+	0	544					NR_027756.1																						CTGTGTGTGTCCCACGCGCTC	0.532000													3	41					0	0	0.004672	0	0
IFNA16	3449	broad.mit.edu	37	9	21216810	21216810	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr9:21216810C>A	ENST00000380216.1	-	1	500	c.495G>T	c.(493-495)gaG>gaT	p.E165D		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	165					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.E165D(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CTCTGACAACCTCCCAGGCAC	0.408000													113	161					4.10022e-50	7.13862e-50	0.048971	1	0
CNGA2	1260	broad.mit.edu	37	X	150908126	150908126	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chrX:150908126G>T	ENST00000329903.4	+	3	329	c.296G>T	c.(295-297)cGt>cTt	p.R99L		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	99					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.R99L(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCGTTTTCGTGGGCCTGAA	0.552000													83	24					4.78148e-37	7.88494e-37	0.048971	1	0
NGF	4803	broad.mit.edu	37	1	115829306	115829306	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:115829306C>A	ENST00000369512.2	-	3	279	c.111G>T	c.(109-111)tgG>tgT	p.W37C	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	37					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	p.W37C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GAAGTTTAGTCCAGTGGGCTT	0.592000													39	70					1.69901e-12	2.19017e-12	0.080422	1	0
XIRP2	129446	broad.mit.edu	37	2	168107680	168107680	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:168107680G>T	ENST00000409195.1	+	9	9867	c.9778G>T	c.(9778-9780)Gag>Tag	p.E3260*	XIRP2_ENST00000295237.9_Nonsense_Mutation_p.E3260*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.E3038*|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3085					actin cytoskeleton organization	cell junction	actin binding	p.E3260*(1)		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						GGACGCTCAAGAGGAAATCAG	0.423000													23	68					9.95505e-16	1.33447e-15	0.069288	1	0
TNNI3	7137	broad.mit.edu	37	19	55666160	55666160	+	Silent	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:55666160C>A	ENST00000344887.5	-	6	463	c.321G>T	c.(319-321)gtG>gtT	p.V107V	CTD-2587H24.4_ENST00000587871.1_3'UTR|TNNI3_ENST00000588882.1_Silent_p.V82V|TNNI3_ENST00000590463.1_5'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	107					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	p.V107V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCTCTTCATCCACCTTGTCCA	0.572000													18	52					2.21704e-12	2.83288e-12	0.076483	1	0
SKP2	6502	broad.mit.edu	37	5	36152994	36152994	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr5:36152994G>C	ENST00000274255.6	+	2	326	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	SKP2_ENST00000546211.1_5'UTR|SKP2_ENST00000508514.1_Missense_Mutation_p.E44Q|SKP2_ENST00000274254.5_Missense_Mutation_p.E44Q	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	44					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.E44Q(2)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTGGAGAAAGAGGAGCCCGA	0.592000													47	52					0	0	0.048971	0	0
KDM2A	22992	broad.mit.edu	37	11	67021866	67021866	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:67021866C>G	ENST00000529006.2	+	20	3730	c.3284C>G	c.(3283-3285)tCt>tGt	p.S1095C	KDM2A_ENST00000530342.1_Missense_Mutation_p.S656C|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.S553C|KDM2A_ENST00000398645.2_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1095					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.S1095C(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ACTCGCTACTCTCTCACAGAG	0.547000													23	155					0	0	0.030593	0	0
FBXO33	254170	broad.mit.edu	37	14	39870751	39870751	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr14:39870751T>A	ENST00000298097.7	-	3	1362	c.1025A>T	c.(1024-1026)cAc>cTc	p.H342L	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	342								p.H342L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		AGAAACATTGTGAACCAGAAG	0.443000													82	103					0	0	0.048971	0	0
SLC14A1	6563	broad.mit.edu	37	18	43319551	43319551	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr18:43319551C>T	ENST00000589700.1	+	5	722	c.722C>T	c.(721-723)gCt>gTt	p.A241V	SLC14A1_ENST00000502059.2_Silent_p.S182S|SLC14A1_ENST00000535474.1_Silent_p.S158S|SLC14A1_ENST00000402943.2_Silent_p.S185S|SLC14A1_ENST00000436407.3_Silent_p.S346S|SLC14A1_ENST00000415427.3_Silent_p.S346S|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000591541.1_5'UTR|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000586142.1_Silent_p.S290S|SLC14A1_ENST00000321925.4_Silent_p.S290S			Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	0						integral to plasma membrane	urea transmembrane transporter activity	p.S346S(1)|p.S290S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GTTTCAACAGCTCTCTGGCCT	0.562000													39	87					0	0	0.086207	0	0
ZNF702P	79986	broad.mit.edu	37	19	53484168	53484168	+	RNA	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:53484168C>A	ENST00000600068.1	-	0	190				ZNF702P_ENST00000270443.4_RNA																							ACCCTGGCTCCTTTTCTTTGC	0.383000													18	31					2.89027e-11	3.56793e-11	0.069288	1	0
SCRG1	11341	broad.mit.edu	37	4	174312327	174312327	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr4:174312327G>T	ENST00000296506.2	-	2	721	c.239C>A	c.(238-240)cCa>cAa	p.P80Q		NM_007281.2	NP_009212.1	O75711	SCRG1_HUMAN	stimulator of chondrogenesis 1	80					nervous system development	extracellular space		p.P80Q(1)		large_intestine(1)|lung(4)|skin(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		TCCTTACTTTGGGCAGCAGAG	0.408000													33	83					1.42033e-22	2.09691e-22	0.069456	1	0
LRCH3	84859	broad.mit.edu	37	3	197598238	197598238	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:197598238G>T	ENST00000438796.2	+	19	2079	c.2035G>T	c.(2035-2037)Gga>Tga	p.G679*	LRCH3_ENST00000414675.2_Nonsense_Mutation_p.G627*|LRCH3_ENST00000441090.2_Nonsense_Mutation_p.G525*|LRCH3_ENST00000425562.2_Nonsense_Mutation_p.G679*|LRCH3_ENST00000334859.4_Nonsense_Mutation_p.G679*|LRCH3_ENST00000536618.1_Nonsense_Mutation_p.G274*			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	679	CH.					extracellular region		p.G679*(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TTGTGATCTCGGAGCAGCTCT	0.423000													76	335					1.91123e-38	3.18781e-38	0.048971	1	0
CHRM3	1131	broad.mit.edu	37	1	240072434	240072434	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:240072434C>A	ENST00000255380.4	+	5	2462	c.1683C>A	c.(1681-1683)tgC>tgA	p.C561*		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	561					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.C561*(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGCTGCTGTGCCAGTGTGACA	0.517000													21	51					1.10923e-09	1.32441e-09	0.076483	1	0
PIP5K1C	23396	broad.mit.edu	37	19	3641807	3641807	+	Splice_Site	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:3641807C>A	ENST00000335312.3	-	15	1771	c.1682_splice	c.e15-1	p.R561_splice	PIP5K1C_ENST00000589578.1_Splice_Site_p.R561_splice|PIP5K1C_ENST00000539785.1_Splice_Site_p.R561_splice|PIP5K1C_ENST00000537021.1_Splice_Site_p.R561_splice	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	561					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	p.R561S(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CCTCCTGCGGCCTGCAGGCAA	0.637000													39	12					6.1244e-12	7.75758e-12	0.098360	1	0
C18orf25	147339	broad.mit.edu	37	18	43796093	43796093	+	Silent	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr18:43796093C>A	ENST00000282059.6	+	2	621	c.247C>A	c.(247-249)Cga>Aga	p.R83R	C18orf25_ENST00000321319.6_Silent_p.R83R	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	83								p.R83R(1)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TACAACTGGCCGAGTTTATGA	0.468000													52	97					3.00063e-23	4.46011e-23	0.048971	1	0
HP1BP3	50809	broad.mit.edu	37	1	21071463	21071463	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:21071463T>A	ENST00000375003.2	-	9	2533	c.1033A>T	c.(1033-1035)Aaa>Taa	p.K345*	HP1BP3_ENST00000312239.5_Nonsense_Mutation_p.K497*			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	497	H15 3.				nucleosome assembly	nucleosome|nucleus	DNA binding	p.K497*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GGAGGTGCTTTCTTAGGCAAG	0.562000													24	107					0	0	0.076483	0	0
ABCA5	23461	broad.mit.edu	37	17	67302912	67302912	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr17:67302912T>A	ENST00000392676.3	-	6	806	c.742A>T	c.(742-744)Ata>Tta	p.I248L	ABCA5_ENST00000392677.2_Missense_Mutation_p.I248L|ABCA5_ENST00000588877.1_Missense_Mutation_p.I248L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	248					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	p.I248L(1)|p.I248fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					AATTCTTTTATTTTTTTTTCT	0.244000													15	10					0	0	0.038395	0	0
ZNF716	441234	broad.mit.edu	37	7	57529498	57529498	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:57529498C>A	ENST00000420713.1	+	4	1443	c.1331C>A	c.(1330-1332)gCc>gAc	p.A444D		NM_001159279.1	NP_001152751.1			zinc finger protein 716									p.A444D(2)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						TGTGGGAAAGCCTTTACCTTC	0.373000													13	15					1.49906e-05	1.67542e-05	0.020292	1	0
S1PR3	1903	broad.mit.edu	37	9	91616344	91616344	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr9:91616344T>C	ENST00000375846.3	+	1	4924	c.229T>C	c.(229-231)Ttc>Ctc	p.F77L	S1PR3_ENST00000358157.2_Missense_Mutation_p.F77L			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	77					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.F77L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						CATGTACTTTTTCATTGGCAA	0.488000											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	125					0	0	0.098360	0	0
EDEM2	55741	broad.mit.edu	37	20	33711807	33711807	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr20:33711807T>A	ENST00000540582.1	-	13	1598	c.877A>T	c.(877-879)Agg>Tgg	p.R293W	EDEM2_ENST00000541621.1_Missense_Mutation_p.R113W|EDEM2_ENST00000374492.3_Missense_Mutation_p.R334W|EDEM2_ENST00000542871.1_Missense_Mutation_p.R58W|EDEM2_ENST00000374491.2_Missense_Mutation_p.R297W			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	334					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.R334W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGGAAGGTCCTCATGGCATTG	0.502000													47	66					0	0	0.048971	0	0
EPHB1	2047	broad.mit.edu	37	3	134873028	134873028	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:134873028T>G	ENST00000398015.3	+	6	1702	c.1332T>G	c.(1330-1332)agT>agG	p.S444R	EPHB1_ENST00000493838.1_Missense_Mutation_p.S5R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	444	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.S444R(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACCAAGTCAGTGCCACTATGA	0.542000													5	370					0	0	0.021553	0	0
KCNH8	131096	broad.mit.edu	37	3	19575003	19575003	+	Silent	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:19575003C>T	ENST00000328405.2	+	16	3002	c.2736C>T	c.(2734-2736)agC>agT	p.S912S		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	912						integral to membrane	two-component sensor activity	p.S912S(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTTTGCACAGCACCTCTGTGT	0.522000													46	46					0	0	0.048971	0	0
FAM47B	170062	broad.mit.edu	37	X	34961142	34961142	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chrX:34961142C>A	ENST00000329357.5	+	1	230	c.194C>A	c.(193-195)cCt>cAt	p.P65H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	65								p.P65H(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGTCAGTCTCCTGAAGATACG	0.547000													42	15					5.82388e-19	8.1834e-19	0.048971	1	0
CMYA5	202333	broad.mit.edu	37	5	79029481	79029481	+	Silent	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr5:79029481G>T	ENST00000446378.2	+	2	4924	c.4893G>T	c.(4891-4893)ccG>ccT	p.P1631P		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1631						perinuclear region of cytoplasm		p.P1631P(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CACACCAACCGTTGGAATTAC	0.423000													14	51					7.87624e-14	1.03672e-13	0.076483	1	0
CSMD2	114784	broad.mit.edu	37	1	33985220	33985220	+	Silent	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:33985220C>A	ENST00000373381.4	-	70	10970	c.10794G>T	c.(10792-10794)cgG>cgT	p.R3598R		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3454						integral to membrane|plasma membrane	protein binding	p.R3454R(1)		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)				CAAATGTGGCCCGAACATTGG	0.532000													109	555					1.9213e-43	3.29258e-43	0.048971	1	0
NRCAM	4897	broad.mit.edu	37	7	107878195	107878195	+	Splice_Site	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:107878195C>A	ENST00000379028.3	-	5	595		c.e5+1		NRCAM_ENST00000425651.2_Splice_Site|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379024.4_Splice_Site|NRCAM_ENST00000379022.4_Intron			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule						angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.?(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGGACACTTACAGTCTTCAAG	0.318000													4	14					0.00116845	0.00123935	0.021553	1	0
UBN2	254048	broad.mit.edu	37	7	138954223	138954223	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:138954223A>G	ENST00000288561.8	+	8	1550	c.1301A>G	c.(1300-1302)aAa>aGa	p.K434R	UBN2_ENST00000473989.2_Missense_Mutation_p.K517R	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	517								p.K434R(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CCATGCAATAAAGAAACACTA	0.393000													22	99					0	0	0.069288	0	0
ABCC5	10057	broad.mit.edu	37	3	183669353	183669353	+	Silent	SNP	C	C	T	rs139563504	by1000genomes	TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:183669353C>T	ENST00000334444.6	-	20	3060	c.2820G>A	c.(2818-2820)acG>acA	p.T940T	ABCC5_ENST00000265586.6_Silent_p.T940T	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	940	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.T940T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AAGCTCGCAGCGTGCCCTGAG	0.592000													21	143					0	0	0.108266	0	0
USH1C	10083	broad.mit.edu	37	11	17517199	17517199	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:17517199C>A	ENST00000005226.7	-	26	2571	c.2572G>T	c.(2572-2574)Gaa>Taa	p.E858*	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.E858*(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TGGGGGCTTTCAGCTACGGAG	0.577000													5	356					0.00116845	0.00123935	0.021553	1	0
HGF	3082	broad.mit.edu	37	7	81346644	81346644	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:81346644C>G	ENST00000222390.5	-	11	1535	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q	HGF_ENST00000457544.2_Missense_Mutation_p.E432Q	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	437	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.E437Q(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CAGTAATTCTCATTCAGCTTA	0.438000													25	58					0	0	0.030593	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95108209	95108209	+	RNA	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr14:95108209G>A	ENST00000469935.1	+	0	814					NR_015340.1													p.A185A(1)									AAACCACAGCGGTTCTGGTGA	0.562000													46	129					0	0	0.048971	0	0
OR10A2	341276	broad.mit.edu	37	11	6891431	6891431	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:6891431G>T	ENST00000307322.4	+	1	508	c.446G>T	c.(445-447)tGg>tTg	p.W149L		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W149L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CAGACCACATGGCTCTTCAGT	0.537000													70	143					1.34159e-35	2.20405e-35	0.048971	1	0
STEAP2	261729	broad.mit.edu	37	7	89856415	89856415	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:89856415T>A	ENST00000287908.3	+	3	1016	c.623T>A	c.(622-624)cTc>cAc	p.L208H	STEAP2_ENST00000394626.1_Missense_Mutation_p.L208H|STEAP2_ENST00000394632.1_Missense_Mutation_p.L208H|STEAP2_ENST00000402625.2_Missense_Mutation_p.L208H|STEAP2_ENST00000394622.2_Missense_Mutation_p.L208H|STEAP2_ENST00000394629.2_Missense_Mutation_p.L208H|STEAP2_ENST00000394621.2_Missense_Mutation_p.L208H	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	208					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	p.L208H(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CCCCTACGACTCTTTACTCTC	0.428000													27	47					0	0	0.108266	0	0
MUC16	94025	broad.mit.edu	37	19	9073450	9073450	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:9073450G>T	ENST00000397910.4	-	3	14199	c.13996C>A	c.(13996-13998)Ctt>Att	p.L4666I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4668	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L4666I(2)|p.L299I(1)		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						GAGTTTGAAAGTCTACTGCTG	0.453000													18	241					3.32936e-07	3.84902e-07	0.038395	1	0
OAS3	4940	broad.mit.edu	37	12	113382446	113382446	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:113382446G>T	ENST00000228928.7	+	3	805	c.626G>T	c.(625-627)tGg>tTg	p.W209L	OAS3_ENST00000546638.1_3'UTR|OAS3_ENST00000548514.1_Missense_Mutation_p.W209L|RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	209	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	p.W209L(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GTGAAGCACTGGTACCACCAG	0.507000													19	29					3.62473e-10	4.37571e-10	0.062417	1	0
BAI3	577	broad.mit.edu	37	6	69759195	69759195	+	Missense_Mutation	SNP	G	G	T	rs112866971		TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:69759195G>T	ENST00000370598.1	+	15	3111	c.2290G>T	c.(2290-2292)Gca>Tca	p.A764S		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	764					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A764S(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGTTCTTGGCGCAGTCCTATA	0.274000													4	12					0.00116845	0.00123935	0.021553	1	0
PRAMEF4	400735	broad.mit.edu	37	1	12939691	12939691	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:12939691C>T	ENST00000235349.5	-	4	1181	c.1111G>A	c.(1111-1113)Gcc>Acc	p.A371T		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	371								p.A371T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAAGATGGCGTTGACTTGG	0.517000													72	381					0	0	0.048971	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	A	rs121912660		TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr17:7577099C>A	ENST00000420246.2	-	8	971	c.839G>T	c.(838-840)aGa>aTa	p.R280I	TP53_ENST00000269305.4_Missense_Mutation_p.R280I|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R280I|TP53_ENST00000445888.2_Missense_Mutation_p.R280I|TP53_ENST00000455263.2_Missense_Mutation_p.R280I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GCGCCGGTCTCTCCCAGGACA	0.542000		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)			24	38					1.10513e-12	1.43307e-12	0.069288	1	0
SPAG17	200162	broad.mit.edu	37	1	118527328	118527328	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:118527328A>C	ENST00000336338.5	-	41	5812	c.5747T>G	c.(5746-5748)tTg>tGg	p.L1916W	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1916						cilium|flagellar axoneme|microtubule		p.L1916W(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAACTGGTTCAATTCAGATTT	0.284000													18	89					0	0	0.055883	0	0
ALAD	210	broad.mit.edu	37	9	116152888	116152888	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr9:116152888C>A	ENST00000409155.3	-	6	662	c.466G>T	c.(466-468)Gcg>Tcg	p.A156S	ALAD_ENST00000277315.5_Missense_Mutation_p.A139S	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	156					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding	p.A185S(1)|p.A156S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	TTGGCATACGCCAATGCCACC	0.622000													6	24					0.00198382	0.00209403	0.029380	1	0
ALKBH5	54890	broad.mit.edu	37	17	18087755	18087755	+	Silent	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr17:18087755C>T	ENST00000399138.4	+	1	203	c.198C>T	c.(196-198)ccC>ccT	p.P66P	ALKBH5_ENST00000541285.1_Intron|RP11-258F1.1_ENST00000583062.1_RNA|RP11-258F1.1_ENST00000577847.1_RNA	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	66						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.P66P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					ACTCGGACCCCGAGCGCAGCG	0.687000													3	22					0	0	0.004672	0	0
THNSL2	55258	broad.mit.edu	37	2	88484982	88484982	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:88484982G>T	ENST00000324166.5	+	7	2904	c.1213G>T	c.(1213-1215)Gac>Tac	p.D405Y	THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.D405Y|THNSL2_ENST00000377254.3_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	405					threonine biosynthetic process		threonine synthase activity	p.D405Y(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CCAGCAGATAGACAGGCAGCA	0.592000													5	13					8.12818e-05	8.9023e-05	0.029380	1	0
FMR1NB	158521	broad.mit.edu	37	X	147106432	147106432	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chrX:147106432G>T	ENST00000370467.3	+	5	754	c.680G>T	c.(679-681)gGt>gTt	p.G227V		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	227						integral to membrane		p.G227V(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GTTGTAACGGGTTTGAAGAAA	0.408000													36	12					1.30998e-17	1.81734e-17	0.080422	1	0
TTN	7273	broad.mit.edu	37	2	179616220	179616220	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:179616220C>A	ENST00000360870.5	-	46	11129	c.10907G>T	c.(10906-10908)aGg>aTg	p.R3636M	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9485	Ig-like 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCAGTAAACCTCAGGTCAAC	0.368000													24	97					1.96895e-08	2.30062e-08	0.076483	1	0
LAMP3	27074	broad.mit.edu	37	3	182870212	182870212	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:182870212T>A	ENST00000265598.3	-	3	1094	c.839A>T	c.(838-840)aAc>aTc	p.N280I	LAMP3_ENST00000466939.1_Missense_Mutation_p.N256I	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	280					cell proliferation	integral to membrane|lysosomal membrane		p.N280I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CAACAGAAGGTTGGATTTTCG	0.468000													157	247					0	0	0.048971	0	0
TMEM201	199953	broad.mit.edu	37	1	9658630	9658630	+	Silent	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:9658630C>T	ENST00000340305.5	+	4	562	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	TMEM201_ENST00000377376.4_Silent_p.L185L|TMEM201_ENST00000340381.6_Silent_p.L185L	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	185						integral to membrane|nuclear inner membrane		p.L185L(2)		lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GCTGCGCGCCCTGTTGCTCAG	0.642000													24	49					0	0	0.099896	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70951419	70951419	+	Silent	SNP	A	A	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr10:70951419A>T	ENST00000359655.4	+	6	810	c.750A>T	c.(748-750)ccA>ccT	p.P250P	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	250	Helicase ATP-binding.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	p.P250P(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGGGTGTGCCATGTGACTTGG	0.398000													11	41					0	0	0.080935	0	0
DNM1P46	196968	broad.mit.edu	37	15	100340293	100340293	+	RNA	SNP	C	C	G	rs142617387	by1000genomes	TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr15:100340293C>G	ENST00000341853.1	-	0	633					NR_003260.1																						GCCGACTCCTCCACGAGTGTC	0.632000													4	42					0	0	0.014758	0	0
CHD7	55636	broad.mit.edu	37	8	61769149	61769149	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr8:61769149G>T	ENST00000423902.2	+	34	7789	c.7310G>T	c.(7309-7311)gGa>gTa	p.G2437V	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2437					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.G2437L(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCAGAAAATGGACAAGAAAAA	0.423000													47	36					1.83081e-24	2.78768e-24	0.048971	1	0
MS4A12	54860	broad.mit.edu	37	11	60268654	60268654	+	Splice_Site	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:60268654C>A	ENST00000016913.4	+	3	470	c.414_splice	c.e3+1	p.S138_splice	MS4A12_ENST00000537076.1_Intron	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	138						integral to membrane	receptor activity	p.S138Y(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						GGTGGCCTTTCTGTGAGTAGA	0.378000													34	123					4.65686e-17	6.37947e-17	0.064281	1	0
OR1L3	26735	broad.mit.edu	37	9	125437724	125437724	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr9:125437724G>A	ENST00000304820.2	+	1	410	c.316G>A	c.(316-318)Gtt>Att	p.V106I		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	106			V -> A (in dbSNP:rs16912096).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V106I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TTTCTTCCTGGTTTTTGGAAA	0.428000													45	166					0	0	0.042209	0	0
PEX14	5195	broad.mit.edu	37	1	10690005	10690005	+	Silent	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:10690005G>A	ENST00000356607.4	+	9	1175	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R	PEX14_ENST00000538836.1_Silent_p.R301R	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	365					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	p.R365R(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		AGAAGCTGCGGCGGCCCGAGG	0.677000													21	38					0	0	0.062417	0	0
RPS29	6235	broad.mit.edu	37	14	50053060	50053060	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr14:50053060C>T	ENST00000396020.3	-	1	34	c.5G>A	c.(4-6)gGt>gAt	p.G2D	RPS29_ENST00000557111.1_Intron|RPS29_ENST00000245458.6_Missense_Mutation_p.G2D	NM_001030001.1	NP_001025172.1	P62273	RS29_HUMAN	ribosomal protein S29	2					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome|zinc ion binding	p.G2D(2)		endometrium(1)|kidney(1)|lung(1)|ovary(1)	4	all_epithelial(31;0.00214)|Breast(41;0.0124)					CTGCTGGTGACCCATCTTGCT	0.522000													61	65					0	0	0.048971	0	0
LMNB2	84823	broad.mit.edu	37	19	2438179	2438179	+	Silent	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:2438179C>T	ENST00000325327.3	-	4	728	c.666G>A	c.(664-666)cgG>cgA	p.R222R	LMNB2_ENST00000582871.1_Silent_p.R202R			Q03252	LMNB2_HUMAN	lamin B2	202	Linker 2.|Rod.					nuclear inner membrane	structural molecule activity	p.R202R(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACACTCTTCCGGAAGTCCA	0.617000													26	118					0	0	0.030593	0	0
CYP4F8	11283	broad.mit.edu	37	19	15726466	15726466	+	RNA	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:15726466G>T	ENST00000441682.2	+	0	103							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	p.P13P(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GCCTCAGGCCGGTGGCAGCAT	0.682000													5	3					1.50039e-11	1.86801e-11	0.062417	1	0
OPCML	4978	broad.mit.edu	37	11	132307139	132307139	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:132307139C>G	ENST00000331898.7	-	4	1219	c.641G>C	c.(640-642)cGg>cCg	p.R214P	OPCML_ENST00000541867.1_Missense_Mutation_p.R214P|OPCML_ENST00000374778.4_Missense_Mutation_p.R173P|OPCML_ENST00000524381.1_Missense_Mutation_p.R207P|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	214	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.R207P(1)|p.R214P(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TTTTACTTTCCGCACATCGGG	0.542000													55	90					0	0	0.048971	0	0
SPIDR	23514	broad.mit.edu	37	8	48309166	48309166	+	Silent	SNP	A	A	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr8:48309166A>T	ENST00000297423.4	+	6	1140	c.756A>T	c.(754-756)tcA>tcT	p.S252S	SPIDR_ENST00000518074.1_Silent_p.S192S|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Silent_p.S182S	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair									p.S252S(1)									CAGAAAATTCAGCAAAGAAGA	0.313000													59	262					0	0	0.048971	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90122030	90122030	+	RNA	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:90122030G>A	ENST00000483379.1	+	0	429																											GTCCCATCAAGGTTCAGCGGC	0.463000													5	201					0	0	0.047766	0	0
PFDN5	5204	broad.mit.edu	37	12	53691907	53691907	+	Missense_Mutation	SNP	C	C	T	rs146649111		TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:53691907C>T	ENST00000551018.1	+	5	638	c.361C>T	c.(361-363)Ctt>Ttt	p.L121F	PFDN5_ENST00000351500.3_Missense_Mutation_p.L76F|PFDN5_ENST00000550846.1_Missense_Mutation_p.L51F|PFDN5_ENST00000334478.4_Missense_Mutation_p.L121F	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	121					'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding	p.L121F(1)		kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						CCAACCAGCTCTTCAGGAGAA	0.458000													139	222					0	0	0.048971	0	0
CDKL5	6792	broad.mit.edu	37	X	18668587	18668587	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chrX:18668587G>A	ENST00000379989.3	+	21	3140	c.2855G>A	c.(2854-2856)cGa>cAa	p.R952Q	RS1_ENST00000476595.1_5'UTR|RS1_ENST00000379984.3_Intron|CDKL5_ENST00000379996.3_Missense_Mutation_p.R952Q	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	952					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	p.R952Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GTCCCAAACCGAGCCCTTCAT	0.567000													12	119					0	0	0.093190	0	0
OR4C12	283093	broad.mit.edu	37	11	50003265	50003265	+	Missense_Mutation	SNP	C	C	T	rs141386333		TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:50003265C>T	ENST00000335238.4	-	1	806	c.773G>A	c.(772-774)cGc>cAc	p.R258H		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R258L(1)|p.R258P(1)|p.R258H(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GGTCACTGAGCGCAGATACAC	0.433000													14	76					0	0	0.020292	0	0
EDEM2	55741	broad.mit.edu	37	20	33703271	33703271	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr20:33703271C>A	ENST00000374492.3	-	11	1807	c.1702G>T	c.(1702-1704)Gca>Tca	p.A568S	EDEM2_ENST00000541621.1_Missense_Mutation_p.A347S|EDEM2_ENST00000542871.1_Missense_Mutation_p.A292S|EDEM2_ENST00000374491.2_Missense_Mutation_p.A531S	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	568					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.A568S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCCAGTAATGCCAACTTGGAG	0.433000													167	258					7.08505e-72	1.26374e-71	0.048971	1	0
POLB	5423	broad.mit.edu	37	8	42213036	42213036	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr8:42213036C>T	ENST00000265421.4	+	7	543	c.373C>T	c.(373-375)Ctc>Ttc	p.L125F	POLB_ENST00000538005.1_5'UTR	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	125					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	p.L125F(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	CTATACAGATCTCAGAAAAAA	0.318000								DNA polymerases (catalytic subunits)					39	52					0	0	0.111260	0	0
OR7A10	390892	broad.mit.edu	37	19	14952563	14952563	+	Silent	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:14952563G>A	ENST00000248058.1	-	1	126	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L43L(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					ATGATGAGCAGGTTCCCGAGC	0.502000													34	22					0	0	0.064281	0	0
OR51E2	81285	broad.mit.edu	37	11	4703243	4703243	+	Silent	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:4703243C>A	ENST00000396950.3	-	2	938	c.699G>T	c.(697-699)cgG>cgT	p.R233R		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R233R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGCCTTGGCCCGCTCTGACT	0.512000													21	75					2.89027e-11	3.56793e-11	0.069288	1	0
CHD7	55636	broad.mit.edu	37	8	61769148	61769148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr8:61769148G>T	ENST00000423902.2	+	34	7788	c.7309G>T	c.(7309-7311)Gga>Tga	p.G2437*	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2437					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.G2437L(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTCAGAAAATGGACAAGAAAA	0.423000													47	37					2.29192e-23	3.41832e-23	0.048971	1	0
OR2J2	26707	broad.mit.edu	37	6	29142178	29142178	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:29142178G>T	ENST00000377167.2	+	1	868	c.766G>T	c.(766-768)Gtc>Ttc	p.V256F		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V256F(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TTTCATTCCAGTCATGTGCAT	0.458000													58	134					3.37043e-27	5.24156e-27	0.048971	1	0
DHX8	1659	broad.mit.edu	37	17	41570854	41570854	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr17:41570854G>A	ENST00000262415.3	+	7	977	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	DHX8_ENST00000540306.1_Missense_Mutation_p.R302Q	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	302	S1 motif.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.R302Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GAGCTCCGGCGGGAGGGTCGT	0.547000													5	100					0	0	0.021553	0	0
HDAC7	51564	broad.mit.edu	37	12	48188624	48188624	+	Silent	SNP	C	C	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:48188624C>G	ENST00000080059.7	-	12	1376	c.1377G>C	c.(1375-1377)gtG>gtC	p.V459V	HDAC7_ENST00000552960.1_Silent_p.V442V|HDAC7_ENST00000427332.2_Silent_p.V420V|HDAC7_ENST00000380610.4_Silent_p.V476V|HDAC7_ENST00000354334.3_Silent_p.V422V	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	420	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	p.V420V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GGCCATCGTCCACCACCTGGC	0.687000													38	148					0	0	0.069456	0	0
A2ML1	144568	broad.mit.edu	37	12	8994049	8994049	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:8994049C>A	ENST00000299698.7	+	11	1345	c.1165C>A	c.(1165-1167)Cag>Aag	p.Q389K		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	233						extracellular space	endopeptidase inhibitor activity	p.Q389K(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AACCTTCAACCAGACCCTGGT	0.478000													74	131					1.12115e-39	1.87718e-39	0.048971	1	0
ALKBH1	8846	broad.mit.edu	37	14	78174335	78174335	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr14:78174335C>A	ENST00000216489.3	-	1	28	c.13G>T	c.(13-15)Gca>Tca	p.A5S		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	5					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.A5S(1)		endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ACGGCCGCTGCCATCTTCCCC	0.642000													30	16					6.18754e-15	8.24377e-15	0.048971	1	0
RBP3	5949	broad.mit.edu	37	10	48389941	48389941	+	Silent	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr10:48389941G>A	ENST00000224600.4	-	1	1050	c.937C>T	c.(937-939)Ctg>Ttg	p.L313L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	313	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.L313L(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCTTTCTCCAGGGCCTGCTCG	0.692000													16	43					0	0	0.024245	0	0
ALDH1A3	220	broad.mit.edu	37	15	101447433	101447433	+	Silent	SNP	T	T	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr15:101447433T>C	ENST00000329841.5	+	11	1873	c.1341T>C	c.(1339-1341)aaT>aaC	p.N447N	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Silent_p.N340N	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	447					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	p.N447N(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	TCACAAAAAATCTCGACAAAG	0.458000													52	107					0	0	0.048971	0	0
MUC3A	4584	broad.mit.edu	37	7	100549831	100549831	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:100549831A>G	ENST00000379458.4	+	2	412	c.412A>G	c.(412-414)Atc>Gtc	p.138_138insV	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated									p.I138V(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TATAATCACCATCTCCCACCC	0.552000													22	179					0	0	0.037714	0	0
CDKN1B	1027	broad.mit.edu	37	12	12870888	12870888	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:12870888G>C	ENST00000228872.4	+	1	831	c.115G>C	c.(115-117)Gaa>Caa	p.E39Q	CDKN1B_ENST00000396340.1_Missense_Mutation_p.E39Q|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	39					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	p.E39Q(1)		breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GGTGGACCACGAAGAGTTAAC	0.602000													84	137					0	0	0.048971	0	0
GPR142	350383	broad.mit.edu	37	17	72368080	72368080	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr17:72368080G>T	ENST00000335666.4	+	4	778	c.730G>T	c.(730-732)Gcc>Tcc	p.A244S		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	244						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.A244S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						TGCCAACCACGCCTCAGTCTG	0.697000													8	48					0.00621372	0.00649616	0.058154	1	0
TRPV2	51393	broad.mit.edu	37	17	16323552	16323552	+	Silent	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr17:16323552G>A	ENST00000338560.7	+	3	723	c.324G>A	c.(322-324)tcG>tcA	p.S108S	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	108	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	p.S108S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCACCGACTCGGAATACACAG	0.582000													4	123					0	0	0.014758	0	0
TRHDE	29953	broad.mit.edu	37	12	73056896	73056896	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:73056896C>G	ENST00000261180.4	+	19	3092	c.2996C>G	c.(2995-2997)aCt>aGt	p.T999S		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	999					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.T999S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCTGTGGAAACTGTCGAAGCC	0.388000													4	31					0	0	0.014758	0	0
PCDH9	5101	broad.mit.edu	37	13	67802047	67802047	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr13:67802047C>A	ENST00000544246.1	-	2	1217	c.526G>T	c.(526-528)Gta>Tta	p.V176L	PCDH9_ENST00000377861.3_Missense_Mutation_p.V176L|PCDH9_ENST00000377865.2_Missense_Mutation_p.V176L|PCDH9_ENST00000456367.1_Missense_Mutation_p.V176L|PCDH9_ENST00000328454.5_Missense_Mutation_p.V176L	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	176	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V176L(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TAATGCTGTACACCATTGAAG	0.428000													84	121					7.83748e-43	1.32751e-42	0.048971	1	0
GBP5	115362	broad.mit.edu	37	1	89735060	89735060	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:89735060C>A	ENST00000343435.5	-	3	715	c.179G>T	c.(178-180)gGg>gTg	p.G60V	GBP5_ENST00000370459.3_Missense_Mutation_p.G60V|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	60						plasma membrane	GTP binding|GTPase activity	p.G60V(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CTTGTTCTTCCCAGCCAGCTT	0.512000													62	80					1.48873e-21	2.19048e-21	0.048971	1	0
KIAA0754	643314	broad.mit.edu	37	1	39878353	39878353	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:39878353C>G	ENST00000530275.1	+	1	2203	c.2008C>G	c.(2008-2010)Cta>Gta	p.L670V	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	670										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATTCATTCCTAAATATTTT	0.453000													50	38					0	0	0.048971	0	0
SPAG16	79582	broad.mit.edu	37	2	214215278	214215278	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:214215278A>T	ENST00000413312.1	+	6	824	c.578A>T	c.(577-579)gAa>gTa	p.E193V	SPAG16_ENST00000331683.5_Missense_Mutation_p.E224V|SPAG16_ENST00000374309.3_Missense_Mutation_p.E130V|SPAG16_ENST00000272898.7_Missense_Mutation_p.E224V|SPAG16_ENST00000447990.1_Missense_Mutation_p.E224V|SPAG16_ENST00000414961.2_Intron			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	224					cilium assembly	cilium axoneme|flagellar axoneme		p.E224V(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GCATCTTATGAACCGACTATA	0.348000													16	20					0	0	0.028581	0	0
ANKRD42	338699	broad.mit.edu	37	11	82938904	82938904	+	Silent	SNP	T	T	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:82938904T>C	ENST00000260047.6	+	7	1695	c.900T>C	c.(898-900)ccT>ccC	p.P300P	ANKRD42_ENST00000531895.1_Silent_p.P301P|ANKRD42_ENST00000533342.1_Silent_p.P301P|ANKRD42_ENST00000393392.2_Silent_p.P273P			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	273								p.P273P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GATCAACTCCTATGCATAAAG	0.373000													45	74					0	0	0.048971	0	0
USP42	84132	broad.mit.edu	37	7	6182611	6182611	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:6182611C>G	ENST00000306177.5	+	8	1002	c.844C>G	c.(844-846)Cag>Gag	p.Q282E		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	282					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.Q282E(1)|p.Q410E(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GAAGCCGGAACAGCTTGATGG	0.537000													21	60					0	0	0.099896	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34043079	34043079	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr5:34043079C>A	ENST00000382065.3	-	1	858	c.152G>T	c.(151-153)gGc>gTc	p.G51V	C1QTNF3_ENST00000231338.7_Intron	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	0	Collagen-like.					collagen		p.G51V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CCTCCTGGAGCCGCTACGGCC	0.488000													187	104					1.74111e-110	3.1183e-110	0.048971	1	0
IGLL1	3543	broad.mit.edu	37	22	23917154	23917154	+	Splice_Site	SNP	T	T	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr22:23917154T>C	ENST00000330377.2	-	2	439	c.322_splice	c.e2+1	p.S108_splice	IGLL1_ENST00000249053.3_Intron	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	108	J region (By similarity to lambda light- chain).				immune response	extracellular region|membrane		p.S108G(1)		kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						AGCCACTTACTTAAAACGGTG	0.577000													4	87					0	0	0.014758	0	0
CORO7	79585	broad.mit.edu	37	16	4408437	4408437	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr16:4408437C>A	ENST00000251166.4	-	24	2533	c.2388G>T	c.(2386-2388)gaG>gaT	p.E796D	CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.E796D|CORO7_ENST00000539968.1_Missense_Mutation_p.E576D|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000537233.2_Missense_Mutation_p.E778D|CORO7_ENST00000574025.1_Missense_Mutation_p.E711D	NM_024535.4	NP_078811.3			coronin 7									p.E796D(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						ACCGCATCAGCTCCACTTCCC	0.697000													25	16					2.70662e-09	3.2054e-09	0.041601	1	0
NPTX2	4885	broad.mit.edu	37	7	98254413	98254413	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:98254413C>A	ENST00000265634.3	+	3	988	c.823C>A	c.(823-825)Cag>Aag	p.Q275K		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	275	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding	p.Q275K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GGTGCCAGGGCAGGCCAACGA	0.642000													34	180					1.04352e-10	1.27379e-10	0.064281	1	0
FAM73A	374986	broad.mit.edu	37	1	78340618	78340618	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:78340618C>A	ENST00000370791.3	+	16	1800	c.1768C>A	c.(1768-1770)Cag>Aag	p.Q590K	FAM73A_ENST00000443751.2_Missense_Mutation_p.Q553K	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	590						integral to membrane		p.Q590K(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		AGACCTCATGCAGTTACTCAT	0.408000													43	50					4.10826e-27	6.36635e-27	0.048971	1	0
KLRC2	3822	broad.mit.edu	37	12	10587093	10587093	+	Missense_Mutation	SNP	G	G	A	rs143264024	byFrequency	TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:10587093G>A	ENST00000381902.2	-	3	329	c.323C>T	c.(322-324)aCg>aTg	p.T108M	KLRC2_ENST00000381901.1_Intron|NKG2-E_ENST00000539033.1_Missense_Mutation_p.T108M|KLRC2_ENST00000536833.2_Missense_Mutation_p.T49M	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	108					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	p.T108M(1)		kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ACCTTTCTGCGTTCTTGTATT	0.284000													8	55					0	0	0.058154	0	0
LY75	4065	broad.mit.edu	37	2	160663639	160663639	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:160663639C>A	ENST00000263636.4	-	34	4862	c.4835G>T	c.(4834-4836)aGt>aTt	p.S1612I	LY75-CD302_ENST00000505052.1_Intron|LY75_ENST00000554112.1_Missense_Mutation_p.S1612I|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.S1612I|LY75_ENST00000553424.1_Intron	NM_002349.3	NP_002340.2			lymphocyte antigen 75									p.S1612I(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATCTAACCAACTCCAAGACTG	0.368000													22	28					1.55795e-14	2.0631e-14	0.062417	1	0
CACNA1A	773	broad.mit.edu	37	19	13410132	13410132	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:13410132G>T	ENST00000360228.5	-	19	2314	c.2315C>A	c.(2314-2316)tCc>tAc	p.S772Y	CACNA1A_ENST00000573710.2_Missense_Mutation_p.S773Y	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	773					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.S773Y(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CTCCCACACGGACTTGGCTGG	0.562000													110	71					2.19568e-55	3.83804e-55	0.048971	1	0
OR2Z1	284383	broad.mit.edu	37	19	8841574	8841574	+	Silent	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:8841574C>T	ENST00000324060.2	+	1	259	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L62L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CATGTACTTCCTGCTCAGCCA	0.557000													197	48					0	0	0.048971	0	0
CMTR2	55783	broad.mit.edu	37	16	71319391	71319391	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr16:71319391C>A	ENST00000338099.5	-	3	769	c.433G>T	c.(433-435)Gaa>Taa	p.E145*	FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.E145*			Q8IYT2	FTSJ1_HUMAN		145						integral to membrane	methyltransferase activity|nucleic acid binding	p.E145*(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTGGAGCTTCACAAAGGTGT	0.413000													70	42					2.23399e-28	3.49912e-28	0.048971	1	0
NPAT	4863	broad.mit.edu	37	11	108043482	108043482	+	Silent	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:108043482G>A	ENST00000278612.8	-	13	2334	c.2229C>T	c.(2227-2229)atC>atT	p.I743I		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	743					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.I743I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CATCACTAATGATAACTTTGA	0.383000													51	92					0	0	0.048971	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090507	238090507	+	RNA	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:238090507C>A	ENST00000450451.1	+	0	2013					NR_027247.2																						TGTTTGAGACCTTCAACTCCC	0.602000													14	40					4.7546e-09	5.58538e-09	0.028581	1	0
ZNF614	80110	broad.mit.edu	37	19	52519539	52519539	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:52519539T>C	ENST00000270649.6	-	5	1856	c.1312A>G	c.(1312-1314)Aca>Gca	p.T438A	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T438A(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTGCGCTTTGTGGTGAAGCCT	0.408000													46	96					0	0	0.042209	0	0
SLITRK2	84631	broad.mit.edu	37	X	144906366	144906366	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chrX:144906366G>T	ENST00000370490.1	+	1	6678	c.2423G>T	c.(2422-2424)aGg>aTg	p.R808M	SLITRK2_ENST00000428560.2_Missense_Mutation_p.R808M|SLITRK2_ENST00000413937.2_Missense_Mutation_p.R808M|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R808M|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R808M			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	808						integral to membrane		p.R808M(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GGAACTCCCAGGAAATGCTTT	0.443000													75	31					2.72187e-29	4.29406e-29	0.048971	1	0
SUGT1	10910	broad.mit.edu	37	13	53241004	53241004	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr13:53241004C>T	ENST00000535397.1	+	11	782	c.409C>T	c.(409-411)Ctt>Ttt	p.L137F	SUGT1_ENST00000310528.7_Missense_Mutation_p.L193F|SUGT1_ENST00000343788.6_Missense_Mutation_p.L225F			Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	225					mitosis	kinetochore|ubiquitin ligase complex	binding	p.L193F(1)|p.L225F(1)		kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		ACTGGAACTTCTTCATCCTAT	0.299000													19	32					0	0	0.099896	0	0
CHRND	1144	broad.mit.edu	37	2	233392136	233392136	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:233392136C>A	ENST00000258385.3	+	3	256	c.224C>A	c.(223-225)aCc>aAc	p.T75N	CHRND_ENST00000457943.2_5'UTR|CHRND_ENST00000536614.1_Missense_Mutation_p.T75N|CHRND_ENST00000543200.1_Intron	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	75					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.T75N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		ACCCTCACTACCAATGTGTGG	0.537000													4	144					0.00909568	0.00944136	0.009096	1	0
ASCL3	56676	broad.mit.edu	37	11	8959544	8959544	+	Silent	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:8959544C>A	ENST00000325884.1	-	2	224	c.165G>T	c.(163-165)cgG>cgT	p.R55R	ASCL3_ENST00000531618.1_Silent_p.R55R	NM_020646.1	NP_065697.1	Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	54					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding	p.R55R(1)		breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		GAAAAGGCAGCCGTGGCAGCT	0.557000													4	117					0.00909568	0.00944136	0.009096	1	0
DNAH11	8701	broad.mit.edu	37	7	21789974	21789974	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:21789974C>A	ENST00000328843.6	+	55	8984	c.8953C>A	c.(8953-8955)Cag>Aag	p.Q2985K	DNAH11_ENST00000409508.3_Missense_Mutation_p.Q2978K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2985	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Q2985K(1)		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						GGTGCGACTACAGCTCAAAGT	0.368000									Kartagener syndrome				7	14					0.00307968	0.00324294	0.038147	1	0
USP8	9101	broad.mit.edu	37	15	50769167	50769167	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr15:50769167A>G	ENST00000433963.1	+	10	1471	c.971A>G	c.(970-972)cAg>cGg	p.Q324R	USP8_ENST00000307179.4_Missense_Mutation_p.Q324R|USP8_ENST00000396444.3_Missense_Mutation_p.Q324R|USP8_ENST00000425032.3_Missense_Mutation_p.Q247R	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	324					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Q324R(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CCACGACGCCAGAATGAAGAG	0.393000													38	91					0	0	0.086207	0	0
PGM5	5239	broad.mit.edu	37	9	71002378	71002378	+	Splice_Site	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr9:71002378G>A	ENST00000396396.1	+	4	800		c.e4-1		PGM5_ENST00000396392.1_Splice_Site|PGM5_ENST00000604870.2_Splice_Site	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5						cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	p.?(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TCTATCTTTAGTGGAGATAGT	0.408000													27	109					0	0	0.041601	0	0
KDM4E	390245	broad.mit.edu	37	11	94759362	94759362	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:94759362C>A	ENST00000450979.2	+	1	941	c.641C>A	c.(640-642)cCa>cAa	p.P214Q		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	214	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.P214Q(2)		breast(1)|endometrium(7)|kidney(1)|lung(3)	12						GTGGTGCCCCCAGAACATGGT	0.577000													51	68					1.21353e-23	1.81615e-23	0.048971	1	0
SERPINB7	8710	broad.mit.edu	37	18	61459667	61459667	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr18:61459667C>A	ENST00000398019.2	+	3	534	c.209C>A	c.(208-210)tCt>tAt	p.S70Y	SERPINB7_ENST00000546027.1_Missense_Mutation_p.S70Y|SERPINB7_ENST00000540675.1_Intron|SERPINB7_ENST00000336429.2_Missense_Mutation_p.S70Y	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	70					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.S70Y(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GGAAACTCTTCTAATAGTCAG	0.428000													18	42					2.4624e-09	2.9241e-09	0.049695	1	0
OR8U1	219417	broad.mit.edu	37	11	56143268	56143268	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:56143268A>C	ENST00000302270.1	+	1	169	c.169A>C	c.(169-171)Aca>Cca	p.T57P		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1									p.T57P(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					AAGTCTCAACACACCAATGTA	0.403000													55	122					0	0	0.048971	0	0
SDK1	221935	broad.mit.edu	37	7	4281522	4281522	+	Silent	SNP	C	C	T	rs141297041		TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:4281522C>T	ENST00000404826.2	+	43	6367	c.6228C>T	c.(6226-6228)acC>acT	p.T2076T	SDK1_ENST00000389531.3_Silent_p.T2056T|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2076					cell adhesion	integral to membrane		p.T2076T(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCAAGAGCACCTTCTCCAAGA	0.627000													19	76					0	0	0.069288	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845905	106845905	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chrX:106845905G>C	ENST00000276185.4	+	16	4735	c.4735G>C	c.(4735-4737)Gat>Cat	p.D1579H				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1579						cytoskeleton		p.D1579H(1)|p.D1628H(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GCAGGTGCTGGATGCTGCTAC	0.607000													18	23					0	0	0.049695	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43846183	43846183	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:43846183C>A	ENST00000389420.3	-	14	1972	c.1973G>T	c.(1972-1974)tGt>tTt	p.C658F	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.C658F	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	658	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding	p.C658F(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGCAACCTGACAATAGAGTTT	0.353000													10	21					0.000151284	0.000164866	0.105934	1	0
FAR2	55711	broad.mit.edu	37	12	29423423	29423423	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:29423423T>C	ENST00000182377.4	+	2	309	c.41T>C	c.(40-42)cTc>cCc	p.L14P	FAR2_ENST00000536681.2_Missense_Mutation_p.L14P|FAR2_ENST00000547116.1_Intron	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	14					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	p.L14P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						AAGTCCATTCTCATCACGGGG	0.483000													20	31					0	0	0.034045	0	0
RNH1	6050	broad.mit.edu	37	11	500626	500626	+	Silent	SNP	G	G	T	rs149360262		TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr11:500626G>T	ENST00000534797.1	-	2	1537	c.130C>A	c.(130-132)Cgg>Agg	p.R44R	RNH1_ENST00000356187.5_Silent_p.R44R|RNH1_ENST00000354420.2_Silent_p.R44R|RNH1_ENST00000533410.1_Silent_p.R44R|RNH1_ENST00000397604.3_Silent_p.R44R|RNH1_ENST00000438658.2_Silent_p.R44R|RNH1_ENST00000397614.1_Silent_p.R44R|RNH1_ENST00000397615.2_Silent_p.R44R			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	44					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity	p.R44R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCTTGCACCGTGCTTCCGTG	0.632000													11	66					3.27435e-08	3.80556e-08	0.020292	1	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162734	33162734	+	RNA	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr5:33162734G>A	ENST00000510327.1	-	0	346																											GAAGAAATATGATGAAAGGAA	0.473000													3	8					0	0	0.009096	0	0
HELB	92797	broad.mit.edu	37	12	66698906	66698906	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:66698906A>C	ENST00000247815.4	+	2	642	c.583A>C	c.(583-585)Atg>Ctg	p.M195L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	195					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.M195L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AGACAATGAGATGAGTCTTCC	0.363000													43	52					0	0	0.048971	0	0
GPR112	139378	broad.mit.edu	37	X	135430553	135430553	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chrX:135430553C>A	ENST00000394143.1	+	6	4979	c.4688C>A	c.(4687-4689)tCc>tAc	p.S1563Y	GPR112_ENST00000412101.1_Missense_Mutation_p.S1358Y|GPR112_ENST00000394141.1_Missense_Mutation_p.S1358Y|GPR112_ENST00000370652.1_Missense_Mutation_p.S1563Y|GPR112_ENST00000287534.4_Missense_Mutation_p.S1500Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1563					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1563Y(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTGAGATGTCCTCAATACCA	0.418000													83	32					1.10825e-40	1.8699e-40	0.048971	1	0
SEH1L	81929	broad.mit.edu	37	18	12955608	12955608	+	Splice_Site	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr18:12955608G>T	ENST00000262124.11	+	3	436	c.309_splice	c.e3+1	p.W103_splice	SEH1L_ENST00000399892.2_Splice_Site_p.W103_splice	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	103					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		p.W103C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						AGAGCCACTGGGTGAGACATT	0.458000													19	47					3.99206e-14	5.27048e-14	0.043863	1	0
NEU4	129807	broad.mit.edu	37	2	242757908	242757908	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:242757908C>A	ENST00000391969.2	+	5	1700	c.989C>A	c.(988-990)cCt>cAt	p.P330H	NEU4_ENST00000405370.1_Missense_Mutation_p.P330H|NEU4_ENST00000407683.1_Missense_Mutation_p.P330H|NEU4_ENST00000325935.6_Missense_Mutation_p.P343H|NEU4_ENST00000404257.1_Missense_Mutation_p.P342H	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	330	Pro-rich.					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	p.P342H(1)		breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GGCCAGGTGCCTGGTGGGCCC	0.716000													6	9					0.000442599	0.00047757	0.058154	1	0
OR10J3	441911	broad.mit.edu	37	1	159283979	159283979	+	Silent	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:159283979G>T	ENST00000332217.5	-	1	470	c.471C>A	c.(469-471)gcC>gcA	p.A157A		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A157E(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CTTGGACAATGGCCATGCCAA	0.522000													33	35					1.36615e-20	1.97684e-20	0.054565	1	0
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81443821	81443821	+	RNA	SNP	C	C	G	rs150975459	by1000genomes	TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr10:81443821C>G	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GCAGCACCATCGCCTCAGACC	0.612000													3	28					0	0	0.021553	0	0
GOLIM4	27333	broad.mit.edu	37	3	167761282	167761282	+	Silent	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:167761282G>A	ENST00000470487.1	-	5	1091	c.402C>T	c.(400-402)gaC>gaT	p.D134D	GOLIM4_ENST00000309027.4_Silent_p.D134D	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	134	Endosome targeting.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		p.D134D(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTCTTCCAAGTCACTGTGCT	0.378000													34	168					0	0	0.080422	0	0
NECAB1	64168	broad.mit.edu	37	8	91937876	91937876	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr8:91937876G>A	ENST00000417640.2	+	7	945	c.608G>A	c.(607-609)aGc>aAc	p.S203N		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	203					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	p.S203N(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TTTAATGTCAGCGGTCCAGGT	0.408000													14	13					0	0	0.033300	0	0
LLGL1	3996	broad.mit.edu	37	17	18133340	18133340	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr17:18133340G>T	ENST00000316843.4	+	2	263	c.167G>T	c.(166-168)gGg>gTg	p.G56V		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	56					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	p.G56V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					ACCAGGTCTGGGGCTGTCAAG	0.602000													34	50					7.61001e-30	1.20492e-29	0.080422	1	0
ZNF239	8187	broad.mit.edu	37	10	44052539	44052539	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr10:44052539T>C	ENST00000306006.6	-	2	1641	c.989A>G	c.(988-990)cAg>cGg	p.Q330R	ZNF239_ENST00000535642.1_Missense_Mutation_p.Q330R|ZNF239_ENST00000426961.1_Missense_Mutation_p.Q330R|ZNF239_ENST00000374446.2_Missense_Mutation_p.Q330R	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	p.Q330R(1)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTTTGAGCGCTGACTGAAGCT	0.552000													34	67					0	0	0.059317	0	0
IKZF1	10320	broad.mit.edu	37	7	50444256	50444256	+	Silent	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:50444256G>A	ENST00000331340.3	+	4	341	c.186G>A	c.(184-186)caG>caA	p.Q62Q	IKZF1_ENST00000359197.5_Silent_p.Q62Q|IKZF1_ENST00000349824.4_Silent_p.Q62Q|IKZF1_ENST00000439701.1_Silent_p.Q62Q|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000357364.4_Silent_p.Q62Q|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000440768.2_Silent_p.Q62Q	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	62					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)|p.Q62Q(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TAGAGACTCAGAGTGATGAAG	0.433000			"""D,T"""	BCL6	"""ALL, DLBCL"""								46	226					0	0	0.048971	0	0
DST	667	broad.mit.edu	37	6	56328479	56328479	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:56328479G>C	ENST00000370754.5	-	100	22749	c.22750C>G	c.(22750-22752)Cga>Gga	p.R7584G	DST_ENST00000421834.2_Missense_Mutation_p.R5291G|DST_ENST00000361203.3_Missense_Mutation_p.R7295G|DST_ENST00000370769.4_Missense_Mutation_p.R7406G|DST_ENST00000244364.6_Missense_Mutation_p.R4968G|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.R7080G|DST_ENST00000370788.2_Missense_Mutation_p.R5209G			Q03001	DYST_HUMAN	dystonin	7404					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.R7379G(1)|p.R4968G(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTCGGCCTCGGGGTCGGAAA	0.582000													73	148					0	0	0.048971	0	0
TMEM39B	55116	broad.mit.edu	37	1	32557579	32557579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:32557579C>A	ENST00000427288.1	+	7	1029	c.549C>A	c.(547-549)taC>taA	p.Y183*	TMEM39B_ENST00000456834.2_3'UTR|TMEM39B_ENST00000336294.5_Nonsense_Mutation_p.Y298*|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Nonsense_Mutation_p.Y99*			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	298						integral to membrane		p.Y171*(1)|p.Y298*(1)		endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGAGCGCCTACTATGTGGCCT	0.582000													23	52					1.42536e-11	1.78476e-11	0.099896	1	0
OTOS	150677	broad.mit.edu	37	2	241079494	241079494	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:241079494C>A	ENST00000391989.2	-	4	300	c.70G>T	c.(70-72)Gtg>Ttg	p.V24L	OTOS_ENST00000319460.1_Missense_Mutation_p.V24L			Q8NHW6	OTOSP_HUMAN	otospiralin	24						extracellular region		p.V24L(1)		endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TCCTCCTGCACAGGCTTGGCC	0.567000													31	48					5.71845e-15	7.64209e-15	0.080422	1	0
NOTCH4	4855	broad.mit.edu	37	6	32190540	32190540	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:32190540G>T	ENST00000375023.3	-	3	337	c.199C>A	c.(199-201)Ccc>Acc	p.P67T		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	67	EGF-like 2.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.P67T(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TTCTGGCAGGGGTCAGGAAAC	0.622000													34	65					3.93418e-24	5.9284e-24	0.069456	1	0
CLCN1	1180	broad.mit.edu	37	7	143039535	143039535	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:143039535G>T	ENST00000343257.2	+	16	1954	c.1867G>T	c.(1867-1869)Ggg>Tgg	p.G623W		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	623	CBS 1.				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.G623W(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTACACATATGGGGAGTTGCG	0.478000													13	70					4.3838e-07	5.04137e-07	0.105934	1	0
CACNA1C	775	broad.mit.edu	37	12	2224599	2224599	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:2224599G>T	ENST00000399655.1	+	2	524	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	CACNA1C_ENST00000399644.1_Missense_Mutation_p.G87W|CACNA1C_ENST00000480911.1_Missense_Mutation_p.G87W|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G87W|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G87W|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G87W|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G87W|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G87W|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G87W|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G87W|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G87W|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G87W|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G87W|CACNA1C_ENST00000347598.4_Missense_Mutation_p.G87W|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G87W|CACNA1C_ENST00000344100.3_Missense_Mutation_p.G87W|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G87W|CACNA1C_ENST00000399595.1_Missense_Mutation_p.G87W|CACNA1C_ENST00000335762.5_Missense_Mutation_p.G87W|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G87W|CACNA1C_ENST00000399638.1_Missense_Mutation_p.G87W|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G87W|CACNA1C_ENST00000399629.1_Missense_Mutation_p.G87W	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	87					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.G87W(3)|p.G117W(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCAGCAATATGGGAAACCCAA	0.662000													7	11					0.000151284	0.000164866	0.105934	1	0
SLC25A11	8402	broad.mit.edu	37	17	4842201	4842201	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr17:4842201A>T	ENST00000225665.7	-	3	658	c.318T>A	c.(316-318)ttT>ttA	p.F106L	SLC25A11_ENST00000544061.2_Missense_Mutation_p.F55L	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	106					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	p.F106L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TCAGGCGCTCAAACAGCACGG	0.612000													27	40					0	0	0.034045	0	0
COL22A1	169044	broad.mit.edu	37	8	139691882	139691882	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr8:139691882G>C	ENST00000303045.6	-	40	3496	c.3050C>G	c.(3049-3051)gCa>gGa	p.A1017G	COL22A1_ENST00000341807.4_Intron|COL22A1_ENST00000435777.1_Intron	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1017	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.A1017G(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCTCCCAGTGCACAGTTTTC	0.403000										HNSCC(7;0.00092)			3	195					0	0	0.009096	0	0
OR10J3	441911	broad.mit.edu	37	1	159283980	159283980	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:159283980G>T	ENST00000332217.5	-	1	469	c.470C>A	c.(469-471)gCc>gAc	p.A157D		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A157E(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTGGACAATGGCCATGCCAAG	0.522000													33	34					1.36615e-20	1.97684e-20	0.054565	1	0
MEIS1	4211	broad.mit.edu	37	2	66796217	66796217	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:66796217G>A	ENST00000272369.9	+	12	1607	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	MEIS1_ENST00000488550.1_3'UTR|MEIS1_ENST00000444274.2_Intron|MEIS1_ENST00000407092.2_Intron|MEIS1_ENST00000495021.2_Missense_Mutation_p.E319K|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000398506.2_Intron	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	384	Required for transcriptional activation (By similarity).						sequence-specific DNA binding transcription factor activity	p.E384K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						TATGGGCATGGAGGGGCAGTG	0.443000													38	266					0	0	0.092188	0	0
OR2C3	81472	broad.mit.edu	37	1	247695135	247695135	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:247695135A>T	ENST00000366487.3	-	2	1040	c.679T>A	c.(679-681)Ttg>Atg	p.L227M	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L226M(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CTGATCTTCAACACGGCCCGG	0.537000													20	92					0	0	0.076483	0	0
DNAH8	1769	broad.mit.edu	37	6	38976690	38976690	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:38976690T>C	ENST00000359357.3	+	87	12918	c.12664T>C	c.(12664-12666)Tat>Cat	p.Y4222H	DNAH8_ENST00000441566.1_Missense_Mutation_p.Y4186H					dynein, axonemal, heavy chain 8									p.Y4222H(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGCTATTGTTTATAGATTATC	0.438000													85	200					0	0	0.048971	0	0
ASTN1	460	broad.mit.edu	37	1	176918355	176918355	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:176918355C>A	ENST00000367654.2	-	12	2057	c.2044G>T	c.(2044-2046)Gac>Tac	p.D682Y	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.D674Y|ASTN1_ENST00000367657.3_Missense_Mutation_p.D674Y|ASTN1_ENST00000361833.2_Missense_Mutation_p.D674Y			O14525	ASTN1_HUMAN	astrotactin 1	682	EGF-like 3.				cell migration|neuron cell-cell adhesion	integral to membrane		p.D674Y(1)		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						AAGGTGGGGTCGTCCGGGAAG	0.612000											OREG0014004	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	45					6.53348e-20	9.39187e-20	0.064281	1	0
TMEM120B	144404	broad.mit.edu	37	12	122199586	122199586	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr12:122199586G>C	ENST00000449592.2	+	6	594	c.493G>C	c.(493-495)Gtg>Ctg	p.V165L	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	165						integral to membrane		p.V165L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CTTCCTGCTGGTGTGGTATTA	0.587000													3	159					0	0	0.014758	0	0
PDZD4	57595	broad.mit.edu	37	X	153069678	153069678	+	Silent	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chrX:153069678G>A	ENST00000164640.4	-	8	1631	c.1440C>T	c.(1438-1440)acC>acT	p.T480T	PDZD4_ENST00000393758.2_Silent_p.T405T|PDZD4_ENST00000544474.1_Silent_p.T371T	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	480						cell cortex		p.T480T(1)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAAGCAGCGGGGTGCTGCGGC	0.687000													5	4					0	0	0.091800	0	0
DUSP15	128853	broad.mit.edu	37	20	30436639	30436639	+	Silent	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr20:30436639C>T	ENST00000278979.3	-	9	772	c.696G>A	c.(694-696)caG>caA	p.Q232Q				Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	232						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Q232Q(1)		large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCTTGGGGTGCTGTGTGGGGC	0.602000													7	37					0	0	0.058154	0	0
MGEA5	10724	broad.mit.edu	37	10	103560073	103560073	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr10:103560073T>C	ENST00000361464.3	-	8	1516	c.1121A>G	c.(1120-1122)tAt>tGt	p.Y374C	MGEA5_ENST00000439817.1_Intron|MGEA5_ENST00000370094.3_Missense_Mutation_p.Y374C|MGEA5_ENST00000357797.5_Intron	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	374					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	p.Y374C(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CTGTGGACTATAGAGTACATC	0.378000													58	153					0	0	0.048971	0	0
KDM5C	8242	broad.mit.edu	37	X	53239923	53239923	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chrX:53239923C>A	ENST00000452825.3	-	9	1849	c.1317G>T	c.(1315-1317)atG>atT	p.M439I	KDM5C_ENST00000375379.3_Missense_Mutation_p.M506I|KDM5C_ENST00000375401.3_Missense_Mutation_p.M506I|KDM5C_ENST00000375383.3_Missense_Mutation_p.M465I|KDM5C_ENST00000404049.3_Missense_Mutation_p.M505I	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	506					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.M506I(1)|p.M439I(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CTGAGAAGACCATGCCCACGT	0.517000			"""N, F, S"""		clear cell renal carcinoma								23	8					1.26454e-06	1.43908e-06	0.108266	1	0
CLDN18	51208	broad.mit.edu	37	3	137717810	137717810	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:137717810G>A	ENST00000343735.4	+	1	234	c.100G>A	c.(100-102)Gac>Aac	p.D34N		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	34					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.D34N(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GAGCACCCAAGACTTGTACAA	0.582000													34	178					0	0	0.064281	0	0
SLC17A3	10786	broad.mit.edu	37	6	25861926	25861926	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:25861926C>T	ENST00000397060.4	-	5	660	c.551G>A	c.(550-552)gGg>gAg	p.G184E	SLC17A3_ENST00000360657.3_Missense_Mutation_p.G106E|SLC17A3_ENST00000361703.6_Missense_Mutation_p.G106E	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	106					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	p.G106E(1)|p.G184E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						AAACTGACCCCCAAGTATTGA	0.398000													48	157					0	0	0.048971	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762171	130762171	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr6:130762171G>T	ENST00000392429.1	+	2	2982	c.604G>T	c.(604-606)Gcc>Tcc	p.A202S	TMEM200A_ENST00000545622.1_Missense_Mutation_p.A202S|TMEM200A_ENST00000296978.3_Missense_Mutation_p.A202S	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	202						integral to membrane		p.A202S(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GAGCTCCTGTGCCTCGAGATT	0.463000													14	32					1.02788e-11	1.29448e-11	0.033300	1	0
LCK	3932	broad.mit.edu	37	1	32741968	32741969	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:32741968_32741969insA	ENST00000333070.4	+	8	762_763	c.662_663insA	c.(661-663)acgfs	p.T221fs	LCK_ENST00000336890.5_Frame_Shift_Ins_p.T221fs|LCK_ENST00000373564.3_Intron	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	221	Interaction with PTPRH.|SH2.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	ACACGGTTGAGCCGCCCCTGCC	0.649			T	TRB@	T-ALL								7	106	---	---	---	---					
MIER1	57708	broad.mit.edu	37	1	67442326	67442326	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:67442326delA	ENST00000357692.2	+	13	1299	c.1042delA	c.(1042-1044)aafs	p.K349fs	MIER1_ENST00000355356.3_Frame_Shift_Del_p.K332fs|MIER1_ENST00000401041.1_Frame_Shift_Del_p.K385fs|MIER1_ENST00000371018.3_Frame_Shift_Del_p.K349fs|MIER1_ENST00000371016.1_Frame_Shift_Del_p.K349fs|MIER1_ENST00000401042.3_Frame_Shift_Del_p.K332fs|MIER1_ENST00000371014.1_Frame_Shift_Del_p.K385fs|MIER1_ENST00000355977.6_Frame_Shift_Del_p.K269fs	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	356	SANT.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.S333fs*2(1)|p.S386fs*2(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TTACATGTGGAAAAAATCTGA	0.333													26	140	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152275261	152275286	+	Frame_Shift_Del	DEL	TTATTAATATACGTTGCATAATACCT	TTATTAATATACGTTGCATAATACCT	-	rs150330138	byFrequency	TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr1:152275261_152275286delTTATTAATATACGTTGCATAATACCT	ENST00000368799.1	-	3	12111_12136	c.12076_12101delAGGTATTATGCAACGTATATTAATAA	c.(12076-12102)gfs	p.RYYATYINK4026fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	4026					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Y4031Y(1)|p.T4030T(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTGGGTCCTTATTAATATACGTTGCATAATACCTTGGATGATCT	0.363									Ichthyosis				16	89	---	---	---	---					
LPIN1	23175	broad.mit.edu	37	2	11913804	11913805	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:11913804_11913805insTT	ENST00000256720.2	+	5	748_749	c.655_656insTT	c.(655-657)ggcfs	p.G219fs	LPIN1_ENST00000425416.2_Frame_Shift_Ins_p.G225fs|LPIN1_ENST00000449576.2_Frame_Shift_Ins_p.G268fs|LPIN1_ENST00000396099.1_Frame_Shift_Ins_p.G225fs|LPIN1_ENST00000396098.1_Frame_Shift_Ins_p.G225fs	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	219					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	p.A220_V221delAV(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AAACCTCTCCCTGGCTGTGATT	0.446													42	232	---	---	---	---					
CEP68	23177	broad.mit.edu	37	2	65299464	65299470	+	Frame_Shift_Del	DEL	GAGCGCA	GAGCGCA	-	rs141435576		TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr2:65299464_65299470delGAGCGCA	ENST00000377990.2	+	3	1437_1443	c.1234_1240delGAGCGCA	c.(1234-1242)gafs	p.ERR412fs	RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Frame_Shift_Del_p.ERR412fs|CEP68_ENST00000537589.1_Frame_Shift_Del_p.ERR24fs|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000546106.1_Frame_Shift_Del_p.ERR412fs	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	412					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TGCTCGTTGGGAGCGCAGAGAGCCAGC	0.623													23	236	---	---	---	---					
CCDC71	64925	broad.mit.edu	37	3	49200414	49200414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr3:49200414delG	ENST00000321895.6	-	2	1334	c.1228delC	c.(1228-1230)gafs	p.R410fs		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	410								p.R410R(1)		endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTAGGAGATCGGGGCCCAAGC	0.567													72	101	---	---	---	---					
UBE2D3	7323	broad.mit.edu	37	4	103722680	103722681	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr4:103722680_103722681insA	ENST00000453744.2	-	6	747_748	c.234_235insT	c.(232-237)atacagfs	p.Q79fs	UBE2D3_ENST00000338145.3_Frame_Shift_Ins_p.Q79fs|UBE2D3_ENST00000321805.7_Frame_Shift_Ins_p.Q79fs|UBE2D3_ENST00000394801.4_Frame_Shift_Ins_p.Q79fs|UBE2D3_ENST00000507845.1_Frame_Shift_Ins_p.Q50fs|UBE2D3_ENST00000357194.6_Frame_Shift_Ins_p.Q81fs|UBE2D3_ENST00000349311.8_Frame_Shift_Ins_p.Q79fs|UBE2D3_ENST00000343106.5_Frame_Shift_Ins_p.Q79fs|UBE2D3_ENST00000350435.7_Frame_Shift_Ins_p.Q73fs|UBE2D3_ENST00000502404.1_Frame_Shift_Ins_p.Q50fs|UBE2D3_ENST00000394803.5_Frame_Shift_Ins_p.Q79fs|UBE2D3_ENST00000504211.1_Frame_Shift_Ins_p.Q50fs|UBE2D3_ENST00000505207.1_Frame_Shift_Ins_p.Q50fs|UBE2D3_ENST00000394804.2_Frame_Shift_Ins_p.Q79fs	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	79					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		CCATTACTGTTAATATTTGGAT	0.277													10	28	---	---	---	---					
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TCAATTGTTCGTGTGTGTGTGT	0.356													7	294	---	---	---	---					
PXDNL	137902	broad.mit.edu	37	8	52320781	52320781	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr8:52320781delC	ENST00000356297.4	-	17	3503	c.3403delG	c.(3403-3405)tgfs	p.V1135fs	PXDNL_ENST00000543296.1_Frame_Shift_Del_p.V1135fs	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1135					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCCGAATCCACGGCCGCAGAA	0.542													37	216	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77776623	77776624	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr8:77776623_77776624delTG	ENST00000521891.2	+	11	11121_11122	c.10673_10674delTG	c.(10672-10674)tfs	p.L3558fs	ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.L3513fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.L3532fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.L3509fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3509						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)			ACCTCAAGTTTGTGCAGCACCT	0.490										HNSCC(33;0.089)			21	142	---	---	---	---					
ZNF658	26149	broad.mit.edu	37	9	40773144	40773144	+	Frame_Shift_Del	DEL	C	C	-	rs143209035		TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr9:40773144delC	ENST00000602553.1	-	5	2425	c.2131delG	c.(2131-2133)agfs	p.E711fs	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Frame_Shift_Del_p.E711fs			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TAGGGTTTCTCCCCCGTGTGA	0.403													8	481	---	---	---	---					
CHEK2P2	646096	broad.mit.edu	37	15	20490523	20490523	+	RNA	DEL	G	G	-			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr15:20490523delG	ENST00000555186.1	+	0	503					NR_038836.1																						TTGTCAAGAAGTTGTTGGTAG	0.428													57	298	---	---	---	---					
RP11-160C18.2	0	broad.mit.edu	37	15	79026255	79026255	+	RNA	DEL	C	C	-			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr15:79026255delC	ENST00000568337.1	+	0	532																											ATGCTAAACACATAAAAGGAG	0.517													54	72	---	---	---	---					
LAMA1	284217	broad.mit.edu	37	18	6966226	6966226	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr18:6966226delC	ENST00000389658.3	-	49	7063	c.6970delG	c.(6970-6972)ctfs	p.A2324fs		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2324	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCACGGTAGCCGGAAGTGAC	0.473													10	23	---	---	---	---					
CNN2	1265	broad.mit.edu	37	19	1037646	1037646	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr19:1037646delC	ENST00000263097.4	+	7	1040	c.677delC	c.(676-678)acfs	p.T226fs	CNN2_ENST00000565096.2_Frame_Shift_Del_p.T215fs|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Frame_Shift_Del_p.T187fs|CNN2_ENST00000562958.2_Frame_Shift_Del_p.T247fs	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	226					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCCGGGACCCGGCGGCAC	0.632													10	503	---	---	---	---					
CHEK2	11200	broad.mit.edu	37	22	29090083	29090083	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4420-01A-01D-1265-08	TCGA-05-4420-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0536b000-eaf3-4cb2-b46b-8dd9f23c8199	a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d	g.chr22:29090083delC	ENST00000544772.1	-	14	2171	c.735delG	c.(733-735)ttfs	p.L246fs	CHEK2_ENST00000328354.6_Frame_Shift_Del_p.L467fs|CHEK2_ENST00000402731.1_Frame_Shift_Del_p.L438fs|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Frame_Shift_Del_p.L467fs|CHEK2_ENST00000382580.2_Frame_Shift_Del_p.L510fs|CHEK2_ENST00000403642.1_Frame_Shift_Del_p.L376fs|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Frame_Shift_Del_p.L467fs|CHEK2_ENST00000348295.3_Frame_Shift_Del_p.L438fs|CHEK2_ENST00000382578.1_Frame_Shift_Del_p.L376fs	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	467	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCACTACCAACAACTTCTTGA	0.433			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					7	527	---	---	---	---